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Eyring J, Allen WP, Bayazid LO, Hemeyer BM, Walker S, Orb QT, Grimmer JF, Rampton J, Meier JD. Value of Imaging Measurements in Micrognathia-Related Fetal Airway Obstruction Within a Fetal Center. Laryngoscope 2025; 135:393-401. [PMID: 39239829 PMCID: PMC11635131 DOI: 10.1002/lary.31747] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/13/2024] [Revised: 08/07/2024] [Accepted: 08/21/2024] [Indexed: 09/07/2024]
Abstract
OBJECTIVE Fetal imaging often identifies signs of upper airway obstruction due to micrognathia that may require airway intervention at delivery. This study investigated the role of quantitative fetal imaging measurements in predicting the need for otolaryngology consultation and intervention within a multidisciplinary Fetal Center. METHODS Data were retrospectively collected from expectant mothers attending a multidisciplinary Fetal Center from January 2017 to October 2023. Cases of fetal micrognathia associated with potential upper airway obstruction were analyzed, focusing on prenatal ultrasound and magnetic resonance imaging (MRI) findings, genetic testing results, and interventions at birth. RESULTS Among 25 pregnancies identified, diverse prenatal diagnoses were observed. Post hoc quantitative fetal ultrasound/MRI measurements included inferior facial angle, anteroposterior diameter, biparietal distance, and Jaw Index. Otolaryngology teams were present at delivery for a subset of cases, with various interventions performed, including tracheostomy and intubation. Lower gestational age at birth, rather than more severe quantitative measurements, was associated with the need for intervention. Intubation failure due to airway difficulty was also predicted by lower gestational age. CONCLUSION While certain quantitative fetal imaging measurements are often used for clinical decision-making regarding airway management at birth, they did not clearly predict the need for airway intervention in our sample. Gestational age is an important consideration in decision-making for fetal teams and should be considered in preterm fetuses to plan for airway difficulties. The findings highlight the complexity of fetal micrognathia management and highlight the need for further research to refine predictive models and optimize clinical decision-making in this challenging clinical scenario. LEVEL OF EVIDENCE 3 Laryngoscope, 135:393-401, 2025.
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Affiliation(s)
- J.B. Eyring
- Department of Otolaryngology Head & Neck SurgerySpencer Fox Eccles School of MedicineSalt Lake CityUTUSA
- Department of Otolaryngology—Head and Neck SurgeryUniversity of UtahSalt Lake CityUTUSA
| | - Wesley P. Allen
- Department of Otolaryngology Head & Neck SurgerySpencer Fox Eccles School of MedicineSalt Lake CityUTUSA
- Department of Otolaryngology—Head and Neck SurgeryUniversity of UtahSalt Lake CityUTUSA
| | - Leith O. Bayazid
- Department of Otolaryngology—Head and Neck SurgeryUniversity of UtahSalt Lake CityUTUSA
- Pediatric Otolaryngology DivisionIntermountain Health, Primary Children's HospitalSalt Lake CityUTUSA
| | - Brandon M. Hemeyer
- Department of Otolaryngology Head & Neck SurgerySpencer Fox Eccles School of MedicineSalt Lake CityUTUSA
- Department of Otolaryngology—Head and Neck SurgeryUniversity of UtahSalt Lake CityUTUSA
| | - Stephen Walker
- Department of Clinical SciencesRocky Vista University College of MedicineIvinsUTUSA
| | - Quinn T. Orb
- Department of Otolaryngology—Head and Neck SurgeryUniversity of UtahSalt Lake CityUTUSA
- Pediatric Otolaryngology DivisionIntermountain Health, Primary Children's HospitalSalt Lake CityUTUSA
| | - J. Fredrik Grimmer
- Department of Otolaryngology—Head and Neck SurgeryUniversity of UtahSalt Lake CityUTUSA
- Pediatric Otolaryngology DivisionIntermountain Health, Primary Children's HospitalSalt Lake CityUTUSA
| | - John Rampton
- Pediatric Radiology DivisionIntermountain HealthSalt Lake CityUTUSA
| | - Jeremy D. Meier
- Department of Otolaryngology—Head and Neck SurgeryUniversity of UtahSalt Lake CityUTUSA
- Pediatric Otolaryngology DivisionIntermountain Health, Primary Children's HospitalSalt Lake CityUTUSA
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Zhong C, Xie Z, Dong H, Chen T, Zhang X, Ran S. Prenatal Diagnosis of Pierre Robin Sequence and Its Prognosis: A Retrospective Cohort Study. Am J Perinatol 2024; 41:e1639-e1646. [PMID: 37068514 DOI: 10.1055/s-0043-1768233] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 04/19/2023]
Abstract
OBJECTIVE This study aimed to explore the efficiency of ultrasound (US) in prenatal diagnosis and prognosis of Pierre Robin sequence (PRS) of 18 cases. STUDY DESIGN A total of 79,305 women admitted for prenatal US examinations were recruited from January 2017 to December 2020. Eighteen cases of PRS fetuses were selected form the cohort and 40 cases of isolated micrognathia were recruited randomly as control group. All the clinical and imaging results were retrospectively reviewed. General condition, US measurements, and prognosis of fetuses were compared between groups. RESULTS Cleft palate, glossoptosis, and micrognathia were found in all 18 fetuses with PRS by prenatal US. Compared with the isolated micrognathia group, there were no significant differences in the PRS group in examination of maternal age, gestational weeks at assessment, and gender of fetuses, but significant lower measures in inferior facial angle, jaw index, and frontal nasal-mental angle (each p < 0.05). Twelve fetuses were defined to have other associated malformations. Ear malformations were the most common associated malformations with a prevalence of 44.4% (8/18). All of the18 cases were confirmed with PRS after delivery or autopsy. Two delivered infants were found bucking easily, one baby was spitting up frequently but growth showed normal. CONCLUSION Prenatal detection of PRS with US examination is highly efficient. Even with the triad of malformations, isolated PRS had good outcomes following initial stabilization and management in the neonatal period. Prenatal detection of Pierre Robin syndrome with targeted US examination is efficient in discerning characteristics of this rare syndrome. Even with the triad of malformations, isolated PRS had good outcomes following initial stabilization and management in the neonatal period. KEY POINTS · Prenatal diagnosis of fetal PRS is of great clinical importance.. · Micrognathia has been identified as the primary feature of PRS.. · Posterior displacement of the tongue may cause acute neonatal respiratory distress.. · Even with triad malformation, isolated PRS seemed to have good outcomes..
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Affiliation(s)
- ChunYan Zhong
- Department of Ultrasound, Chongqing Health Center for Women and Children, Chongqing, People's Republic of China
- Department of Ultrasound, Women and Children's Hospital of Chongqing Medical University, Chongqing, People's Republic of China
| | - Zhaopeng Xie
- Department of Ultrasound, Chongqing Traditional Chinese Medicine Hospital, Chongqing, People's Republic of China
| | - Hongmei Dong
- Department of Ultrasound, Chongqing Health Center for Women and Children, Chongqing, People's Republic of China
- Department of Ultrasound, Women and Children's Hospital of Chongqing Medical University, Chongqing, People's Republic of China
| | - Ting Chen
- Department of Ultrasound, Chongqing Health Center for Women and Children, Chongqing, People's Republic of China
- Department of Ultrasound, Women and Children's Hospital of Chongqing Medical University, Chongqing, People's Republic of China
| | - Xiaohang Zhang
- Department of Ultrasound, Chongqing Health Center for Women and Children, Chongqing, People's Republic of China
- Department of Ultrasound, Women and Children's Hospital of Chongqing Medical University, Chongqing, People's Republic of China
| | - SuZhen Ran
- Department of Ultrasound, Chongqing Health Center for Women and Children, Chongqing, People's Republic of China
- Department of Ultrasound, Women and Children's Hospital of Chongqing Medical University, Chongqing, People's Republic of China
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Hunyady AI, Sergeeva V, Kovatsis PG, Evans KN, Staffa SJ, Zurakowski D, Fiadjoe JE, Jimenez N. Difficult intubation in syndromic versus nonsyndromic forms of micrognathia in children. Acta Anaesthesiol Scand 2024; 68:466-475. [PMID: 38164092 DOI: 10.1111/aas.14369] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/19/2023] [Revised: 11/27/2023] [Accepted: 12/03/2023] [Indexed: 01/03/2024]
Abstract
BACKGROUND We investigated how syndromic versus nonsyndromic forms of micrognathia impacted difficult intubation outcomes in children. Primary outcome was the first-attempt success rate of tracheal intubation, secondary outcomes were number of intubation attempts and complications. We hypothesized that syndromic micrognathia would be associated with lower first-attempt success rate. METHODS In micrognathic patients enrolled in the Pediatric Difficult Intubation Registry (08/2012-03/2019) we retrospectively compared demographic and clinical characteristics between children with nonsyndromic and syndromic micrognathia using standardized mean differences (SMD) and assessed the association of the presence of syndrome with the primary and secondary outcomes using propensity score matching analysis with and without matching for airway assessment findings. RESULTS Nonsyndromic patients (628) were less likely to have additional airway abnormalities. Syndromic patients (216) were less likely to have unanticipated difficult intubation (2% vs. 20%, SMD 0.59). First-attempt success rates of intubation were: 38% in the syndromic versus 34% in the nonsyndromic group (odds ratio [OR] 1.18; 95% confidence intervals [95% CI] 0.74, 1.89; p = .478), and 37% versus 37% (OR 0.99; 95% CI 0.66, 1.48; p = .959). Median number of intubation attempts were 2 (interquartile range [IQR]: 1, 3; range: 1, 8) versus 2 (IQR: 1, 3; range 1, 12) (median regression coefficient = 0; 95% CI: -0.7, 0.7; p = .999) and 2 (IQR: 1, 3; range: 1, 12) versus 2 (IQR: 1, 3; range 1, 8) (median regression coefficient = 0; 95% CI: -0.5, 0.5; p = .999). Complication rates were 14% versus 22% (OR 0.6; 95% CI 0.34, 1.04; p = .07) and 16% versus 21% (OR 0.71; 95% CI 0.43, 1.17; p = .185). CONCLUSIONS Presence of syndrome was not associated with lower first-attempt success rate on intubation, number of intubation attempts, or complication rate among micrognathic patients difficult to intubate, despite more associated craniofacial abnormalities. Nonsyndromic patients were more likely to have unanticipated difficult intubations, first attempt with direct laryngoscopy.
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Affiliation(s)
- Agnes I Hunyady
- Department of Anesthesiology and Pain Medicine, Seattle Children's Hospital, University of Washington School of Medicine, Seattle, Washington, USA
| | - Vera Sergeeva
- Department of Anesthesia and Critical Care Kursk Regional Perinatal Center, Kursk State Medical University, Kursk, Russia
| | - Pete G Kovatsis
- Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA
| | - Kelly N Evans
- Department of Pediatrics, Seattle Children's Hospital, University of Washington School of Medicine, Seattle, Washington, USA
| | - Steven J Staffa
- Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA
| | - David Zurakowski
- Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA
| | - John E Fiadjoe
- Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA
| | - Nathalia Jimenez
- Department of Anesthesiology and Pain Medicine, Seattle Children's Hospital, University of Washington School of Medicine, Seattle, Washington, USA
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Wu S, Han J, Duan G, Xue J, Huang R, Wu L, Yan X, Pi H, Yang X. Prenatal Diagnosis of Fetal Micrognathia at 11-20 Weeks of Gestation: A Prospective Observation Study. JOURNAL OF ULTRASOUND IN MEDICINE : OFFICIAL JOURNAL OF THE AMERICAN INSTITUTE OF ULTRASOUND IN MEDICINE 2024; 43:491-499. [PMID: 38164991 DOI: 10.1002/jum.16379] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Subscribe] [Scholar Register] [Received: 07/26/2023] [Revised: 11/10/2023] [Accepted: 11/13/2023] [Indexed: 01/03/2024]
Abstract
OBJECTIVE To prospectively evaluate the prognosis of fetuses diagnosed with micrognathia using prenatal ultrasound screening. METHODS Between January 2019 and December 2022, a normal range of IFA to evaluate the facial profile in fetuses with micrognathia in a Chinese population between 11 and 20 gestational weeks was established, and the pregnancy outcomes of fetal micrognathia were described. The medical records of these pregnancies were collected, including family history, maternal demographics, sonographic findings, genetic testing results, and pregnancy outcomes. RESULTS Ultrasound identified 25 patients with fetal micrognathia, with a mean IFA value of 43.6°. All cases of isolated fetal micrognathia in the initial scans were non-isolated in the following scans. A total of 78.9% (15/19) cases had a genetic cause confirmed, including 12 with chromosomal abnormalities and 3 with monogenic disorders. Monogenic disorders were all known causes of micrognathia, including two cases of campomelic dysplasia affected by SOX9 mutations and one case of mandibulofacial dysostosis with an EFTUD2 mutation. In the end, 19 cases were terminated, 1 live birth was diagnosed as Pierre Robin syndrome, and 5 cases were lost to follow-up. CONCLUSION IFA is a useful indicator and three-dimensional ultrasound is a significant support technique for fetal micrognathia prenatal diagnosis. Repeat ultrasound monitoring and genetic testing are crucial, with CMA recommended and Whole exome sequencing performed when normal arrays are reported. Isolated fetal micrognathia may be an early manifestation of monogenic disorders.
