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Liu FQ, Yang ZX, Yang LH, Xi JM, Chen L, Zhou LY, Chen DX. Assessment of Fetal Posterior Fossa Anomalies at 11-13 +6 Gestational Weeks in the Midsagittal Cranial Plane by Three-Dimensional Multiplanar Sonography: A Prospective Study. JOURNAL OF ULTRASOUND IN MEDICINE : OFFICIAL JOURNAL OF THE AMERICAN INSTITUTE OF ULTRASOUND IN MEDICINE 2025. [PMID: 40186435 DOI: 10.1002/jum.16691] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Subscribe] [Scholar Register] [Received: 01/20/2025] [Accepted: 03/12/2025] [Indexed: 04/07/2025]
Abstract
OBJECTIVE The aim of this study was to describe the sonographic appearance of posterior fossa anomalies in fetuses at 11-13+6 weeks' gestation. METHODS This prospective study included 60 healthy fetuses and 15 fetuses with an abnormal posterior brain at 11-13+6 weeks' gestation. All three-dimensional images were processed using multiplanar image correlation to view the posterior fontanelle in the midsagittal views. The final diagnosis of all fetuses was confirmed using second-trimester ultrasonography, fetal magnetic resonance imaging, and/or genetic testing. RESULTS The brainstem morphology, fourth ventricle, choroid plexus of the fourth ventricle, vermis, and physiologic Blake pouch were clearly visualized at 11-13+6 weeks' gestation through the posterior fontanelle from the midsagittal view. Among the 15 fetuses analyzed, two had abnormal brainstem morphology, which was subsequently diagnosed as Walker-Warburg syndrome. The remaining 13 fetuses were diagnosed with posterior fossa cystic malformations (Dandy-Walker malformation, 2 fetuses; Blake's pouch cyst, 2 fetuses; Noonan syndrome, 1 fetus; trisomy 21, 2 fetuses; trisomy 18, 1 fetus; and transient dilatation of the fourth ventricle, 5 fetuses). The extended anterior membranous area and dysplastic vermis were strong markers of Dandy-Walker malformation. In fetuses with Blake pouch cysts, the vermis was visible, with the choroid plexus of the fourth ventricle located backward. CONCLUSIONS Sonography enables clear visualization of morphological changes in posterior fossa anomalies at 11-13+6 gestational weeks. An extended anterior membranous area, dysplastic vermis, and abnormal brainstem morphology are direct signs of early recognition of severe posterior fossa anomalies.
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Affiliation(s)
- Feng-Qin Liu
- Department of Ultrasonography, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology, Chengdu, China
| | - Ze-Xuan Yang
- Department of Ultrasonography, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology, Chengdu, China
| | - Lin-Hua Yang
- Department of Ultrasonography, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology, Chengdu, China
| | - Ji-Mei Xi
- Department of Ultrasonography, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology, Chengdu, China
| | - Lin Chen
- Department of Ultrasonography, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology, Chengdu, China
| | - Liu-Ying Zhou
- Department of Ultrasonography, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology, Chengdu, China
| | - De-Xin Chen
- Department of Gynecology, Sichuan Provincial Women's and Children's Hospital, The Affiliated Women's and Children's Hospital of Chengdu Medical College, Chengdu, China
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Nguyen T, O'Keane A, Vande Perre S, Chanclud J, le Pointe HD, Garel C, Blondiaux E. Fetal imaging of posterior fossa malformations. Pediatr Radiol 2025; 55:747-764. [PMID: 39556195 DOI: 10.1007/s00247-024-06075-4] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 06/02/2024] [Revised: 10/08/2024] [Accepted: 10/10/2024] [Indexed: 11/19/2024]
Abstract
Posterior fossa anomalies are less common in prenatal diagnosis than midline anomalies or ventricular dilatations. However, they constitute an important entity, combining neurological disorders as well as normal variants that should be recognized in prenatal diagnosis because of the genetic implications and neurodevelopmental outcome of some of these conditions. Here we present some of the main imaging features enabling prenatal diagnosis of posterior fossa anomalies in a context of constantly evolving classifications, resulting from advances in genetics and neuroimaging.
