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Lamanna B, Dellino M, Cascardi E, Rooke-Ley M, Vinciguerra M, Cazzato G, Malvasi A, Vitagliano A, Nicolì P, Di Cosola M, Ballini A, Cicinelli E, Vimercati A. Efficacy of Systematic Early-Second-Trimester Ultrasound Screening for Facial Anomalies: A Comparison between Prenatal Ultrasound and Postmortem Findings. J Clin Med 2023; 12:5365. [PMID: 37629409 PMCID: PMC10455370 DOI: 10.3390/jcm12165365] [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: 07/05/2023] [Revised: 08/01/2023] [Accepted: 08/15/2023] [Indexed: 08/27/2023] Open
Abstract
Second-trimester 2D ultrasound (US) assessment of the fetal anatomy, as proposed by worldwide guidelines, allows detecting the majority of fetal malformation. However, the detection rates of fetal facial anomalies seem to still be low, mostly in cases of isolated facial malformation. The purpose of this research was to assess and analyze the concordance between the antenatal imaging findings from second-trimester US screening and the results of fetal postmortem autopsy. Between January 2010 and January 2020, there were 43 cases where fetuses with prenatal ultrasound diagnosis of a face abnormality, associated or not with a genetic syndrome or chromosomal disorder, following intrauterine death (IUD) or termination of pregnancy (TOP) after the 13 weeks of pregnancy, underwent autopsy in the Pathological Anatomy section of Bari Polyclinic specializing in feto-placental autopsies. The diagnosis of the fetal facial defects at ultrasound was compared with the findings at autopsy in all cases. A very high level of agreement between prenatal ultrasound and autopsy findings was found for facial abnormalities associated with genetic syndromes or numerical abnormality of chromosomes. A lower level of concordance was instead found in isolated facial defects or those associated with other organ anomalies, but not associated with genetic syndrome or numerical chromosome anomaly. A detailed examination of aborted fetuses led to successful quality control of early-second-trimester ultrasound detection of facial anomalies; however, it was less accurate for the isolated ones. It is, thus, reasonable to propose a systematic early-second-trimester prenatal ultrasound screening for facial anatomy by operators specialized in fetal medicine field, using 2D, 3D, and 4D techniques (two-, three-, and four-dimensional ultrasound).
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Affiliation(s)
- Bruno Lamanna
- Department of Biomedical Sciences and Human Oncology, University of Bari “Aldo Moro”, 70121 Bari, Italy
- Fetal Medicine Research Institute, King’s College Hospital, London SE5 9RS, UK
| | - Miriam Dellino
- Department of Biomedical Sciences and Human Oncology, University of Bari “Aldo Moro”, 70121 Bari, Italy
| | - Eliano Cascardi
- Department of Medical Sciences, University of Turin, 10124 Turin, Italy
- Pathology Unit, FPO-IRCCS Candiolo Cancer Institute, 10060 Candiolo, Italy
| | - Mia Rooke-Ley
- Fetal Medicine Research Institute, King’s College Hospital, London SE5 9RS, UK
| | - Marina Vinciguerra
- Department of Biomedical Sciences and Human Oncology, University of Bari “Aldo Moro”, 70121 Bari, Italy
| | - Gerardo Cazzato
- Department of Precision and Regenerative Medicine and Jonic Area, University of Bari “Aldo Moro”, 70121 Bari, Italy
| | - Antonio Malvasi
- Department of Biomedical Sciences and Human Oncology, University of Bari “Aldo Moro”, 70121 Bari, Italy
| | - Amerigo Vitagliano
- Department of Biomedical Sciences and Human Oncology, University of Bari “Aldo Moro”, 70121 Bari, Italy
| | - Pierpaolo Nicolì
- Department of Biomedical Sciences and Human Oncology, University of Bari “Aldo Moro”, 70121 Bari, Italy
| | - Michele Di Cosola
- Department of Clinical and Experimental Medicine, University of Foggia, Via Rovelli 50, 71122 Foggia, Italy
| | - Andrea Ballini
- Department of Clinical and Experimental Medicine, University of Foggia, Via Rovelli 50, 71122 Foggia, Italy
- Department of Precision Medicine, University of Campania “Luigi Vanvitelli”, 80138 Naples, Italy
| | - Ettore Cicinelli
- Department of Biomedical Sciences and Human Oncology, University of Bari “Aldo Moro”, 70121 Bari, Italy
| | - Antonella Vimercati
- Department of Precision and Regenerative Medicine and Jonic Area, University of Bari “Aldo Moro”, 70121 Bari, Italy