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Affiliation(s)
- Siqi Wu
- Department of Medical Genetics and Prenatal Diagnosis, Longgang District Maternity & Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College), Shenzhen, China
| | - Jin Han
- Department of Prenatal Diagnosis, Guangzhou Women and Children's Medical Center, Guangzhou, China
| | - Guanhua Duan
- Department of Ultrasonics, Longgang District Maternity & Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College), Shenzhen, China
| | - Jiaxin Xue
- Department of Obstetrics, Longgang District Maternity & Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College), Shenzhen, China
| | - Ruchun Huang
- Department of Medical Genetics and Prenatal Diagnosis, Longgang District Maternity & Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College), Shenzhen, China
| | - Liping Wu
- Department of Medical Genetics and Prenatal Diagnosis, Longgang District Maternity & Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College), Shenzhen, China
| | - Xiuyan Yan
- Department of Medical Genetics and Prenatal Diagnosis, Longgang District Maternity & Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College), Shenzhen, China
| | - Huichun Pi
- Department of Medical Genetics and Prenatal Diagnosis, Longgang District Maternity & Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College), Shenzhen, China
| | - Xin Yang
- Department of Medical Genetics and Prenatal Diagnosis, Longgang District Maternity & Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College), Shenzhen, China
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Wiechers C, Poets C, Hoopmann M, Kagan KO. Fetal Profile Markers for the Detection of Robin Sequence in Fetuses with Retrognathia. ULTRASCHALL IN DER MEDIZIN (STUTTGART, GERMANY : 1980) 2023; 44:299-306. [PMID: 34852370 DOI: 10.1055/a-1659-2499] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 06/08/2023]
Abstract
OBJECTIVE To determine whether the prefrontal space ratio (PSFR), inferior facial (IFA) and maxilla-nasion-mandible angle (MNM), and the fetal profile line (FPL) are helpful in identifying fetuses with Robin sequence (RS) in cases with isolated retrognathia, and thus better predict the likelihood of immediate need for postnatal respiratory support. METHODS This was a retrospective matched case-control study of fetuses/infants with isolated retrognathia with or without RS receiving pre- and postnatal treatment at the University Hospital of Tübingen, Germany between 2008 and 2020. The PFSR, IFA, MNM, and FPL were measured in affected and normal fetuses according to standardized protocols. Cases were stratified into isolated retrognathia and RS. RESULTS 21 (n=7 isolated retrognathia, n=14 RS) affected fetuses and 252 normal fetuses were included. Their median gestational age at ultrasound examination was 23.6 and 24.1 weeks, respectively. In fetuses with isolated retrognathia and RS, the PSFR, IFA, and FPL were significantly different from the normal population. At a false-positive rate of 5%, the detection rate was 76.2% for the PFSR, 85.7% for the IFA, and 90.5% for both parameters combined. However, all parameters failed to distinguish between isolated retrognathia and RS. CONCLUSION PSFR and IFA are simple markers for identifying retrognathia prenatally. However, they are not helpful for the detection of RS in fetuses with isolated retrognathia. Therefore, delivery should take place in a center experienced with RS and potentially life-threatening airway obstruction immediately after birth.
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Affiliation(s)
- Cornelia Wiechers
- Department of Neonatology, University Hospital, Eberhard Karls University Tübingen, Tübingen, Germany
- Interdisciplinary Center for Craniofacial Malformations, University Hospital, Eberhard Karls University Tübingen, Tübingen, Germany
| | - Christian Poets
- Department of Neonatology, University Hospital, Eberhard Karls University Tübingen, Tübingen, Germany
- Interdisciplinary Center for Craniofacial Malformations, University Hospital, Eberhard Karls University Tübingen, Tübingen, Germany
| | - Markus Hoopmann
- Department of Obstetrics and Gynaecology, University of Tübingen, Tübingen, Germany
| | - Karl Oliver Kagan
- Department of Obstetrics and Gynaecology, University of Tübingen, Tübingen, Germany
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Minor K, Chueh J. Understanding the distinction between cleft lip and cleft palate: a critical step for successful prenatal detection. Curr Opin Obstet Gynecol 2023; 35:113-126. [PMID: 36912278 DOI: 10.1097/gco.0000000000000852] [Citation(s) in RCA: 4] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 03/14/2023]
Abstract
PURPOSE OF REVIEW Orofacial clefts (OCs) are among the most common congenital anomalies, however, prenatal detection of cleft palate without cleft lip (CP) remains low. CP is associated with a higher risk of associated structural anomalies, recurrence risk and genetic aberrations. There is opportunity to optimize prenatal diagnosis, counseling and diagnostic genetic testing for OCs. RECENT FINDINGS Improving prenatal diagnosis of CP requires understanding that embryologically, the secondary palate develops from the 6th to the 10th week and fuses with the primary palate by the 12th week. Multiple first, second and third trimester 2D ultrasonographic markers for OCs have been described including the maxillary gap, frontal space, maxilla-nasion-mandible angle, retronasal triangle, palatino-maxillary diameter, equal sign, nonvisualization or gap in the soft to hard palate interface and loss of the superimposed line. We discuss the technique, evidence and limitations of each. SUMMARY Prenatal detection of OC can be optimized by employing 2D sonographic markers. Prenatal detection of CP may be improved by recognizing its high association with retrognathia/micrognathia.
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Affiliation(s)
- Kathleen Minor
- Division of Maternal-Fetal Medicine & Obstetrics, Department of Obstetrics and Gynecology, School of Medicine, Stanford University, Stanford, California, USA
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de Vreugt V, Choi JJ, Caprio RM, Jindal S, Koudstaal MJ, Estroff JA, Resnick CM. Can Dynamic Magnetic Resonance Images Improve Prenatal Diagnosis of Robin Sequence. J Oral Maxillofac Surg 2023; 81:165-171. [PMID: 36400156 DOI: 10.1016/j.joms.2022.10.007] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/07/2022] [Revised: 10/17/2022] [Accepted: 10/17/2022] [Indexed: 11/07/2022]
Abstract
BACKGROUND Robin sequence (RS) is a triad of micrognathia, glossoptosis, and airway obstruction. Prenatal diagnosis of RS improves delivery planning and postnatal care, but the process for prenatal diagnosis has not been refined. The purpose of this study was to determine if dynamic cine magnetic resonance imaging (MRI) can improve the reliability of prenatal diagnosis for RS compared to current static imaging techniques. MATERIALS AND METHODS This is a retrospective cross-sectional study including fetuses with prenatal MRIs obtained in a single center from January 2014 to November 2019. Fetuses were included if they: 1) had a prenatal MRI with cine dynamic sequences of adequate quality, 2) were live born, and 3) had postnatal craniofacial evaluation to confirm RS. Patients without postnatal confirmation of their prenatal findings were excluded. The primary predictor variable was imaging type (cine or static MRI). Outcome variables were tongue and airway measurements: 1) tongue height, 2) length and width, 3) tongue shape index, 4) observation of tongue touching the posterior pharyngeal wall, and 5) measurement of oropharyngeal space. All measurements were made independently on the cine images and on static MRI sequences for the same cohort of subjects by a pediatric radiologist. Data were analyzed using paired samples t tests and Fisher exact tests, and significance was set as P < .05. RESULTS A total of 11 patients with RS were included in the study. The smallest airway space consistently demonstrated complete collapse on the cine series compared to partial collapse on static images (0 mm vs 1.7 ± 1.4 mm, P = .002). No other imaging variable was statistically significantly different between techniques. CONCLUSIONS Cine imaging sequences on prenatal MRI were superior to static images in discerning complete collapse of the smallest airway space, an important marker of RS. This suggests a possible benefit to adding dynamic MRI evaluation for prenatal diagnosis of this condition.
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Affiliation(s)
- Vera de Vreugt
- Research Student, Department of Oral and Maxillofacial Surgery, Erasmus Medical Center, Rotterdam, The Netherlands
| | - Jungwhan John Choi
- Assistant Professor, University of Cincinnati, Cincinnati, OH; Pediatric Radiologist, Fetal Care Center, Cincinnati Children's Hospital, Cincinnati, OH
| | - Ryan M Caprio
- Clinical Research Specialist, Department of Plastic & Oral Surgery, Boston Children's Hospital, Boston, MA
| | - Snigdha Jindal
- Assistant Professor, University of Cincinnati, Cincinnati, OH; Pediatric Radiologist, Fetal Care Center, Cincinnati Children's Hospital, Cincinnati, OH
| | - Maarten J Koudstaal
- Research Student, Department of Oral and Maxillofacial Surgery, Erasmus Medical Center, Rotterdam, The Netherlands
| | - Judy A Estroff
- Associate Professor, Harvard Medical School, Boston, MA; Pediatric Radiologist, Department of Radiology, Boston Children's Hospital, Boston, MA
| | - Cory M Resnick
- Associate Professor of Oral and Maxillofacial Surgery, Harvard School of Dental Medicine and Harvard Medical School, Boston, MA; Oral and Maxillofacial Surgeon, Department of Plastic and Oral Surgery, Boston Children's Hospital, Boston, MA.
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Cang Z, Cui J, Pei J, Wang Z, Du Y, Mu S, Dou W, Fan X, Zhang X, Li Y. Prenatal diagnosis of micrognathia: a systematic review. Front Pediatr 2023; 11:1161421. [PMID: 37124181 PMCID: PMC10130438 DOI: 10.3389/fped.2023.1161421] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/08/2023] [Accepted: 03/28/2023] [Indexed: 05/02/2023] Open
Abstract
Purpose This systematic review aimed to analyze the characteristics of different diagnostic techniques for micrognathia, summarize the consistent diagnostic criteria of each technique, and provide a simple and convenient prenatal diagnosis strategy for micrognathia. Methods In accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, the search was undertaken in three international databases (PubMed, Scopus, and Web of Science). The three reviewers assessed all papers and extracted the following variables: author's name and year of publication, country, study design, number of participants, gestational age, equipment for prenatal examination, biometric parameters related to micrognathia, main results. Results A total of 25 articles included in the analysis. Nineteen articles described cross-sectional studies (76 percent), 4 (16 percent) were case-control studies, and 2 (8 percent) were cohort studies. Fifteen studies (60 percent) had a prospective design, 9 (36 percent) had a retrospective design, and one (4 percent) had both prospective and retrospective design. Thirty-two percent of the studies (n = 8) were performed in USA, and the remaining studies were performed in China (n = 4), Israel (n = 3), Netherlands (n = 3), UK (n = 1), France (n = 1), Italy (n = 1), Belgium(n = 1), Germany (n = 1), Spain (n = 1), and Austria (n = 1). The prenatal diagnosis of micrognathia can be performed as early as possible in the first trimester, while the second and third trimester of pregnancy were the main prenatal diagnosis period. The articles that were included in the qualitative synthesis describe 30 biometric parameters related to the mandible. Conclusion Of the 30 biometric parameters related to the mandible, 15 can obtain the simple and convenient diagnostic criteria or warning value for micrognathia. Based on these diagnostic criteria or warning value, clinicians can quickly make a preliminary judgment on facial deformities, to carry out cytologic examination to further clarify the diagnosis of micrognathia.