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Affiliation(s)
- Toan Nguyen
- Service de Radiologie Pédiatrique, GRC IMAGES, Hôpital Armand Trousseau, Médecine Sorbonne Université, APHP, 26 avenue du Docteur Arnold Netter, 75012, Paris, France.
| | - Aurélie O'Keane
- Service de Radiologie Pédiatrique, GRC IMAGES, Hôpital Armand Trousseau, Médecine Sorbonne Université, APHP, 26 avenue du Docteur Arnold Netter, 75012, Paris, France
| | - Saskia Vande Perre
- Service de Radiologie Pédiatrique, GRC IMAGES, Hôpital Armand Trousseau, Médecine Sorbonne Université, APHP, 26 avenue du Docteur Arnold Netter, 75012, Paris, France
| | - Justine Chanclud
- Service de Radiologie Pédiatrique, GRC IMAGES, Hôpital Armand Trousseau, Médecine Sorbonne Université, APHP, 26 avenue du Docteur Arnold Netter, 75012, Paris, France
| | - Hubert Ducou le Pointe
- Service de Radiologie Pédiatrique, GRC IMAGES, Hôpital Armand Trousseau, Médecine Sorbonne Université, APHP, 26 avenue du Docteur Arnold Netter, 75012, Paris, France
| | - Catherine Garel
- Service de Radiologie Pédiatrique, GRC IMAGES, Hôpital Armand Trousseau, Médecine Sorbonne Université, APHP, 26 avenue du Docteur Arnold Netter, 75012, Paris, France
- Centre de Référence Des Malformations et maladies congénitales du cervelet, Hôpital Armand-Trousseau, Médecine Sorbonne Université, APHP, Paris, France
| | - Eléonore Blondiaux
- Service de Radiologie Pédiatrique, GRC IMAGES, Hôpital Armand Trousseau, Médecine Sorbonne Université, APHP, 26 avenue du Docteur Arnold Netter, 75012, Paris, France
- Centre de Référence Des Malformations et maladies congénitales du cervelet, Hôpital Armand-Trousseau, Médecine Sorbonne Université, APHP, Paris, France
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Guo C, Sun L, Liu Y, Yan Y, Wang L, Wang X, Wu Q. Role of copy number variation analysis in prenatally diagnosed Blake's pouch cyst. BMC Pregnancy Childbirth 2024; 24:842. [PMID: 39707235 DOI: 10.1186/s12884-024-07014-9] [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: 05/19/2024] [Accepted: 11/26/2024] [Indexed: 12/23/2024] Open
Abstract
BACKGROUND Blake's pouch cyst (BPC) is a midline cystic anomaly of the posterior fossa. BPC has been shown to have a risk of aneuploidy prenatally. Copy number variation (CNV) and/or genetic syndromes have been reported in a few prenatal/postnatal cases with BPC. The purpose of this study is to determine the additional value of CNV analysis for prenatal diagnosis and prognosis evaluation of BPC. METHODS We reviewed the sonographic findings and genetic results of BPC diagnosed within 6 years at our center. Patients were classified into the isolated and non-isolated groups based on the prenatal and postnatal imaging. We analyzed the chromosomal abnormalities by conventional karyotype analysis combined with chromosomal microarray analysis (CMA) or CNV sequencing (CNV-seq). RESULTS We recruited 467 low-risk fetuses as the control group to establish normal references of vermian area and brainstem-vermis (BV) angle. Prenatal/postnatal MRI or neonatal neurosonography was used as diagnostic criteria. 34 patients were diagnosed as BPC, including 21 (61.8%) patients with non-isolated and 13 (38.2%) with isolated. Twenty-two patients underwent CMA/CNV-seq, among them 14 patients were performed both CMA/CNV-seq and karyotype analysis. Seven (7/22, 31.8%) patients with BPC had chromosomal abnormalities, including 3 (3/22, 13.6%) patients with chromosomal aneuploidy - trisomy 21, 18 and 13, and 4 (4/22, 18.2%) patients had pathogenic CNVs located at 3p, 9p, Xp/Xq and 7p. Anomalies in fetal heart (35.3%), central nervous system (CNS) (26.5%) and limb (14.7%) were the three top anomalies accompanying BPC. CONCLUSIONS CNV analysis could provide some additional information for prenatal diagnosis and prognosis counseling for patients with non-isolated BPC. And, it adds less value for patients with isolated BPC, however, isolated BPC can be a soft marker for aneuploidy.
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Affiliation(s)
- Cuixia Guo
- Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Maternal and Child Health Care Hospital, Beijing, 100026, China
| | - Lijuan Sun
- Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Maternal and Child Health Care Hospital, Beijing, 100026, China.
| | - Yan Liu
- Department of Prenatal Diagnostic Center, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, Beijing, China
| | - Yousheng Yan
- Department of Prenatal Diagnostic Center, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, Beijing, China
| | - Li Wang
- Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Maternal and Child Health Care Hospital, Beijing, 100026, China
| | - Xinlian Wang
- Department of Radiology, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Maternal and Child Health Care Hospital, Beijing, China
| | - Qingqing Wu
- Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Maternal and Child Health Care Hospital, Beijing, 100026, China.