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Song WL, Ma HO, Nan Y, Li YJ, Qi N, Zhang LY, Xu X, Wang YY. Prenatal diagnosis of isolated lateral facial cleft by ultrasonography and three-dimensional printing: A case report. World J Clin Cases 2021; 9:7196-7204. [PMID: 34540978 PMCID: PMC8409206 DOI: 10.12998/wjcc.v9.i24.7196] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 02/23/2021] [Revised: 06/17/2021] [Accepted: 07/06/2021] [Indexed: 02/06/2023] Open
Abstract
BACKGROUND Lateral facial clefts are atypical with a low incidence in the facial cleft spectrum. With the development of ultrasonography (US) prenatal screening, such facial malformations can be detected and diagnosed prenatally rather than at birth. Although three-dimensional US (3DUS) can render the fetus' face via 3D reconstruction, the 3D images are displayed on two-dimensional screens without field depth, which impedes the understanding of untrained individuals. In contrast, a 3D-printed model of the fetus' face helps both parents and doctors develop a more comprehensive understanding of the facial malformation by creating more interactive aspects. Herein, we present an isolated lateral facial cleft case that was diagnosed via US combined with a 3D-printed model.
CASE SUMMARY A 31-year-old G2P1 patient presented for routine prenatal screening at the 22nd wk of gestation. The coronal nostril-lip section of two-dimensional US (2DUS) demonstrated that the fetus' bilateral oral commissures were asymmetrical, and left oral commissure was abnormally wide. The left oblique-coronal section showed a cleft at the left oral commissure which extended to the left cheek. The results of 3DUS confirmed the cleft. Furthermore, we created a model of the fetal face using 3D printing technology, which clearly presented facial malformations. The fetus was diagnosed with a left lateral facial cleft, which was categorized as a No. 7 facial cleft according to the Tessier facial cleft classification. The parents terminated the pregnancy at the 24th wk of gestation after parental counseling.
CONCLUSION In the diagnostic course of the current case, in addition to the traditional application of 2D and 3DUS, we created a 3D-printed model of the fetus, which enhanced diagnostic evidence, benefited the education of junior doctors, improved parental counseling, and had the potential to guide surgical planning.
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Affiliation(s)
- Wen-Ling Song
- Department of Obstetrics, The First Hospital of Jilin University, Changchun 130021, Jilin Province, China
| | - Hai-Ou Ma
- Prenatal Diagnosis Center, The Second Hospital of Jilin University, Changchun 130021, Jilin Province, China
| | - Yu Nan
- Prenatal Diagnosis Center, The Second Hospital of Jilin University, Changchun 130021, Jilin Province, China
| | - Yu-Jia Li
- Prenatal Diagnosis Center, The Second Hospital of Jilin University, Changchun 130021, Jilin Province, China
| | - Na Qi
- Prenatal Diagnosis Center, The Second Hospital of Jilin University, Changchun 130021, Jilin Province, China
| | - Li-Ying Zhang
- Prenatal Diagnosis Center, The Second Hospital of Jilin University, Changchun 130021, Jilin Province, China
| | - Xin Xu
- Prenatal Diagnosis Center, The Second Hospital of Jilin University, Changchun 130021, Jilin Province, China
| | - Yuan-Yi Wang
- Department of Spine Surgery, The First Hospital of Jilin University, Jilin Engineering Research Center for Spine and Spinal Cord, Changchun 130021, Jilin Province, China
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Sun M, Lv N, Xiao Y, Li J, Guan G. A rare case of accessory maxilla: a case report and literature review of Tessier no. 7 clefts. J Int Med Res 2021; 48:300060520925680. [PMID: 32436459 PMCID: PMC7243405 DOI: 10.1177/0300060520925680] [Citation(s) in RCA: 4] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/30/2022] Open
Abstract
Bilateral Tessier no. 7 clefts are rarely reported in the literature. Here, we describe the presence of accessory maxilla with supernumerary teeth in a patient who exhibited bilateral Tessier no. 7 clefts; the diagnosis was established based on the patient’s history, clinical presentation, and computed tomography images. A review of the available literature revealed 24 patients with Tessier no. 7 clefts from 2000 to 2020, including our patient. The most common clinical manifestation in patients with Tessier no. 7 clefts comprises bilateral facial clefts. Additionally, Tessier no. 7 clefts are more frequently found in boys or men, rather than in girls or women. The presence of an accessory maxilla with supernumerary teeth in a patient with bilateral Tessier no. 7 clefts is extremely rare. Early detection of craniofacial abnormalities is important, because it may influence patient prognosis and management.