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Affiliation(s)
- Zhengqiang Cang
- Department of Plastic and Reconstructive Surgery, Xijing Hospital, The Fourth Military Medical University, Xi’an, China
| | - Jiangbo Cui
- Department of Plastic and Reconstructive Surgery, Xijing Hospital, The Fourth Military Medical University, Xi’an, China
| | - Jiaomiao Pei
- Department of Plastic and Reconstructive Surgery, Xijing Hospital, The Fourth Military Medical University, Xi’an, China
| | - Zheng Wang
- Department of Ultrasound Diagnosis, Qinhuang Hospital, Xi’an, China
| | - Yichen Du
- Department of Plastic and Reconstructive Surgery, Xijing Hospital, The Fourth Military Medical University, Xi’an, China
| | - Siqi Mu
- Department of Plastic and Reconstructive Surgery, Xijing Hospital, The Fourth Military Medical University, Xi’an, China
| | - Wenjie Dou
- Department of Plastic and Reconstructive Surgery, Xijing Hospital, The Fourth Military Medical University, Xi’an, China
| | - Xing Fan
- Department of Plastic and Reconstructive Surgery, Xijing Hospital, The Fourth Military Medical University, Xi’an, China
- Correspondence: Xing Fan Xi Zhang Yang Li
| | - Xi Zhang
- Department of Plastic and Reconstructive Surgery, Xijing Hospital, The Fourth Military Medical University, Xi’an, China
- Correspondence: Xing Fan Xi Zhang Yang Li
| | - Yang Li
- Department of Plastic and Reconstructive Surgery, Xijing Hospital, The Fourth Military Medical University, Xi’an, China
- Correspondence: Xing Fan Xi Zhang Yang Li
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Zhou X, Ji C, Sun L, Yin L, Deng X, Pan Q, Zhang J, Yang Z, Zheng C, Ling C, Shi L, Wu Y. Clinical value of fetal facial profile markers during the first trimester. BMC Pregnancy Childbirth 2022; 22:738. [PMID: 36184592 PMCID: PMC9526988 DOI: 10.1186/s12884-022-05028-9] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/28/2022] [Accepted: 09/05/2022] [Indexed: 11/11/2022] Open
Abstract
OBJECTIVES To study the correlations between facial profile markers and crown-lump length (CRL) in a Chinese population, and to evaluate the clinical value of these markers for abnormal fetuses during the first trimester (11 to 13+6 gestational weeks). METHODS: The facial profile markers were as followings: inferior facial angle (IFA), maxilla-nasion-mandible (MNM) angle, facial maxillary angle (FMA), frontal space (FS) distance and profile line (PL) distance. These markers were measured in facial mid-sagittal section through ViewPoint 6 software. The diagnostic value of these markers for abnormal fetuses was assessed by receiver operating characteristic (ROC) curves. RESULTS According to the first-trimester scanning (FTS) and follow-up, 31 fetuses were enrolled in the abnormal group, including 14 cases of trisomy 21, 7 cases of trisomy 18, 10 cases with cleft lip and palate (CLP), and 1000 normal fetuses were selected. Among the normal fetuses, the IFA, FS distance and PL distance had negative correlations with CRL. The MNM angle and FMA had positive correlations with CRL. The mean IFA values for fetuses with trisomy 21 and trisomy 18 were 74.11° (standard deviation (SD) 7.48) and 69.88° (SD 7.08), respectively, which were significantly smaller than the normal fetuses (p = 0.013; p = 0.003). The mean MNM angle of fetuses with trisomy 18 and CLP were 6.98° (SD 2.61) and 9.41° (SD 2.57), respectively, which were significantly greater than the normal fetuses (p = 0.005; p < 0.001). The mean FMA values of trisomy 18 fetuses were 63.95° (SD 4.77), which was significantly smaller than the normal fetuses (p < 0.001). The mean FS distance of CLP fetuses was -0.22 mm (SD 1.38), which was significantly smaller than the normal fetuses (p < 0.001). The mean PL distance of trisomy 21, trisomy 18 and CLP fetuses were 2.89 mm (SD 0.41), 2.91 mm (SD 0.56) and 2.71 mm (SD 0.37), respectively. The difference with the normal fetuses had no statistical significance (p = 0.56; p = 0.607; p = 0.54). CONCLUSIONS Fetal facial profile markers had excellent correlations with CRL during the first trimester. IFA had certain clinical significance in detecting trisomy 21. FMA, IFA and MNM angle were reliable indicators for screening trisomy 18. The abnormal MNM angle and FS distance could be used as sensitive indicators for CLP. However, PL distance was not the best markers for trisomy 21, trisomy 18 and CLP.
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Affiliation(s)
- Xiaofeng Zhou
- Department of Ultrasound, Changshu Hospital Affiliated to Nanjing University of Chinese Medicine, No. 6 Huanghe Street, Changshu, 215500 Jiangsu China
| | - Chunya Ji
- Center for Medical Ultrasound, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, Gusu School, Nanjing Medical University, No. 26 Daoqian Street, Suzhou, 215002 Jiangsu China
| | - Lingling Sun
- Center for Medical Ultrasound, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, Gusu School, Nanjing Medical University, No. 26 Daoqian Street, Suzhou, 215002 Jiangsu China
| | - Linliang Yin
- Center for Medical Ultrasound, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, Gusu School, Nanjing Medical University, No. 26 Daoqian Street, Suzhou, 215002 Jiangsu China
| | - Xuedong Deng
- Center for Medical Ultrasound, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, Gusu School, Nanjing Medical University, No. 26 Daoqian Street, Suzhou, 215002 Jiangsu China
| | - Qi Pan
- Center for Medical Ultrasound, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, Gusu School, Nanjing Medical University, No. 26 Daoqian Street, Suzhou, 215002 Jiangsu China
| | - Jun Zhang
- Center for Medical Ultrasound, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, Gusu School, Nanjing Medical University, No. 26 Daoqian Street, Suzhou, 215002 Jiangsu China
| | - Zhong Yang
- Center for Medical Ultrasound, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, Gusu School, Nanjing Medical University, No. 26 Daoqian Street, Suzhou, 215002 Jiangsu China
| | - Chenhan Zheng
- Center for Medical Ultrasound, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, Gusu School, Nanjing Medical University, No. 26 Daoqian Street, Suzhou, 215002 Jiangsu China
| | - Chen Ling
- Center for Medical Ultrasound, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, Gusu School, Nanjing Medical University, No. 26 Daoqian Street, Suzhou, 215002 Jiangsu China
| | - Liping Shi
- Department of Ultrasound, Changshu Hospital Affiliated to Nanjing University of Chinese Medicine, No. 6 Huanghe Street, Changshu, 215500 Jiangsu China
| | - Yanqing Wu
- Department of Ultrasound, Changshu Hospital Affiliated to Nanjing University of Chinese Medicine, No. 6 Huanghe Street, Changshu, 215500 Jiangsu China
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10
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Booncharoen P, Sawaddisan R, Suwanrath C, Geater A. Reference ranges of fetal mandible measurements: Inferior facial angle, jaw index, mandible width/maxilla width ratio and mandible length in Thai fetuses at 15 to 23 weeks of gestation. PLoS One 2022; 17:e0269095. [PMID: 35648768 PMCID: PMC9159587 DOI: 10.1371/journal.pone.0269095] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/05/2021] [Accepted: 05/13/2022] [Indexed: 11/26/2022] Open
Abstract
Objectives To determine the normal distribution of 1) inferior facial angles (IFA), 2) jaw index, 3) mandible width/maxilla width ratio (MD/MX ratio), and 4) mandible length (ML) in second trimester Thai fetuses. Methods A prospective study was performed between April 1 and October 31, 2020, at the Maternal-Fetal Medicine Unit of Songklanagarind Hospital. Transabdominal ultrasonography was performed on Thai singleton pregnant women at 150/7 to 236/7 weeks of gestation to measure IFA, jaw index, MD/MX ratio and ML. All women received standard antenatal care and were followed up until delivery. The exclusion criteria were multifetal gestation, congenital anomaly, chromosomal abnormality, fetal growth restriction, abnormal amniotic fluid volume, suspected abnormality of fetal mandible, maxilla or jaws based on the proposed criteria from previous studies and suspected neonatal structural or genetic abnormalities postnatally. Quantile regression was used to estimate changes in the median, 5th and 95th percentiles of each parameter across gestational ages and to generate formulas for predicting the 5th percentile value for each parameter. Results The results of 291 women were analyzed. Scatter plots and reference ranges of each parameter were generated. IFA, jaw index and ML values significantly increased, while the MD/MX ratio value significantly decreased, with increasing gestational age. The formulas calculated for predicting the 5th percentile value for each parameter were IFA = 55.12 + 0.045*(GA in days—136) jaw index = 37.272 + 0.01693*(GA in days—136) MD/MX ratio = exp(0.027–0.00110*(GA in days—136)) ML = 20.83 + 0.243*(GA in days—136). Conclusions The reference ranges and formulas to calculate the 5th percentile values of mandible parameters in Thai fetuses were developed. Trial registration This study has been reviewed and approved by the Thai Clinical Trials Registry with identification number TCTR20210602003.
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Affiliation(s)
- Pichaya Booncharoen
- Department of Obstetrics and Gynecology, Faculty of Medicine, Prince of Songkla University, Songkhla, Thailand
| | - Rapphon Sawaddisan
- Department of Obstetrics and Gynecology, Faculty of Medicine, Prince of Songkla University, Songkhla, Thailand
- * E-mail:
| | - Chitkasaem Suwanrath
- Department of Obstetrics and Gynecology, Faculty of Medicine, Prince of Songkla University, Songkhla, Thailand
| | - Alan Geater
- Epidemiology Unit, Faculty of Medicine, Prince of Songkla University, Songkhla, Thailand
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Ji X, Han Z, Wu Y, Zhang S. Study on normal reference value of fetal facial profile markers during the first trimester of pregnancy. Transl Pediatr 2022; 11:99-107. [PMID: 35242655 PMCID: PMC8825941 DOI: 10.21037/tp-21-573] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 11/05/2021] [Accepted: 01/07/2022] [Indexed: 11/06/2022] Open
Abstract
BACKGROUND To establish a normal reference value for fetal facial profile markers during the first trimester of pregnancy. METHODS We collected the data of 800 pregnant women who were examined during early pregnancy. The range of values of inferior facial angle (IFA), frontal nasal-mental (FNM) angle, frontomaxillary facial (FMF) angle, mandibulomaxillary facial (MMF) angle, fetal profile line (FPL), and maxilla-nasion-mandible (MNM) angle in normal fetuses of 11-13+6 weeks was measured and correlated. For the 1,000 fetuses that were screened in the early pregnancy period (11-13+6 weeks), follow-up the normal fetus, observe and measure the above parameters to obtain the normal measurement range. These markers were measured through GE Voluson E8 ultrasound machines by two experienced sonographers. RESULTS A total of Images of 800 fetuses were included in the study. The results showed that the average value of fetal nasal bone was 11.9 mm at 11-13+6 weeks, which increased with the increase of crown-rump length (CRL); the average value of IFA angle was 64.91°, which has no obvious correlation with CRL; the average value of FNM angle was 143.79°, and the FNM angle decreased slightly with the increase of CRL. Both the FMF angle and the MMF angle decreased with the increase of CRL, and the ratio of FMF/MMF was fixed at 0.75; the average value of MNM angle was 9.55°, which had no obvious correlation with CRL; FP line value was "0" in 177 cases, The positive value of 623 cases did not change significantly with the growth of the fetus, and the gap of the mandible of the normal fetus was almost visible. CONCLUSIONS This study established a range of normal reference values for facial and facial angles during early pregnancy, providing a reference for prenatal early detection, early diagnosis of fetal micrognathia, and other facial abnormalities.
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Affiliation(s)
- Xueqin Ji
- Department of Obstetrics and Gynecology, The First Affiliated Hospital of Xi'an Jiao Tong University, Xi'an, China.,Department of Ultrasound Medicine, Ningxia Maternal and Child Health Care Hospital (Ningxia Children's Hospital), Yinchuan, China
| | - Zhen Han
- Department of Obstetrics and Gynecology, The First Affiliated Hospital of Xi'an Jiao Tong University, Xi'an, China
| | - Yang Wu
- Department of Ultrasound Medicine, Ningxia Maternal and Child Health Care Hospital (Ningxia Children's Hospital), Yinchuan, China
| | - Simin Zhang
- Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, China
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12
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Li H, Zhu Z. Ultrasonographic study of fetal mandibular markers during the first trimester in a Chinese population. J Obstet Gynaecol Res 2021; 48:333-339. [PMID: 34856646 DOI: 10.1111/jog.15121] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/11/2021] [Revised: 11/18/2021] [Accepted: 11/26/2021] [Indexed: 11/27/2022]
Abstract
AIM To establish reference ranges for fetal mandibular markers in low-risk singleton pregnancies between 11 and 13 + 6 weeks of gestation in a Chinese population. METHODS The inferior facial angle (IFA), transverse, and anteroposterior diameters of the mandible, and mandibular length were measured at 11-13 + 6 weeks of gestation. The utility of these sonographic markers for detecting micrognathia was explored in seven fetuses. RESULTS In healthy fetuses at 11-13 + 6 weeks, there were linear correlations between gestational age and the transverse (Y = -15.615 + 1.987X, r = 0.718, p < 0.001) and anteroposterior (Y = -8.557 + 1.101X, r = 0.581, p < 0.001) diameters of the mandible; mean ratio of the anteroposterior: transverse diameters of the mandible decreased with gestational age (Y = 0.603-0.003X, r = 0.018, p = 0.755); there was a positive correlation between crown rump length and mandibular length (mandible length = 0.861 + 0.137*crown rump length; r = 0.723, p < 0.001); and there was a positive correlation between crown rump length and IFA (r = 0.234, p < 0.05). Reference ranges were: mean ratio of anteroposterior diameter: transverse diameter of the mandible 0.56; mean mandibular length 9.05 mm; and median IFA 66.5°. The values for these mandibular markers in seven cases of fetal micrognathia were outside the normal range. CONCLUSIONS Evaluations of fetal mandibular markers during first trimester ultrasound screening may contribute to the early detection and diagnosis of micrognathia. We recommend obtaining a subjective impression of the mandible on the mid-sagittal view routinely used to measured nuchal translucency, followed by targeted objective measurements on the mid-sagittal and axial views in suspected cases.