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Sun L, Yu J, Yao J, Cao Y, Sun N, Chen K, Lin Y, Ji C, Zhang J, Ling C, Yang Z, Pan Q, Yang R, Yang X, Ni D, Yin L, Deng X. A novel artificial intelligence model for measuring fetal intracranial markers during the first trimester based on two-dimensional ultrasound image. Int J Gynaecol Obstet 2024; 167:1090-1100. [PMID: 38944698 DOI: 10.1002/ijgo.15762] [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: 12/27/2023] [Revised: 05/30/2024] [Accepted: 06/17/2024] [Indexed: 07/01/2024]
Abstract
OBJECTIVE To establish reference ranges of fetal intracranial markers during the first trimester and develop the first novel artificial intelligence (AI) model to measure key markers automatically. METHODS This retrospective study used two-dimensional (2D) ultrasound images from 4233 singleton normal fetuses scanned at 11+0-13+6 weeks of gestation at the Affiliated Suzhou Hospital of Nanjing Medical University from January 2018 to July 2022. We analyzed 10 key markers in three important planes of the fetal head. Based on these, reference ranges of 10 fetal intracranial markers were established and an AI model was developed for automated marker measurement. AI and manual measurements were compared to evaluate differences, correlations, consistency, and time consumption based on mean error, Pearson correlation analysis, intraclass correlation coefficients (ICCs), and average measurement time. RESULTS The results of AI and manual methods had strong consistency and correlation (all ICC values >0.75, all r values >0.75, and all P values <0.001). The average absolute error of both only ranged from 0.124 to 0.178 mm. AI achieved a 100% detection rate for abnormal cases. Additionally, the average measurement time of AI was only 0.49 s, which was more than 65 times faster than the manual measurement method. CONCLUSION The present study first established the normal standard reference ranges of fetal intracranial markers based on a large Chinese population data set. Furthermore, the proposed AI model demonstrated its capability to measure multiple fetal intracranial markers automatically, serving as a highly effective tool to streamline sonographer tasks and mitigate manual measurement errors, which can be generalized to first-trimester scanning.
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Affiliation(s)
- Lingling Sun
- Center for Medical Ultrasound, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, Gusu School, Nanjing Medical University, Suzhou, Jiangsu, China
| | - Junxuan Yu
- National-Regional Key Technology Engineering Laboratory for Medical Ultrasound, School of Biomedical Engineering, Health Science Center, Shenzhen University, Shenzhen, Guangdong, China
| | - Jiezhi Yao
- National-Regional Key Technology Engineering Laboratory for Medical Ultrasound, School of Biomedical Engineering, Health Science Center, Shenzhen University, Shenzhen, Guangdong, China
| | - Yan Cao
- Shenzhen RayShape Medical Technology Co., Ltd, Shenzhen, Guangdong, China
| | - Naimin Sun
- Center for Medical Ultrasound, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, Gusu School, Nanjing Medical University, Suzhou, Jiangsu, China
| | - Keqi Chen
- Center for Medical Ultrasound, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, Gusu School, Nanjing Medical University, Suzhou, Jiangsu, China
| | - Yujia Lin
- National-Regional Key Technology Engineering Laboratory for Medical Ultrasound, School of Biomedical Engineering, Health Science Center, Shenzhen University, Shenzhen, Guangdong, China
| | - Chunya Ji
- Center for Medical Ultrasound, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, Gusu School, Nanjing Medical University, Suzhou, Jiangsu, China
| | - Jun Zhang
- Center for Medical Ultrasound, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, Gusu School, Nanjing Medical University, Suzhou, Jiangsu, China
| | - Chen Ling
- Center for Medical Ultrasound, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, Gusu School, Nanjing Medical University, Suzhou, Jiangsu, China
| | - Zhong Yang
- Center for Medical Ultrasound, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, Gusu School, Nanjing Medical University, Suzhou, Jiangsu, China
| | - Qi Pan
- Center for Medical Ultrasound, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, Gusu School, Nanjing Medical University, Suzhou, Jiangsu, China
| | - Ronghao Yang
- National-Regional Key Technology Engineering Laboratory for Medical Ultrasound, School of Biomedical Engineering, Health Science Center, Shenzhen University, Shenzhen, Guangdong, China
| | - Xin Yang
- National-Regional Key Technology Engineering Laboratory for Medical Ultrasound, School of Biomedical Engineering, Health Science Center, Shenzhen University, Shenzhen, Guangdong, China
| | - Dong Ni
- National-Regional Key Technology Engineering Laboratory for Medical Ultrasound, School of Biomedical Engineering, Health Science Center, Shenzhen University, Shenzhen, Guangdong, China