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Affiliation(s)
- Ming Sun
- Department of Stomatology, the First Affiliated Hospital of Anhui Medical University, Hefei, China
| | - Na Lv
- Department of Stomatology, the First Affiliated Hospital of Anhui Medical University, Hefei, China
| | - Ya Xiao
- Department of Stomatology, the First Affiliated Hospital of Anhui Medical University, Hefei, China
| | - Jiabin Li
- Department of Infectious Diseases, the First Affiliated Hospital of Anhui Medical University, Hefei, China.,Anhui Center for Surveillance of Bacterial Resistance, Hefei, China.,Institute of Bacterial Resistance, Anhui Medical University, Hefei, China.,Department of Infectious Diseases, the Chaohu Affiliated Hospital of Anhui Medical University, Hefei, China
| | - Guangzhao Guan
- Department of Oral Diagnostic and Surgical Sciences, Faculty of Dentistry, University of Otago, Dunedin, New Zealand
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Lee M, Ko YB, Yang JB, Kang BH. Prenatal 3D sonography of an isolated lateral facial cleft. JOURNAL OF CLINICAL ULTRASOUND : JCU 2018; 46:292-295. [PMID: 28961312 DOI: 10.1002/jcu.22535] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 04/05/2017] [Revised: 08/01/2017] [Accepted: 08/07/2017] [Indexed: 06/07/2023]
Abstract
Lateral facial cleft is a rare congenital anomaly, but all affected infants require surgery under general anesthesia. Conventional 2-dimensional coronal view of the face, which is typically used for identification of facial clefts, has limitations with regard to detection of this anomaly. We describe a case of prenatal diagnosis of isolated lateral facial cleft made with 3D sonography and highlight the importance of this tool in the diagnosis of this rare facial deformity.
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Affiliation(s)
- Mina Lee
- Department of Obstetrics and Gynecology, Chugnam National University Hospital, Chungnam National University School of Medicine, Daejeon, South Korea
| | - Young-Bok Ko
- Department of Obstetrics and Gynecology, Chugnam National University Hospital, Chungnam National University School of Medicine, Daejeon, South Korea
| | - Jung-Bo Yang
- Department of Obstetrics and Gynecology, Chugnam National University Hospital, Chungnam National University School of Medicine, Daejeon, South Korea
| | - Byung-Hun Kang
- Department of Obstetrics and Gynecology, Chugnam National University Hospital, Chungnam National University School of Medicine, Daejeon, South Korea
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Cavaco-Gomes J, Duarte C, Pereira E, Matias A, Montenegro N, Merz E. Prenatal ultrasound diagnosis of Tessier number 7 cleft: Case report and review of the literature. J OBSTET GYNAECOL 2017; 37:421-427. [PMID: 28287290 DOI: 10.1080/01443615.2017.1285274] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/29/2023]
Abstract
Lateral or transverse facial clefts are the most frequent of the atypical facial clefts, classified by Tessier as no. 7 clefts. Most of the cases are diagnosed at birth, while few cases are diagnosed prenatally. We report a case of prenatal ultrasound detection and three-dimensional characterisation of a lateral facial cleft at 21 weeks of gestation, which was terminated at 22 weeks. It was a transverse cleft, running through the left cheek towards the ear, along with micrognathia and mild polyhydramnios. We also present a review on classification, anatomical features and prenatal diagnosis of Tessier no. 7 cleft.