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Affiliation(s)
- Hezhou Li
- Zhengzhou University Third Hospital, and Henan Province Women and Children's Hospital, Zhengzhou, Henan, China
| | - Zhengfeng Zhu
- Zhengzhou University Third Hospital, and Henan Province Women and Children's Hospital, Zhengzhou, Henan, China
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13
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Wiechers C, Kagan KO. Fetal markers for the detection of infants with craniofacial malformation. Semin Fetal Neonatal Med 2021; 26:101291. [PMID: 34593337 DOI: 10.1016/j.siny.2021.101291] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/19/2022]
Abstract
Facial clefts and Robin sequence (RS) share the timing of the diagnosis during the course of pregnancy, their association with genetic diseases and the subsequent management following the initial diagnosis. If a suspicion of a facial cleft or RS is made, a detailed anatomical examination of the fetus should be carried out to identify further anomalies. This may also involve genetic testing including a microarray or an exome analysis. Interdisciplinary counseling, including pre- and postnatal experts with sufficient experience in the management of such neonates, should be involved in this counseling. Parents should be informed about disease-specific therapeutic options and postnatal outcome. Delivery should take place in a center with experience in craniofacial malformations where clinicians are prepared for potentially life-threatening airway obstruction immediately after birth.
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Affiliation(s)
- Cornelia Wiechers
- Department of Neonatology, University Hospital, Eberhard Karls University, Calwerstraße 7, Tübingen, 72076, Germany; Interdisciplinary Center for Craniofacial Malformations, University Hospital, Eberhard Karls University, Tübingen, Germany.
| | - Karl Oliver Kagan
- Department of Gynecology and Obstetrics, University Hospital, Eberhard Karls University, Calwerstraße 7, Tübingen, 72076, Germany.
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14
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Zhen L, Yang YD, Xu LL, Cao Q, Li DZ. Fetal micrognathia in the first trimester: An ominous finding even after a normal array. Eur J Obstet Gynecol Reprod Biol 2021; 263:176-180. [PMID: 34218205 DOI: 10.1016/j.ejogrb.2021.06.031] [Citation(s) in RCA: 6] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/20/2021] [Revised: 04/27/2021] [Accepted: 06/14/2021] [Indexed: 10/21/2022]
Abstract
OBJECTIVE To evaluate the prognosis of fetuses with a prenatal diagnosis of micrognathia in the first trimester. STUDY DESIGN Over a 3-year period, patients with fetal micrognathia were detected at the time of nuchal translucency screening. The medical records of these pregnancies were reviewed, including maternal demographics, sonographic findings, genetic testing results and pregnancy outcomes. RESULTS Forty-three cases of first-trimester micrognathia were included in this study. Chromosomal abnormalities were detected in seven cases. Of the fetuses with a normal array, further investigation of monogenic disorders with whole-exome sequencing was undertaken in 13 cases. Monogenic syndromes were identified in eight cases, including six with de-novo dominant alleles and two with recessive conditions. Whole-exome sequencing was refused in 23 cases; among these, other additional anomalies were found on anatomic ultrasound in 10 cases. CONCLUSION This study demonstrated that caution should be adopted when finding an apparently isolated micrognathia in early gestation, even with a normal array. A diagnosis of genetic syndrome or multiple anomalies on subsequent scans is most likely, and will affect the final prognosis.
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Affiliation(s)
- Li Zhen
- Prenatal Diagnostic Centre, Guangzhou Women and Children's Medical Centre affiliated to Guangzhou Medical University, Guangzhou, Guangdong, China
| | - Yan-Dong Yang
- Department of Ultrasound, The Sixth Affiliated Hospital of Sun Yat-sen University, Guangzhou, China
| | - Li-Li Xu
- Prenatal Diagnostic Centre, Guangzhou Women and Children's Medical Centre affiliated to Guangzhou Medical University, Guangzhou, Guangdong, China
| | - Qun Cao
- Prenatal Diagnostic Centre, Guangzhou Women and Children's Medical Centre affiliated to Guangzhou Medical University, Guangzhou, Guangdong, China
| | - Dong-Zhi Li
- Prenatal Diagnostic Centre, Guangzhou Women and Children's Medical Centre affiliated to Guangzhou Medical University, Guangzhou, Guangdong, China.
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15
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Ji C, Jiang X, Yin L, Deng X, Yang Z, Pan Q, Zhang J, Liang Q. Ultrasonographic study of fetal facial profile markers during the first trimester. BMC Pregnancy Childbirth 2021; 21:324. [PMID: 33894762 PMCID: PMC8070329 DOI: 10.1186/s12884-021-03813-6] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/15/2021] [Accepted: 04/20/2021] [Indexed: 01/20/2023] Open
Abstract
Background To establish reference ranges of fetal facial profile markers and study their correlations with crown-rump length (CRL) during the first trimester (11 ~ 13+ 6 weeks’ gestation) in a Chinese population. Methods Ultrasonographic images of measuring fetal nuchal translucency (NT) were retrospectively selected randomly in normal fetuses whose parents were both Chinese. The facial markers included inferior facial angle (IFA), maxilla-nasion-mandible (MNM) angle, facial maxillary angle (FMA) and profile line (PL) distance. These markers were measured through ViewPoint 6 software by two experienced sonographers. Results Three hundred and eighty fetuses were selected. The ICCs (95 % CI) of intra-operator 1 reproducibility of IFA, MNM angle, FMA, PL distance were 0.944 (0.886 ~ 0.973), 0.804 (0.629 ~ 0.902), 0.834 (0.68 ~ 0.918) and 0.935 (0.868 ~ 0.969), respectively. The ICCs (95 % CI) of intra-operator 2 reproducibility of IFA, MNM angle, FMA, PL distance were 0.931 (0.857 ~ 0.967), 0.809 (0.637 ~ 0.904), 0.786 (0.600 ~ 0.892) and 0.906 (0.813 ~ 0.954), respectively. The ICCs (95 % CI) of inter-operator reproducibility of IFA, MNM angle, FMA, PL distance were 0.885 (0.663 ~ 0.953), 0.829 (0.672 ~ 0.915), 0.77 (0.511 ~ 0.891) and 0.844 (0.68 ~ 0.925), respectively. The average ± SD of IFA, MNM angle, FMA and PL distance were 80.2°±7.25°, 4.17°±1.19°, 75.36°±5.31°, 2.78 ± 0.54 mm, respectively. IFA and PL distance significantly decreased with CRL, while MNM angle and FMA significantly increased with CRL. Conclusions It was feasible to measure fetal facial markers during the first trimester. In Chinese population, the reference ranges of IFA, MNM angle, FMA and PL distance were 80.2°±7.25°, 4.17°±1.19°, 75.36°±5.31°, 2.78 ± 0.54 mm, respectively, and the measurements were found to correlate with CRL.
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Affiliation(s)
- Chunya Ji
- Center for Medical Ultrasound, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, No. 26 Daoqian Street, 215002 Suzhou, Jiangsu China
| | - Xiaoli Jiang
- Center for Medical Ultrasound, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, No. 26 Daoqian Street, 215002 Suzhou, Jiangsu China
| | - Linliang Yin
- Center for Medical Ultrasound, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, No. 26 Daoqian Street, 215002 Suzhou, Jiangsu China
| | - Xuedong Deng
- Center for Medical Ultrasound, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, No. 26 Daoqian Street, 215002 Suzhou, Jiangsu China
| | - Zhong Yang
- Center for Medical Ultrasound, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, No. 26 Daoqian Street, 215002 Suzhou, Jiangsu China
| | - Qi Pan
- Center for Medical Ultrasound, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, No. 26 Daoqian Street, 215002 Suzhou, Jiangsu China
| | - Jun Zhang
- Center for Medical Ultrasound, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, No. 26 Daoqian Street, 215002 Suzhou, Jiangsu China
| | - Qing Liang
- Center for Medical Ultrasound, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, No. 26 Daoqian Street, 215002 Suzhou, Jiangsu China
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16
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Modelling growth curves of the normal infant's mandible: 3D measurements using computed tomography. Clin Oral Investig 2021; 25:6365-6375. [PMID: 33864148 PMCID: PMC8531114 DOI: 10.1007/s00784-021-03937-1] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/15/2020] [Accepted: 03/31/2021] [Indexed: 11/04/2022]
Abstract
Objectives Data on normal mandibular development in the infant is lacking though essential to understand normal growth patterns and to discriminate abnormal growth. The aim of this study was to provide normal linear measurements of the mandible using computed tomography performed in infants from 0 to 2 years of age. Material and methods 3D voxel software was used to calculate mandibular body length, mandibular ramus length, bicondylar width, bigonial width and the gonial angle. Intra- and inter-rater reliability was assessed for these measurements. They were found to be sufficient for all distances; intra-class correlation coefficients were all above 0.9. Regression analysis for growth modelling was performed. Results In this multi-centre retrospective study, 109 CT scans were found eligible that were performed for various reasons (e.g. trauma, craniosynostosis, craniofacial abscesses). Craniosynostosis patients had larger mandibular measurements compared to non-craniosynostosis patients and were therefore excluded. Fifty-one CT scans were analysed. Conclusions Analysis showed that the mandible increases more in size vertically (the mandibular ramus) than horizontally (the mandibular body). Most of the mandibular growth occurs in the first 6 months. Clinical relevance These growth models provide insight into normal mandibular development in the first 2 years of life. This reference data facilitates discrimination between normal and abnormal mandibular growth. Supplementary Information The online version contains supplementary material available at 10.1007/s00784-021-03937-1.
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17
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Kruse T, Neuschulz J, Wilhelm L, Ritgen J, Braumann B. Prenatal Diagnosis of Robin Sequence: Sensitivity, Specificity, and Clinical Relevance of an Index for Micrognathia. Cleft Palate Craniofac J 2020; 58:1012-1019. [PMID: 33228397 DOI: 10.1177/1055665620972297] [Citation(s) in RCA: 5] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/11/2023] Open
Abstract
OBJECTIVE Micrognathia in connection with glossoptosis (called Robin sequence) may lead to life-threatening respiratory problems immediately after birth. An objective detection during prenatal routine ultrasound sonography is possible using an index that relates fetal lower jaw length to femur length or gestational age. The aim of this study was to test the method's sensitivity and specificity and to discuss its predictive power concerning neonatal respiratory insufficiency. DESIGN Patients with subjectively identified suspicious signs in the sagittal profile view were included in the study: Two-dimensional serial ultrasound scans of their fetal mandible were used to measure the lower jaw lengths and compare them to predicted values according to an index, derived from 313 healthy fetuses. Follow-up data provided additional information on the clinical appearance of the newborns. RESULTS The index showed a high sensitivity: 15 of the 16 cases with a micrognathia were correctly diagnosed (sensitivity of 93.75%). Follow-up data showed that newborns with similar index values differed in terms of their upper airway obstruction and treatment need. CONCLUSION Fetal mandibular micrognathia can be objectively evaluated with the help of the index. The method allows an early detection of micrognathia, which helps to take the necessary steps for proper treatment of potential life-threatening respiratory impairment. Observations ranging outside the prediction interval could prompt the ultrasonographer to check for other associated malformations.