| | - Linliang Yin
- Center for Medical Ultrasound, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, Gusu School, Nanjing Medical University, Suzhou, Jiangsu, China
| | - Xuedong Deng
- Center for Medical Ultrasound, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, Gusu School, Nanjing Medical University, Suzhou, Jiangsu, China
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Volpe P, De Robertis V, Fanelli T, Volpe G, Olivieri C, Boito S, Persico N. Impact of choroid plexus size in prenatal diagnosis of normal and abnormal closure of fourth ventricle. ULTRASOUND IN OBSTETRICS & GYNECOLOGY : THE OFFICIAL JOURNAL OF THE INTERNATIONAL SOCIETY OF ULTRASOUND IN OBSTETRICS AND GYNECOLOGY 2023; 62:875-881. [PMID: 37266920 DOI: 10.1002/uog.26278] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 03/16/2023] [Revised: 05/18/2023] [Accepted: 05/24/2023] [Indexed: 06/03/2023]
Abstract
OBJECTIVE To assess the role of the choroid plexus (CP) of the fourth ventricle (4V) in fetuses with an open 4V and a normal cerebellar vermis. METHODS Two groups of patients were recruited in two fetal medicine referral centers. The prospectively collected control group included singleton pregnancies with a normal sonographic examination after first-trimester combined screening for chromosomal abnormalities and normal outcome, recruited in the period between 2019 and 2022. The study group was selected retrospectively by searching our databases to identify all cases with an isolated open 4V and normal anatomy and size of the cerebellar vermis. The inclusion criteria of the study group were: (1) gestational age between 20 and 22 weeks; (2) a brainstem-vermis angle ≥ 18° in the midsagittal plane with an otherwise normal cerebellum and vermis; (3) 4V-CP visible and seen separately from the vermis; (4) absence of other intra- and extracranial anomalies; and (5) available prenatal and/or postnatal magnetic resonance imaging (MRI) data. RESULTS In 169 cases of the control group, the 4V-CP was seen separately from the cerebellar vermis and was noticed to progressively fill the space caudal to the 4V, between the vermis and brainstem. From 12 to 22 weeks, the surface areas of the vermis and medial portion of the 4V-CP increased progressively with advancing gestation (P < 0.0001). Intra- and interobserver correlation analysis showed good reproducibility for the measurements. Among the cases with an open 4V and a normal vermis, it was retrospectively feasible to visualize the 4V-CP separately from the inferior part of the vermis in 41 fetuses. In five of these cases, the open 4V was due to a small CP. In all 41 fetuses, the diagnosis on MRI was isolated upward rotation of the cerebellar vermis, and no additional anomaly was found. CONCLUSIONS Closure of the 4V is dependent on the 4V-CP and not only the cerebellar vermis. In fact, a small CP may represent another cause of an open 4V. Therefore, separate visualization of the 4V-CP and cerebellar vermis is crucial to improve discrimination between the different causes of an open 4V at the anomaly scan and its clinical implications. © 2023 International Society of Ultrasound in Obstetrics and Gynecology.
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Affiliation(s)
- P Volpe
- Fetal Medicine Unit, Di Venere and Sarcone Hospitals, Bari, Italy
| | - V De Robertis
- Fetal Medicine Unit, Di Venere and Sarcone Hospitals, Bari, Italy
| | - T Fanelli
- Fetal Medicine Unit, Di Venere and Sarcone Hospitals, Bari, Italy
| | - G Volpe
- Fetal Medicine and Surgery Service, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy
| | - C Olivieri
- Fetal Medicine Unit, Di Venere and Sarcone Hospitals, Bari, Italy
| | - S Boito
- Fetal Medicine and Surgery Service, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy
| | - N Persico
- Fetal Medicine and Surgery Service, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy
- Department of Clinical Science and Community Health, University of Milan, Milan, Italy
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Hu Y, Sun L, Feng L, Wang J, Zhu Y, Wu Q. The role of routine first-trimester ultrasound screening for central nervous system abnormalities: a longitudinal single-center study using an unselected cohort with 3-year experience. BMC Pregnancy Childbirth 2023; 23:312. [PMID: 37138220 PMCID: PMC10157940 DOI: 10.1186/s12884-023-05644-z] [Citation(s) in RCA: 2] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/29/2022] [Accepted: 04/25/2023] [Indexed: 05/05/2023] Open
Abstract