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Affiliation(s)
- João Cavaco-Gomes
- a Department of Obstetrics and Gynecology , Centro Hospitalar de São João, EPE , Porto , Portugal
| | - Carla Duarte
- b Department of Obstetrics and Gynecology , Centro Hospitalar Alto Ave - EPE , Guimarães , Portugal
| | - Elsa Pereira
- b Department of Obstetrics and Gynecology , Centro Hospitalar Alto Ave - EPE , Guimarães , Portugal
| | - Alexandra Matias
- a Department of Obstetrics and Gynecology , Centro Hospitalar de São João, EPE , Porto , Portugal.,c Faculty of Medicine, University of Porto , Porto , Portugal
| | - Nuno Montenegro
- a Department of Obstetrics and Gynecology , Centro Hospitalar de São João, EPE , Porto , Portugal.,c Faculty of Medicine, University of Porto , Porto , Portugal
| | - Eberhard Merz
- d Center for Ultrasound and Prenatal Medicine , Frankfurt/M , Germany
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Issar Y, Kaushal N, Goomer P. Unusual case of concomitant occurrence of Tessier's number 7 cleft and dentigerous cyst. Contemp Clin Dent 2014; 5:402-5. [PMID: 25191083 PMCID: PMC4147823 DOI: 10.4103/0976-237x.137972] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/04/2022] Open
Abstract
Dentigerous cysts are commonly encountered associated with impacted teeth; however the exact histogenesis of these cysts is not known even though numerous theories have been proposed. Majority of the maxillary cysts arise as a result of defect in the embryonal development, which can be either abnormal fusion of facial processes or as a result of abnormality in the development of dental follicle. Congenital Tessier's number 7 unilateral facial cleft is a rare anomaly, which arises as a result of defect in the fusion of facial processes. We report an unusual case of concomitant occurrence of Tesssier's number 7 cleft and maxillary dentigerous cyst in 11-year-old child.
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Affiliation(s)
- Yuvraj Issar
- Department of Oral and Maxillofacial Surgery, Military Hospital, Pathankot, Panjab, India
| | - Nitin Kaushal
- Department of Oral and Maxillofacial Pathology, BRS Dental College and Hospital, Sultanpur, Panchkula, Haryana, India
| | - Pallvi Goomer
- Department of Paedodontics, BRS Dental College and Hospital, Sultanpur, Panchkula, Haryana, India
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Chang YL, Lien R, Chang SD, Chao AS. Prenatal 3D sonographic diagnosis of an isolated lateral facial cleft. JOURNAL OF CLINICAL ULTRASOUND : JCU 2012; 40:219-221. [PMID: 21811999 DOI: 10.1002/jcu.20859] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 11/19/2010] [Accepted: 06/01/2011] [Indexed: 05/31/2023]
Abstract
We report a case of lateral facial cleft (Tessier 7) diagnosed by sonography at a gestational age of 24 weeks. Two-dimensional sonography revealed a fetus appropriate for gestational age without obvious anomaly, but a three-dimensional sonogram with surface mode rendering showed asymmetrical macrostomia as a result of a left lateral facial cleft. Our case highlights the advantage of using three-dimensional sonography in the prenatal diagnosis of lateral facial clefts.
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Affiliation(s)
- Yao-Lung Chang
- Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Chang Gung University College of Medicine, Tao-Yuan, Taiwan
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Troyano Luque JM, Padilla Pérez AI, Guerra Martín AL, Sánchez Peraza JJ, De La Rosa Rodríguez MA. A case of isolated Tessier 7 cleft in the newborn of a diabetic mother. J OBSTET GYNAECOL 2011; 31:343-5. [PMID: 21534763 DOI: 10.3109/01443615.2011.556268] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/30/2023]
Affiliation(s)
- J M Troyano Luque
- Department of Obstetrics and Gynaecology, Canary Islands University Hospital, Tenerife, Spain
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Asai S, Tanaka M, Miyakoshi K, Kim SH, Minegishi K, Matsuzaki Y, Kosaki K, Ogata H, Yoshimura Y. A case of Tessier number 7 cleft with severe micrognathia: prenatal sonographic and three-dimensional helical computed tomographic images. Prenat Diagn 2010; 30:159-61. [PMID: 20013874 DOI: 10.1002/pd.2402] [Citation(s) in RCA: 7] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/30/2023]
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Current awareness in prenatal diagnosis. Prenat Diagn 2005. [DOI: 10.1002/pd.1026] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/10/2023]
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