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Affiliation(s)
- Teresa Kruse
- 14309Department of Orthodontics, University of Cologne, Cologne, Germany.,Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany
| | - Julia Neuschulz
- 14309Department of Orthodontics, University of Cologne, Cologne, Germany.,Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany
| | - Lucas Wilhelm
- Practice for Prenatal Diagnostics and Fetal Echocardiography, Frankfurt, Germany
| | - Jochen Ritgen
- Practice for Prenatal Medicine and Genetics, Cologne, Germany
| | - Bert Braumann
- 14309Department of Orthodontics, University of Cologne, Cologne, Germany.,Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany
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Puricelli MD, Rahbar R, Allen GC, Balakrishnan K, Brigger MT, Daniel SJ, Fayoux P, Goudy S, Hewitt R, Hsu WC, Ida JB, Johnson R, Leboulanger N, Rickert SM, Roy S, Russell J, Rutter M, Sidell D, Soma M, Thierry B, Trozzi M, Zalzal G, Zdanski CJ, Smith RJH. International Pediatric Otolaryngology Group (IPOG): Consensus recommendations on the prenatal and perinatal management of anticipated airway obstruction. Int J Pediatr Otorhinolaryngol 2020; 138:110281. [PMID: 32891939 DOI: 10.1016/j.ijporl.2020.110281] [Citation(s) in RCA: 14] [Impact Index Per Article: 2.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/19/2020] [Accepted: 07/25/2020] [Indexed: 12/15/2022]
Abstract
OBJECTIVE To make recommendations on the identification, routine evaluation, and management of fetuses at risk for airway compromise at delivery. METHODS Recommendations are based on expert opinion by members of the International Pediatric Otolaryngology Group (IPOG). A two-iterative Delphi method questionnaire was distributed to all members of the IPOG and responses recorded. The respondents were given the opportunity to comment on the content and format of the survey, which was modified for the second round. "Consensus" was defined by >80% respondent affirmative responses, "agreement" by 51-80% affirmative responses, and "no agreement" by 50% or less affirmative responses. RESULTS Recommendations are provided regarding etiologies of perinatal airway obstruction, imaging evaluation, adjunct evaluation, multidisciplinary team and decision factors, micrognathia management, congenital high airway obstruction syndrome management, head and neck mass management, attended delivery procedure, and delivery on placental support procedure. CONCLUSIONS Thorough evaluation and thoughtful decision making are required to optimally balance fetal and maternal risks/benefits.
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Affiliation(s)
- Michael D Puricelli
- Department of Otolaryngology, University of Iowa Hospitals and Clinics, Iowa City, IA, USA.
| | - Reza Rahbar
- Department of Otolaryngology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA
| | - Gregory C Allen
- Department of Otolaryngology - Head & Neck Surgery, University of Colorado School of Medicine, Aurora, CO, USA
| | - Karthik Balakrishnan
- Department of Otolaryngology, Head and Neck Surgery, Division of Pediatric Otolaryngology, Stanford University, Stanford, CA, USA
| | - Matthew T Brigger
- Division of Pediatric Otolaryngology, Rady Children's Hospital San Diego, University of California San Diego, San Diego, CA, USA
| | - Sam J Daniel
- Department of Otolaryngology-Head and Neck Surgery, McGill University, Montreal, Canada
| | - Pierre Fayoux
- Department of Pediatric Otolaryngology Head-Neck Surgery, University Hospital of Lille, Lille, France
| | - Steven Goudy
- Department of Otolaryngology-Head and Neck Surgery, Emory University School of Medicine, Atlanta, GA, USA
| | - Richard Hewitt
- Department of Ear, Nose and Throat Surgery, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
| | - Wei-Chung Hsu
- Department of Otolaryngology, College of Medicine, National Taiwan University and National Taiwan University Hospital, Taipei, Taiwan
| | - Jonathan B Ida
- Division of Pediatric Otolaryngology, Ann & Robert H Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL, USA
| | - Romaine Johnson
- Otolaryngology-Head and Neck Surgery, UT Southwestern Medical Center, Dallas, TX, USA
| | - Nicolas Leboulanger
- Pediatric Otolaryngology - Head and Neck Surgery, Necker Enfants Malades Hospital, Paris University, Paris, France
| | - Scott M Rickert
- Department of Otolaryngology, NYU Langone, New York, NY, USA
| | - Soham Roy
- Department of Otorhinolaryngology, University of Texas - Houston, Houston, TX, USA
| | - John Russell
- Department of Paediatric Otolaryngology, Childrens Health Ireland, Crumlin, Ireland
| | - Michael Rutter
- FRACS, Division of Pediatric Otolaryngology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA
| | - Douglas Sidell
- Department of Otolaryngology, Head and Neck Surgery, Division of Pediatric Otolaryngology, Stanford University, Stanford, CA, USA
| | - Marlene Soma
- Department of Otolaryngology, Sydney Children's Hospital, Randwick, Australia
| | - Briac Thierry
- Pediatric Otolaryngology - Head and Neck Surgery, Necker Enfants Malades Hospital, Paris University, Paris, France
| | - Marilena Trozzi
- Airway Surgery Unit, Pediatric Surgery Department, Bambino Gesù Children's Hospital, Rome (IT), Italy
| | - George Zalzal
- Department of Otolaryngology, Children's National Health System, Washington, DC, USA
| | - Carlton J Zdanski
- Division of Pediatric Otolaryngology/Head and Neck Surgery, University of North Carolina, Chapel Hill, NC, USA
| | - Richard J H Smith
- Department of Otolaryngology, University of Iowa Hospitals and Clinics, Iowa City, IA, USA
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Shahi N, Phillips R, Meier M, Grover T, Galan H, Zaretsky M, Meyers M, Kelley P, Marwan AI. Outcomes of Airway Management in Micrognathia and Retrognathia Patients Born at Fetal versus Nonfetal Centers. Fetal Diagn Ther 2020; 47:933-938. [PMID: 33105131 DOI: 10.1159/000510856] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/31/2019] [Accepted: 08/11/2020] [Indexed: 11/19/2022]
Abstract
OBJECTIVES There is a paucity of evidence to guide the perinatal management of difficult airways in fetuses with micrognathia. We aimed to (1) develop a postnatal grading system based on the extent of airway intervention required at birth to assess the severity of micrognathic airways and (2) compare trends in airway management and outcomes by location of birth [nonfetal center (NFC), defined as a hospital with or without an NICU and no fetal team, versus fetal center (FC), defined as a hospital with an NICU and fetal team]. METHODS We retrospectively reviewed the prenatal and postnatal records of all neonates diagnosed with micrognathia from January 2010 to April 2018 at a quaternary children's hospital. We developed a novel grading scale, the Micrognathia Grading Scale (MGS), to grade the extent of airway intervention at birth from 0 (no airway intervention) to 4 (requirement of EXIT or advanced airway instrumentation for airway securement). RESULTS We identified 118 patients with micrognathia. Eighty-nine percent (105/118) were eligible for grading using the MGS. When the MGS was applied, the airway grades were as follows: grade 0 (30%), grade 1 (10%), grade 2 (9%), grade 3 (48%), and grade 4 (4%). A quarter of micrognathic patients with grade 0-2 airways had postnatal hospital readmissions for airway obstruction after birth, of which all were born at NFC. Over 40% of patients with grade 3-4 micrognathic airways required airway intervention within 24 h of birth. Overall, NFC patients had a readmission rate of (27%) for airway obstruction after birth compared to FC patients (17%). CONCLUSIONS Due to the high incidence of grade 3-4 airways on the MGS in micrognathic patients, fetuses with prenatal findings suggestive of micrognathia should be referred to a comprehensive fetal care center capable of handling complex neonatal airways. For grade 0-2 airways, infants frequently had postnatal complications necessitating airway intervention; early referral to a multidisciplinary team for both prenatal and postnatal airway management is recommended.
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Affiliation(s)
- Niti Shahi
- Division of Pediatric Surgery, Children's Hospital Colorado, Department of Surgery, University of Colorado School of Medicine, Aurora, Colorado, USA,
| | - Ryan Phillips
- Division of Pediatric Surgery, Children's Hospital Colorado, Department of Surgery, University of Colorado School of Medicine, Aurora, Colorado, USA
| | - Maxene Meier
- The Center for Research in Outcomes for Children's Surgery, University of Colorado School of Medicine, Aurora, Colorado, USA
| | - Theresa Grover
- Division of Neonatal-Perinatal Medicine, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, Colorado, USA
| | - Henry Galan
- Division of Maternal-Fetal Medicine, University of Colorado School of Medicine, Aurora, Colorado, USA
| | - Michael Zaretsky
- Division of Maternal-Fetal Medicine, University of Colorado School of Medicine, Aurora, Colorado, USA
| | - Mariana Meyers
- Division of Radiology, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, Colorado, USA
| | - Peggy Kelley
- Division of Otolaryngology, Pediatric Surgery, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, Colorado, USA
| | - Ahmed I Marwan
- Division of Pediatric Surgery, Children's Hospital Colorado, Department of Surgery, University of Colorado School of Medicine, Aurora, Colorado, USA
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What does the normal fetal face look like? MR imaging of the developing mandible and nasal cavity. Eur J Radiol 2020; 126:108937. [PMID: 32200291 DOI: 10.1016/j.ejrad.2020.108937] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/19/2019] [Revised: 02/16/2020] [Accepted: 03/02/2020] [Indexed: 11/21/2022]
Abstract
PURPOSE Analyze fetal facial structures using MR imaging scans in an aim to establish normal biometrical measures of fetal nasal and mandibular structures for multiple gestational weeks, comprise nomograms and compare female and male fetuses. METHODS A Historic cohort study of 255 fetal facial MR imaging scans was performed at a tertiary medical center during a 4-year period. Clinical data was collected from electronic medical charts. Length of septal height (SH), septal length (SL), Interocular Distance(IOD), maximal nasal length(MNL), mandibular vertebral length(MVL), antero-posterior diameter(APD), inferior facial angle(IFA) and biparietal diameter(BPD) were measured and compared with gender and gestational age (GA). Interrater and intrarater reliability was investigated. RESULTS Normal measures were established for each gestational age. We found that all parameters but IFA correlated with GA. Males had a longer SL, BPD and MNL while females had a wider IFA. CONCLUSIONS Novel facial biometric parameters that correlate with GA hold cardinal information for the prenatal evaluation of facial development and thus surface the need for additional research in order to asses these findings as radiologic markers for facial structural pathologies.
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Carvalho AP, Estevinho C, Coelho M, Rocha J, Marinho C, Rodrigues G. Abnormal Fetal Profile at First-trimester Ultrasound Scan Complicated by Severe Polyhydramnios at the Second Half of Pregnancy. J Med Ultrasound 2020; 29:65-67. [PMID: 34084722 PMCID: PMC8081113 DOI: 10.4103/jmu.jmu_103_19] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/26/2019] [Revised: 11/25/2019] [Accepted: 12/03/2019] [Indexed: 12/12/2022] Open
Affiliation(s)
- Ana Portela Carvalho
- Department of Obstetrics and Gynaecology, Centro Hospitalar do Tâmega e Sousa, Penafiel, Porto, Portugal
| | - Catarina Estevinho
- Department of Obstetrics and Gynaecology, Centro Hospitalar do Tâmega e Sousa, Penafiel, Porto, Portugal
| | - Maria Coelho
- Department of Obstetrics and Gynaecology, Centro Hospitalar do Tâmega e Sousa, Penafiel, Porto, Portugal
| | - Juliana Rocha
- Department of Obstetrics and Gynaecology, Centro Hospitalar do Tâmega e Sousa, Penafiel, Porto, Portugal
| | - Carla Marinho
- Department of Obstetrics and Gynaecology, Centro Hospitalar do Tâmega e Sousa, Penafiel, Porto, Portugal
| | - Graça Rodrigues
- Department of Obstetrics and Gynaecology, Centro Hospitalar do Tâmega e Sousa, Penafiel, Porto, Portugal
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Abstract
RATIONALE Micrognathia is a subtle facial malformation characterized by a small mandible and receding chin. Fetal micrognathia is often associated with chromosomal abnormalities, skeletal dysplasia, and various syndromes. Once it is dignosised, detailed fetal malformation screening and chromosome examination should be carried out. PATIENT CONCERN One pregnant woman with suspicion of fetal micrognathia was referred from her local hospital to our hospital for detailed fetal malformation screening and fetal echocardiography. Examination of the fetus was performed using a two-dimensional and three-dimensional ultrasound probe in multiple planes. The fetus showed micrognathia without glossoptosis with features of the inferior facial angle (IFA) ≤50° and his tongue reached anterior mandibular border box during normal movement. DIAGNOSES The fetus was diagnosed as isolated micrognathia prenatally without multisystem abnormalities. INTERVENTIONS Amniocentesis was performed and the fetus was found to carry 46XN with 6q14.1 duplication, the significance of which was unclear. OUTCOMES The fetus was labored through vagina at 38 weeks gestation. A small soft cleft palate was diagnosed after delivery. LESSONS This case suggests that once prenatal diagnosis of the fetal micrognathia has been made, we should carefully examine the presence of fetus's multisystem developmental abnormalities and due consideration should be given for associated soft cleft palate.
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Nguyen JQN, Calabrese CE, Heaphy KJ, Koudstaal MJ, Estroff JA, Resnick CM. Can Robin Sequence Be Predicted From Prenatal Ultrasonography? J Oral Maxillofac Surg 2019; 78:612-618. [PMID: 31758942 DOI: 10.1016/j.joms.2019.10.015] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/18/2019] [Revised: 09/24/2019] [Accepted: 10/15/2019] [Indexed: 11/17/2022]
Abstract
PURPOSE Prenatal diagnosis of Robin sequence (RS) could promote safe delivery and improve perinatal care. The purpose of this study was to evaluate the correlation between prenatal ultrasonography (US) and magnetic resonance imaging (MRI) studies for assessing micrognathia to determine if US alone can be used to reliably screen for RS. MATERIALS AND METHODS This was a retrospective case-control study of fetuses evaluated in the Advanced Fetal Care Center at Boston Children's Hospital from 2002 to 2017. To be included, 1) prenatal MRI and US must have been performed during the same visit, 2) the infant must have been live-born, and 3) the diagnosis must have been confirmed postnatally. Patients with images of inadequate quality for analysis were excluded. Patients were divided into 4 groups based on postnatal diagnosis: 1) RS (micrognathia, glossoptosis, and airway obstruction) (RS group), 2) micrognathia without RS (micrognathia group), 3) cleft lip and palate (CLP) without micrognathia (CLP group), and 4) gestational age-matched controls with normal craniofacial morphology (control group). The inferior facial angle (IFA) was measured using both imaging modalities and compared. Receiver operating characteristic curves were applied to identify a threshold for the diagnosis of RS from US. The sensitivity, specificity, positive predictive value, negative predictive value, and odds ratio were calculated. RESULTS A total of 94 patients were included (mean gestational age at imaging, 24.9 ± 5.2 weeks), with 25 in the RS group (26.6%), 29 in the micrognathia group (30.9%), 23 in the CLP group (24.5%), and 17 in the control group (18.1%). The IFA was significantly smaller in the RS group than in all other groups on both US and MRI (P < .001). A moderate correlation was found between IFA measurements on US and MRI (intraclass correlation coefficient, 0.729). An IFA threshold on US of 45.5° maximized sensitivity (84%) and specificity (81%) for the diagnosis of RS. CONCLUSIONS We suggest incorporating the IFA into routine prenatal US and referring patients for confirmatory MRI when the US IFA is lower than 45.5°.
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Affiliation(s)
| | - Carly E Calabrese
- Clinical Research Specialist, Department of Plastic and Oral Surgery, Boston Children's Hospital, Boston, MA
| | - Kathryn J Heaphy
- Pediatric Radiology Fellow, Department of Radiology, Boston Children's Hospital, Boston, MA
| | - Maarten J Koudstaal
- Assistant Professor of Oral and Maxillofacial Surgery, Erasmus University Medical Center, Rotterdam, The Netherlands; and Research Associate, Harvard School of Dental Medicine and Harvard Medical School, Boston, MA
| | - Judy A Estroff
- Associate Professor of Radiology, Harvard Medical School, Boston, MA; and Director of Fetal-Neonatal Imaging, Department of Radiology, Advanced Fetal Care Center, Boston Children's Hospital, Boston, MA
| | - Cory M Resnick
- Assistant Professor of Oral and Maxillofacial Surgery, Harvard School of Dental Medicine and Harvard Medical School, Boston, MA; and Oral and Maxillofacial Surgeon, Department of Plastic and Oral Surgery, Boston Children's Hospital, Boston, MA.
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Mouthon L, Busa T, Bretelle F, Karmous-Benailly H, Missirian C, Philip N, Sigaudy S. Prenatal diagnosis of micrognathia in 41 fetuses: Retrospective analysis of outcome and genetic etiologies. Am J Med Genet A 2019; 179:2365-2373. [PMID: 31509347 DOI: 10.1002/ajmg.a.61359] [Citation(s) in RCA: 20] [Impact Index Per Article: 3.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/26/2019] [Revised: 08/20/2019] [Accepted: 08/23/2019] [Indexed: 12/20/2022]
Abstract
Fetal micrognathia can be detected early in pregnancy. Prognosis of micrognathia depends on the risk of respiratory distress at birth and on the long-term risk of intellectual disability. The purpose of this study was to evaluate the long-term prognosis of fetuses with prenatal diagnosis of micrognathia by estimating the prevalence and the severity of confirmed genetic diagnosis in our cohort. Our retrospective study included 41 fetuses with prenatal diagnosis of micrognathia referred to the multidisciplinary centers for prenatal diagnosis in Nice and Marseille, France, between 2006 and 2016. Fetal micrognathia was associated with cleft palate in 27 cases. A genetic cause was confirmed in 21 cases (67%). A chromosomal abnormality was present in 12 cases, including three copy-number variations diagnosed by array CGH. Monogenic disorders were identified in nine cases, most often after birth. Fetuses with family history of micrognathia or Pierre Robin sequence had a favorable outcome. Prognosis was good for the fetuses without associated findings and normal chromosomal analysis, with the exception of one case with a postnatal diagnosis of mandibulofacial dysostosis with microcephaly. Prognostic was poor for the fetuses with additional ultrasound anomalies, as only 5 out of 28 children had a good outcome. Prenatal diagnosis of micrognathia is an indicator of a possible fetal pathology justifying multidisciplinary management. Our study confirms the necessity of performing prenatal array CGH. Use of high-throughput gene sequencing in prenatal period could improve diagnostic performance, prenatal counseling, and adequate postnatal care.
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Affiliation(s)
- Linda Mouthon
- GH La Pitié Salpêtrière-Charles Foix, Medical Genetics, Paris, France
| | - Tiffany Busa
- Hôpital de la Timone, Medical Genetics, Marseille, Provence-Alpes-Côte d'Azur, France
| | - Florence Bretelle
- Hôpital de la Timone, Prenatal diagnosis, Marseille, Provence-Alpes-Côte d'Azur, France
| | | | - Chantal Missirian
- Hôpital de la Timone, Cytogenetics, Marseille, Provence-Alpes-Côte d'Azur, France
| | - Nicole Philip
- Hôpital de la Timone, Medical Genetics, Marseille, Provence-Alpes-Côte d'Azur, France.,Hôpital de la Timone, Prenatal diagnosis, Marseille, Provence-Alpes-Côte d'Azur, France
| | - Sabine Sigaudy
- Hôpital de la Timone, Medical Genetics, Marseille, Provence-Alpes-Côte d'Azur, France.,Hôpital de la Timone, Prenatal diagnosis, Marseille, Provence-Alpes-Côte d'Azur, France
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26
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Salazar Trujillo A, Rincón-Guio C, López Narváez L, Cáceres J, Charry JD. First trimester sonographic diagnosis of orofacial defects. Review of literature. J Matern Fetal Neonatal Med 2019; 33:3200-3206. [PMID: 30688130 DOI: 10.1080/14767058.2019.1570114] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/28/2022]
Abstract
Ultrasound has been used since the 1950s as a useful tool for the screening of several pregnancy abnormalities. The National Institute for Excellence in Health and Care (NICE) guidelines for prenatal control recommend its routine use between 12 and 20 weeks of gestational age, given that during the first trimester, a series of very frequent markers that determine a high risk of fetal anomalies can be evaluated. Among these markers, the most frequently studied are: increased nuchal translucency, the absence of nasal bones, increased tricuspid regurgitation, and altered flow in the venous duct. There is also a new ultrasound technique consisting of the evaluation of the retronasal triangle view, which captures the coronal plane of the face in which the primary palate and the frontal process of the maxillary are simultaneously visualized, presenting high sensitivity and specificity for malformations such as oropalatine clefts, malformations of the nasal bones, and micrognathia. The purpose of this article is to make a comprehensive review of first trimester sonographic diagnosis of orofacial defects.
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Affiliation(s)
| | - Cristian Rincón-Guio
- Research Department, Fundación Universitaria Navarra - UNINAVARRA, Neiva, Colombia
| | | | - Juan Cáceres
- Research Department, Clínica Medilaser, Neiva, Colombia
| | - José D Charry
- Research Department, Fundación Universitaria Navarra - UNINAVARRA, Neiva, Colombia
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27
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Lu J, Sahota DS, Poon LC, Ting YH, Cheng YKY, Wang Y, Leung TY. Objective assessment of the fetal facial profile at second and third trimester of pregnancy. Prenat Diagn 2018; 39:107-115. [PMID: 30328631 DOI: 10.1002/pd.5371] [Citation(s) in RCA: 14] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/30/2018] [Revised: 10/04/2018] [Accepted: 10/04/2018] [Indexed: 11/10/2022]
Abstract
OBJECTIVE To investigate the intraobserver and interobserver reproducibility of a novel sonographic parameter named facial maxillary angle (FMA) and to establish nomograms of FMA, inferior facial angle (IFA), frontal nasal-mental angle (FNMA), maxilla-nasion-mandible angle (MNMA), and fetal profile line (FPL) in Chinese fetuses. METHODS In this prospective cross-sectional study, FMA, IFA, FNMA, MNMA, and FPL were measured in 592 normal fetuses between 16 and 36 gestational weeks. FMA was measured twice by the same and another operator with a blinded method on the first 50 cases. The reference interval was defined as ±2SD. The efficacy of five sonographic markers was tested in 10 fetuses with micrognathia retrieved from the database of our unit. RESULTS The intraclass correlation coefficient (95% CI) of intraobserver and interobserver reproducibility of FMA was 0.937 (0.890-0.964) and 0.891 (0.809-0.938), respectively. FMA, FNMA, and IFA increased slightly from 16 weeks till 28-31 weeks and decreased minimally thereafter. FMA and FNMA made correct diagnosis in all affected fetuses; MNMA and IFA identified nine and eight cases respectively, and FPL only detected five cases. CONCLUSION A fixed cutoff of 66° for FMA and 136° for FNMA may be adopted as simple screening criteria of micrognathia.
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Affiliation(s)
- Jing Lu
- Department of Obstetrics and Gynaecology, Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong
| | - Daljit Singh Sahota
- Department of Obstetrics and Gynaecology, Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong
| | - Liona C Poon
- Department of Obstetrics and Gynaecology, Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong
| | - Yuen Ha Ting
- Department of Obstetrics and Gynaecology, Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong
| | - Yvonne Kwun Yue Cheng
- Department of Obstetrics and Gynaecology, Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong
| | - Yue Wang
- Department of Ultrasound, Peking University Shen Zhen hospital, Shen Zhen, China
| | - Tak Yeung Leung
- Department of Obstetrics and Gynaecology, Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong
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Resnick CM, Kooiman TD, Calabrese CE, Zurakowski D, Padwa BL, Koudstaal MJ, Estroff JA. An algorithm for predicting Robin sequence from fetal MRI. Prenat Diagn 2018; 38:357-364. [DOI: 10.1002/pd.5239] [Citation(s) in RCA: 15] [Impact Index Per Article: 2.1] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/15/2017] [Revised: 02/09/2018] [Accepted: 02/13/2018] [Indexed: 12/18/2022]
Affiliation(s)
- Cory M. Resnick
- Oral and Maxillofacial Surgery; Harvard School of Dental Medicine and Harvard Medical School; Boston MA USA
- Oral and Maxillofacial Surgeon; Department of Plastic and Oral Surgery, Boston Children's Hospital; Boston MA USA
| | | | - Carly E. Calabrese
- Department of Plastic and Oral Surgery; Boston Children's Hospital; Boston MA USA
| | - David Zurakowski
- Departments of Anesthesia and Surgery; Boston Children's Hospital, Harvard Medical School; Boston MA USA
| | - Bonnie L. Padwa
- Oral and Maxillofacial Surgery; Harvard School of Dental Medicine and Harvard Medical School; Boston MA USA
- Oral and Maxillofacial Surgeon; Department of Plastic and Oral Surgery, Boston Children's Hospital; Boston MA USA
| | - Maarten J. Koudstaal
- Department of Oral and Maxillofacial Surgery; Erasmus Medical Center; Rotterdam The Netherlands
| | - Judy A. Estroff
- Harvard Medical School; Boston MA USA
- Fetal-Neonatal Imaging, Department of Radiology, Advanced Fetal Care Center; Boston Children's Hospital; Boston MA USA
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Resnick CM, Kooiman TD, Calabrese CE, Didier R, Padwa BL, Estroff JA, Koudstaal MJ. In Utero Glossoptosis in Fetuses With Robin Sequence. Cleft Palate Craniofac J 2017; 55:562-567. [DOI: 10.1177/1055665617746795] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/01/2023] Open
Abstract
Objective: Glossoptosis causes airway obstruction in patients with Robin sequence (RS), but little is known about the in-utero tongue. The purpose of this study was to assess shape and position of the fetal tongue on prenatal magnetic resonance imaging (MRI) to determine if this is predictive of postnatal RS. Design: Retrospective case-control study including fetuses with prenatal MRIs performed from 2002 to 2017. Inclusion criteria were (1) prenatal MRI of adequate quality, (2) live born and evaluated postnatally for craniofacial findings. Subjects were divided into groups based on postnatal findings: (1) RS, (2) micrognathia without RS, and (3) a gestational-age-matched control group with normal craniofacial morphology. Outcome variables were based on the prenatal MRI and included fetal tongue height, length, and width, tongue shape index (TSI, ratio of height to length), and observation of tongue touching the posterior pharyngeal wall. Results: A total of 116 subjects with mean gestational age at MRI of 25.6 ± 5.1 weeks were included: RS, n = 27 (23%); micrognathia, n = 35 (30%); control, n = 54 (47%). Tongue length was significantly shorter ( P = .009) and TSI was significantly larger in the RS group ( P < .0001). The tongue touched the posterior pharyngeal wall in 5 (19%) of the RS group and in no subjects in the other groups ( P < .0001). Conclusion: In utero tongue shape and position were significantly different in fetuses with postnatal RS compared to those with isolated micrognathia and controls. Prenatal MRI tongue characteristics may be predictors for postnatal RS.
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Affiliation(s)
- Cory M. Resnick
- Harvard School of Dental Medicine, Harvard Medical School, Boston, MA, USA
- Department of Plastic and Oral Surgery, Boston Children’s Hospital, Boston, MA, USA
| | | | - Carly E. Calabrese
- Department of Plastic and Oral Surgery, Boston Children’s Hospital, Boston, MA, USA
| | - Ryne Didier
- Harvard Medical School, Boston, MA, USA
- Fetal-Neonatal Imaging, Department of Radiology, Advanced Fetal Care Center, Boston Children’s Hospital, Boston, MA, USA
| | - Bonnie L. Padwa
- Harvard School of Dental Medicine, Harvard Medical School, Boston, MA, USA
- Department of Plastic and Oral Surgery, Boston Children’s Hospital, Boston, MA, USA
| | - Judy A. Estroff
- Harvard Medical School, Boston, MA, USA
- Fetal-Neonatal Imaging, Department of Radiology, Advanced Fetal Care Center, Boston Children’s Hospital, Boston, MA, USA
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Qiu R, MacKinlay K, Suen M, McLennan A. Construction of fetal inferior facial angle and hemi-mandible length reference ranges at 18-21 weeks’ gestation in an Australian population. Australas J Ultrasound Med 2017; 20:168-173. [DOI: 10.1002/ajum.12066] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/08/2022] Open
Affiliation(s)
- Robert Qiu
- Faculty of Medicine; The University of Sydney; Sydney New South Wales 2006 Australia
| | - Katie MacKinlay
- Sydney Ultrasound for Women; Chatswood New South Wales 2067 Australia
| | - Melissa Suen
- Sydney Ultrasound for Women; Chatswood New South Wales 2067 Australia
| | - Andrew McLennan
- Faculty of Medicine; The University of Sydney; Sydney New South Wales 2006 Australia
- Sydney Ultrasound for Women; Chatswood New South Wales 2067 Australia
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Di Pasquo E, Amiel J, Roth P, Malan V, Lind K, Chalouhi C, Soupre V, Gordon CT, Lyonnet S, Salomon LJ, Abadie V. Efficiency of prenatal diagnosis in Pierre Robin sequence. Prenat Diagn 2017; 37:1169-1175. [DOI: 10.1002/pd.5162] [Citation(s) in RCA: 15] [Impact Index Per Article: 1.9] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/30/2017] [Revised: 09/13/2017] [Accepted: 09/19/2017] [Indexed: 01/26/2023]
Affiliation(s)
- Elvira Di Pasquo
- Gynecology and Obstetrics Unit, Prenatal Diagnosis Centre; Necker Hospital; Paris France
| | - Jeanne Amiel
- Laboratory of Embryology and Genetics of Congenital Malformations; Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine; Paris France
- Paris Descartes-Sorbonne Paris Cité University; Paris France
| | - Philippe Roth
- Gynecology and Obstetrics Unit, Prenatal Diagnosis Centre; Necker Hospital; Paris France
| | - Valérie Malan
- Cytogenetics Laboratory; Necker Hospital; Paris France
| | - Katia Lind
- General Pediatrics Department and Rare Disease Reference Centre “Syndrome de Pierre Robin et Troubles de Succion Déglutition Congénitaux”; Necker Hospital; Paris France
| | - Christel Chalouhi
- General Pediatrics Department and Rare Disease Reference Centre “Syndrome de Pierre Robin et Troubles de Succion Déglutition Congénitaux”; Necker Hospital; Paris France
| | | | - Christopher T. Gordon
- Laboratory of Embryology and Genetics of Congenital Malformations; Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine; Paris France
- Paris Descartes-Sorbonne Paris Cité University; Paris France
| | - Stanislas Lyonnet
- Laboratory of Embryology and Genetics of Congenital Malformations; Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine; Paris France
- Paris Descartes-Sorbonne Paris Cité University; Paris France
| | - Laurent J. Salomon
- Gynecology and Obstetrics Unit, Prenatal Diagnosis Centre; Necker Hospital; Paris France
- Paris Descartes-Sorbonne Paris Cité University; Paris France
| | - Véronique Abadie
- Paris Descartes-Sorbonne Paris Cité University; Paris France
- General Pediatrics Department and Rare Disease Reference Centre “Syndrome de Pierre Robin et Troubles de Succion Déglutition Congénitaux”; Necker Hospital; Paris France
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Thellier E, Levaillant JM, Roume J, Quarello E, Bault JP. Cornelia de Lange syndrome: specific features for prenatal diagnosis. ULTRASOUND IN OBSTETRICS & GYNECOLOGY : THE OFFICIAL JOURNAL OF THE INTERNATIONAL SOCIETY OF ULTRASOUND IN OBSTETRICS AND GYNECOLOGY 2017; 49:668-670. [PMID: 26480950 DOI: 10.1002/uog.15788] [Citation(s) in RCA: 10] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Indexed: 06/05/2023]
Affiliation(s)
- E Thellier
- Centre Hospitalier Intercommunal de Poissy, St Germain, Poissy, France
- CHU Bicêtre, Paris, France
| | - J M Levaillant
- Centre Hospitalier Intercommunal de Poissy, St Germain, Poissy, France
- CHU Bicêtre, Paris, France
| | - J Roume
- Centre Hospitalier Intercommunal de Poissy, St Germain, Poissy, France
| | - E Quarello
- Unité d'Échographies Obstétricales, Service de Gynécologie Obstétrique, Pôle Parents Enfants, Hôpital Saint-Joseph, Marseille, France
| | - J P Bault
- Centre Hospitalier Intercommunal de Poissy, St Germain, Poissy, France
- CHU Bicêtre, Paris, France
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Prenatal Features Predictive of Robin Sequence Identified by Fetal Magnetic Resonance Imaging. Plast Reconstr Surg 2017; 137:999e-1006e. [PMID: 27219269 DOI: 10.1097/prs.0000000000002193] [Citation(s) in RCA: 15] [Impact Index Per Article: 1.9] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/25/2022]
Abstract
BACKGROUND Prenatal magnetic resonance imaging is increasingly used to detect congenital anomalies. The purpose of this study was to determine whether prenatal magnetic resonance imaging accurately characterizes features predictive of postnatal Robin sequence so that possible airway compromise and feeding difficulty at birth can be anticipated. METHODS The authors retrospectively identified pregnant women who underwent fetal magnetic resonance imaging between 2002 and 2014 and were found to be carrying a fetus with micrognathia. Micrognathia was subjectively categorized as minor, moderate, or severe. Pregnancy outcome was determined as follows: intrauterine fetal demise, elective termination, early neonatal death, or viable infant. Postnatal findings of micrognathia, Robin sequence, and associated anomalies were compared to prenatal findings. RESULTS Micrognathia was identified in 123 fetuses. Fifty-two pregnancies (42.3 percent) produced a viable infant. The remainder resulted in termination in the fetal period or death shortly after birth resulting from unrelated causes. For infants who lived, prenatal micrognathia was categorized as minor (55.1 percent), moderate (30.6 percent), or severe (14.3 percent). Forty-two percent of neonates with minor prenatal micrognathia had postnatal micrognathia; however, only 11.1 percent had Robin sequence. All neonates with moderate fetal micrognathia had postnatal micrognathia, and the majority had Robin sequence (86.7 percent). All newborns with severe micrognathia had Robin sequence and all prenatally diagnosed with glossoptosis had Robin sequence. CONCLUSIONS Prenatal findings of moderate or severe micrognathia or glossoptosis are predictive of postnatal Robin sequence, thus expediting appropriate perinatal management of airway and feeding problems. CLINICAL QUESTION/LEVEL OF EVIDENCE Diagnostic, IV.
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Lind K, Aubry MC, Belarbi N, Chalouhi C, Couly G, Benachi A, Lyonnet S, Abadie V. Prenatal diagnosis of Pierre Robin Sequence: accuracy and ability to predict phenotype and functional severity. Prenat Diagn 2015; 35:853-8. [DOI: 10.1002/pd.4619] [Citation(s) in RCA: 17] [Impact Index Per Article: 1.7] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/26/2014] [Revised: 05/01/2015] [Accepted: 05/08/2015] [Indexed: 12/21/2022]
Affiliation(s)
- Katia Lind
- General Pediatrics Department and Reference Center for Rare Diseases ‘Syndromes de Pierre Robin et troubles de succion-déglutition congénitaux’; Necker Hospital; Paris France
- Paris Descartes University; Paris France
| | - Marie-Cécile Aubry
- Obstetrics and Gynecology Department; Antoine Béclère Hospital; Clamart France
| | - Nadia Belarbi
- Department of Paediatric Imaging; Robert Debré Hospital; Paris France
| | - Christel Chalouhi
- General Pediatrics Department and Reference Center for Rare Diseases ‘Syndromes de Pierre Robin et troubles de succion-déglutition congénitaux’; Necker Hospital; Paris France
| | - Gérard Couly
- Paris Descartes University; Paris France
- Maxillo-facial Surgery Unit; Necker Hospital; Paris France
| | - Alexandra Benachi
- Obstetrics and Gynecology Department; Antoine Béclère Hospital; Clamart France
- Université Paris Sud; Clamart France
| | - Stanislas Lyonnet
- Paris Descartes University; Paris France
- Genetics Department; Necker Hospital; Paris France
| | - Véronique Abadie
- General Pediatrics Department and Reference Center for Rare Diseases ‘Syndromes de Pierre Robin et troubles de succion-déglutition congénitaux’; Necker Hospital; Paris France
- Paris Descartes University; Paris France
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Kaufman MG, Cassady CI, Hyman CH, Lee W, Watcha MF, Hippard HK, Olutoye OA, Khechoyan DY, Monson LA, Buchanan EP. Prenatal Identification of Pierre Robin Sequence: A Review of the Literature and Look towards the Future. Fetal Diagn Ther 2015; 39:81-9. [PMID: 25967128 DOI: 10.1159/000380948] [Citation(s) in RCA: 37] [Impact Index Per Article: 3.7] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/21/2014] [Accepted: 02/13/2015] [Indexed: 11/19/2022]
Abstract
Fetal ultrasonography is an important tool used to prenatally diagnose many craniofacial conditions. Pierre Robin sequence (PRS) is a rare congenital deformation characterized by micrognathia, glossoptosis, and airway obstruction. PRS can present as a perinatal emergency when the retropositioned tongue obstructs the airway leading to respiratory compromise. More predictable and reliable diagnostic studies could help the treating medical team as well as families prepare for these early airway emergencies. The medical literature was reviewed for different techniques used to prenatally diagnose PRS radiologically. We have reviewed these techniques and suggested a possible diagnostic pathway to consistently identify patients with PRS prenatally.
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Affiliation(s)
- Matthew G Kaufman
- Division of Plastic Surgery, Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, Tex., USA
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Nemec U, Nemec SF, Brugger PC, Weber M, Bartsch B, Bettelheim D, Gruber M, Prayer D. Normal mandibular growth and diagnosis of micrognathia at prenatal MRI. Prenat Diagn 2015; 35:108-16. [PMID: 25224124 DOI: 10.1002/pd.4496] [Citation(s) in RCA: 36] [Impact Index Per Article: 3.6] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/11/2014] [Revised: 08/01/2014] [Accepted: 09/06/2014] [Indexed: 02/03/2023]
Abstract
OBJECTIVE The aim of this article is to present reference data for fetal mandibular growth on magnetic resonance imaging, enabling the diagnosis of micrognathia. METHODS Retrospectively, on 355 magnetic resonance scans of apparently facially normal fetuses [gestational age (GA), 20-36 weeks], mandibular anterior-posterior diameter (APD = mandibular size), inferior facial angle (IFA = mandibular position), and jaw index (APD normalized to biparietal diameter) were correlated with GA by Pearson correlation. APD-age relationship was modeled. A receding chin was subjectively determined. Ten fetuses with mandibular anomalies were compared with normal fetuses. RESULTS For GA, APD showed high correlation (r = 0.850; P < 0.001), IFA (r = 0.086; P = 0.119) no correlation, and jaw index (r = -0.139; P = 0.018) weak correlation. APD-age relationship was expressed by the following: APD = 0.281 + 0.989 * GA (r(2) = 0.723). A receding chin was identified in 7/10 abnormal fetuses. APD, IFA, and jaw index of abnormal and normal fetuses were significantly different (P < 0.001). In 10/10 abnormal fetuses, IFA was <50.0°; in 7/10, jaw index was less than the fifth percentile (micrognathia); in 3/10, jaw index was at low normal range (retrognathia). CONCLUSIONS Subjective identification of micrognathia may be limited. Reference data provide quantitative evaluation of mandibular size and position. An IFA <50° reflects micrognathia or retrognathia; a jaw index less than the fifth percentile suggests micrognathia.
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Affiliation(s)
- Ursula Nemec
- Department of Biomedical Imaging and Image-guided Therapy, Division of Neuroradiology and Musculoskeletal Radiology, Medical University of Vienna, Vienna, Austria
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Prenatal indices for mandibular retrognathia/micrognathia. J Orofac Orthop 2015; 76:30-40. [DOI: 10.1007/s00056-014-0257-1] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/28/2013] [Accepted: 01/16/2014] [Indexed: 10/24/2022]
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Polysomnographic results of prone versus supine positioning in micrognathia. Int J Pediatr Otorhinolaryngol 2014; 78:2056-9. [PMID: 25282304 DOI: 10.1016/j.ijporl.2014.08.042] [Citation(s) in RCA: 9] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 04/21/2014] [Revised: 08/29/2014] [Accepted: 08/30/2014] [Indexed: 11/20/2022]
Abstract
BACKGROUND Children with micrognathia commonly present with upper airway symptoms and are at risk for developing obstructive sleep apnea (OSA). Prone positioning is widely used as first-line management for micrognathic children with obstructive symptoms. The aim of the present study was to document the effect of positioning on oxygenation and upper airway obstruction as measured by polysomnography (PSG). METHODS Three children with micrognathia from two institutions underwent PSG in both the prone and supine position. RESULTS Patient ages were 1 week, 3 months, and 7 months. Supine obstructive apnea-hypopnea indices (oAHI) were severe for all 3 children, with a mean of 21.9 events/hour (range 16.8 to 26.3). In the prone position, the oAHI significantly improved in 2 of 3 children, with a mean of 5.1 events/hour (range 0.3 to 10.3). The frequency of central apnea events increased in 1 child following supine positioning. Nadir oxygen saturation improved in 2 of 3 children and remained within normal limits in the third. CONCLUSIONS This is the first report of the effect of positioning on changes in PSG indices of micrognathic children. Improvement in obstructive PSG indices occurred with prone positioning, though OSA persisted in 2 of 3 children. The effect of positioning on central apnea was unclear. In light of these findings, we recommend that routine PSG be considered in micrognathic children undergoing prone positioning for definitive therapy of upper airway obstruction.
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Suenaga M, Hidaka N, Kido S, Otera Y, Fukushima K, Kato K. Successful ex utero
intrapartum treatment procedure for prenatally diagnosed severe micrognathia: A case report. J Obstet Gynaecol Res 2014; 40:2005-9. [DOI: 10.1111/jog.12423] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/01/2014] [Accepted: 02/17/2014] [Indexed: 11/30/2022]
Affiliation(s)
- Masanori Suenaga
- Department of Obstetrics and Gynecology; Graduate School of Medical Sciences; Kyushu University; Fukuoka Japan
| | - Nobuhiro Hidaka
- Department of Obstetrics and Gynecology; Graduate School of Medical Sciences; Kyushu University; Fukuoka Japan
| | - Saki Kido
- Department of Obstetrics and Gynecology; Graduate School of Medical Sciences; Kyushu University; Fukuoka Japan
| | - Yuka Otera
- Department of Obstetrics and Gynecology; Graduate School of Medical Sciences; Kyushu University; Fukuoka Japan
| | - Kotaro Fukushima
- Department of Obstetrics and Gynecology; Graduate School of Medical Sciences; Kyushu University; Fukuoka Japan
| | - Kiyoko Kato
- Department of Obstetrics and Gynecology; Graduate School of Medical Sciences; Kyushu University; Fukuoka Japan
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Abstract
Introduction: The second trimester ultrasound remains an important screening tool for detecting fetal abnormalities. This pictorial guide for the second trimester ultrasound is designed to assist practitioners to produce a high quality diagnostic survey of the fetus by demonstrating and describing recommended images. Methods: Each image is discussed in detail and has an associated drawn line diagram to aid in the identification of the important features of that image. There is a description of the salient landmarks and relevant measurements. Result: The authors hope this article may act as a useful guide to all practitioners performing second trimester ultrasounds.
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Affiliation(s)
- Michael Bethune
- Medical Imaging DepartmentThe Mercy Hospital for WomenMelbourneVictoriaAustralia; Specialist Women's Ultrasound Box HillMelbourneVictoriaAustralia
| | - Ekaterina Alibrahim
- Medical Imaging Department The Mercy Hospital for Women Melbourne Victoria Australia
| | - Braidy Davies
- Medical Imaging Department The Mercy Hospital for Women Melbourne Victoria Australia
| | - Eric Yong
- Medical Imaging Department The Mercy Hospital for Women Melbourne Victoria Australia
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MacArthur CJ. Prenatal diagnosis of fetal cervicofacial anomalies. Curr Opin Otolaryngol Head Neck Surg 2012; 20:482-90. [DOI: 10.1097/moo.0b013e3283582e21] [Citation(s) in RCA: 13] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/25/2022]
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Nemec SF, Nemec U, Brugger PC, Bettelheim D, Rotmensch S, Graham JM, Rimoin DL, Prayer D. MR imaging of the fetal musculoskeletal system. Prenat Diagn 2012; 32:205-13. [DOI: 10.1002/pd.2914] [Citation(s) in RCA: 20] [Impact Index Per Article: 1.5] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/23/2023]
Affiliation(s)
- Stefan Franz Nemec
- Medical University Vienna; Department of Radiology, Division of Neuroradiology and Musculoskeletal Radiology; Waehringer Guertel 18-20 Vienna A-1090 Austria
- Cedars Sinai Medical Center; Medical Genetics Institute, 8700 Beverly Boulevard, PACT Suite 400; 8700 Beverly Boulevard, PACT Suite 400 Los Angeles CA, 90048 90048 USA
| | - Ursula Nemec
- Medical University Vienna; Department of Radiology, Division of Neuroradiology and Musculoskeletal Radiology; Waehringer Guertel 18-20 Vienna A-1090 Austria
| | - Peter C. Brugger
- Medical University Vienna; Center of Anatomy and Cell Biology, Integrative Morphology Group; Vienna Austria
| | - Dieter Bettelheim
- Medical University Vienna; Department of Obstetrics and Gynaecology, Division of Prenatal Diagnosis and Therapy; Vienna Austria
| | - Siegfried Rotmensch
- Cedars Sinai Medical Center; Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine; Los Angeles CA USA
| | - John M. Graham
- Cedars Sinai Medical Center; Medical Genetics Institute, 8700 Beverly Boulevard, PACT Suite 400; 8700 Beverly Boulevard, PACT Suite 400 Los Angeles CA, 90048 90048 USA
| | - David L. Rimoin
- Cedars Sinai Medical Center; Medical Genetics Institute, 8700 Beverly Boulevard, PACT Suite 400; 8700 Beverly Boulevard, PACT Suite 400 Los Angeles CA, 90048 90048 USA
| | - Daniela Prayer
- Medical University Vienna; Department of Radiology, Division of Neuroradiology and Musculoskeletal Radiology; Waehringer Guertel 18-20 Vienna A-1090 Austria
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Sepulveda W, Wong AE, Viñals F, Andreeva E, Adzehova N, Martinez-Ten P. Absent mandibular gap in the retronasal triangle view: a clue to the diagnosis of micrognathia in the first trimester. ULTRASOUND IN OBSTETRICS & GYNECOLOGY : THE OFFICIAL JOURNAL OF THE INTERNATIONAL SOCIETY OF ULTRASOUND IN OBSTETRICS AND GYNECOLOGY 2012; 39:152-156. [PMID: 22009662 DOI: 10.1002/uog.10121] [Citation(s) in RCA: 15] [Impact Index Per Article: 1.2] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Accepted: 10/05/2011] [Indexed: 05/31/2023]
Abstract
OBJECTIVE To describe a new ultrasound technique that may be useful for the diagnosis of micrognathia in the first trimester of pregnancy. METHODS The retronasal triangle (RNT) view is a technique that captures the coronal plane of the face in which the primary palate and the frontal processes of the maxilla are visualized simultaneously. Normal first-trimester fetuses display a characteristic gap between the right and left body of the mandible in this view (the 'mandibular gap'). The presence or absence of this gap was evaluated and measured prospectively during real-time scanning (n = 154) and retrospectively by analyzing three-dimensional (3D) datasets (n = 50) in normal first-trimester fetuses undergoing screening for aneuploidy at 11-13 weeks' gestation. 3D datasets from 12 fetuses with suspected micrognathia were also collected and examined retrospectively for the same features. RESULTS The mandibular gap was identified in all 204 normal fetuses and increased linearly with increasing crown-rump length (y = 0.033x + 0.435; R(2) = 0.316), with no statistically significant differences between measurements obtained by two-dimensional ultrasound and 3D offline analysis. Among fetuses with suspected micrognathia, three 3D datasets were excluded from analysis because of poor image quality in one and the diagnosis of a normal chin in two. In the remaining nine fetuses, the mandibular gap was absent and was replaced by a bony structure representing the receding chin in seven (77.8%) cases and was not visualized due to severe retrognathia in the remaining two (22.2%) cases. All fetuses with micrognathia had associated anomalies, including seven with aneuploidy and two with skeletal dysplasia. CONCLUSIONS The RNT view may be a helpful technique for detecting micrognathia in the first trimester. The absence of the mandibular gap or failure to identify the mandible in this view is highly suggestive of micrognathia and should prompt a targeted ultrasound scan to assess for other anomalies. Further research is needed to determine the false-positive and false-negative rates of this technique.
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Affiliation(s)
- W Sepulveda
- Fetal Medicine Center, Department of Obstetrics and Gynecology, Clinica Las Condes, Santiago, Chile
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Estroff JA. Imaging clues in the prenatal diagnosis of syndromes and aneuploidy. Pediatr Radiol 2012; 42 Suppl 1:S5-23. [PMID: 22395717 DOI: 10.1007/s00247-011-2264-3] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 09/01/2011] [Revised: 09/07/2011] [Accepted: 09/13/2011] [Indexed: 10/28/2022]
Abstract
Advances in fetal sonography and MRI have increased both the range and diagnostic accuracy of detectable fetal anomalies, with many anomalies detectable earlier in pregnancy. The presence of structural anomalies greatly raises the risk that the fetus has a syndrome or abnormal karyotype. In addition, new techniques in maternal serum screening have greatly increased the ability to identify pregnant patients at risk for anomalies and syndromes. This paper reviews maternal first- and second-trimester serum screening and imaging and covers many of the most common fetal karyotypic and structural anomalies.
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Affiliation(s)
- Judy A Estroff
- Fetal-Neonatal Radiology, Harvard Medical School, Boston, MA, USA.
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