BACKGROUND To evaluate the role of a standardized first-trimester scan in screening different kinds of central nervous system malformations and to report a 3-year experience from a tertiary center using an unselected cohort. METHODS This was a retrospective analysis of prospectively collected data from a single center evaluating first-trimester scans with predesigned standardized protocols performed between 1 May 2017 and 1 May 2020, involving 39,526 pregnancies. All pregnant women underwent a series of prenatal ultrasound scans at 11-14, 20-24, 28-34 and 34-38 weeks of gestation. Abnormalities were confirmed by magnetic resonance imaging, postmortem examination or trained ultrasound professionals. Pregnancy outcomes and some postnatal follow-up were obtained from maternity medical records and telephone calls. RESULTS A total of 38,586 pregnancies included in the study. The detection rates of CNS anomalies by ultrasound in the first, second, third and late third trimester were 32%, 22%, 25%, and 16%, respectively. And there were 5% of CNS anomalies missed by prenatal ultrasound. In the first-trimester scan, we diagnosed all cases of exencephaly, anencephaly, alobar holoprosencephaly and meningoencephalocele, and some cases of posterior cranial fossa anomalies (20%), open spina bifida (67%), semilobar holoprosencephaly (75%) and severe ventriculomegaly (8%). Vein of Galen aneurysmal malformation, closed spina bifida, lobar holoprosencephaly, intracranial infection, arachnoid cyst, agenesis of the corpus callosum, cysts of the septum pellucidum and isolated absence of the septum pellucidum were never detected during the first trimester. The abortion rates of fetal CNS anomalies detected by first-trimester scan, second-trimester scan, and third- trimester scan were 96%, 84% and 14%, respectively. CONCLUSIONS The study showed that almost 1/3 of central nervous system anomalies were detected by the standard first-trimester scan and these cases were associated with a high rate of abortion. Early screening for fetal abnormalities gives parents more time for medical advice and safer abortion if needed. It is therefore recommended that some major CNS anomalies should be screened in the first trimester. The standardized anatomical protocol, consisting of four fetal brain planes, were recommended for routine first trimester ultrasound screening.
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Affiliation(s)
- Yu Hu
- Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, P. R. China
- Beijing Maternal and Child Health Care Hospital, Beijing, P. R. China
| | - Lijuan Sun
- Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, P. R. China
- Beijing Maternal and Child Health Care Hospital, Beijing, P. R. China
| | - Li Feng
- Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, P. R. China
- Beijing Maternal and Child Health Care Hospital, Beijing, P. R. China
| | - Jingjing Wang
- Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, P. R. China
- Beijing Maternal and Child Health Care Hospital, Beijing, P. R. China
| | - Yantong Zhu
- Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, P. R. China
- Beijing Maternal and Child Health Care Hospital, Beijing, P. R. China
| | - Qingqing Wu
- Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, P. R. China.
- Beijing Maternal and Child Health Care Hospital, Beijing, P. R. China.
- Department Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, No.251 Yaojiayuan Road, Beijing, Chaoyang District, 100026, P. R. China.
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Sepulveda W, Garcia-Rodriguez R, Martinez-Ten P, Tonni G, Grisolia G, Meagher S. Basic sonographic examination of the fetal brain at 11-13 weeks' gestation: Rationale for a simple and reliable four-step technique. JOURNAL OF CLINICAL ULTRASOUND : JCU 2023; 51:300-310. [PMID: 36785499 DOI: 10.1002/jcu.23337] [Citation(s) in RCA: 2] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 07/17/2022] [Revised: 08/26/2022] [Accepted: 08/29/2022] [Indexed: 06/18/2023]
Abstract
The widespread incorporation of first-trimester scanning between 11 and 13 weeks' gestation has shifted from the screening of chromosomal abnormalities, mainly by measuring nuchal translucency thickness and visualization of the nasal bone, to a more detailed study of the fetal anatomy leading to early detection of several structural congenital anomalies. This goal can be improved by the routine and focused sonographic assessment of specific anatomic planes and the identification of distinctive landmarks that can help disclosing a particular, non-evident condition. In this article we present the basis for a basic, early examination of the fetal brain during screening using a four-step technique, which can be readily incorporated during the first-trimester scan. The technique includes the focused visualization of the cranial contour, choroid plexuses of the lateral ventricles and midline, aqueduct of Sylvius, brainstem, fourth ventricle, and the choroid plexus of the fourth ventricle. The rationale for this approach is presented and discussed.
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Affiliation(s)
- Waldo Sepulveda
- FETALMED-Maternal-Fetal Diagnostic Center, Fetal Imaging Unit, Santiago, Chile
| | - Raquel Garcia-Rodriguez
- Fetal Medicine Unit, Department of Obstetrics and Gynecology, Complejo Hospitalario Universitario Insular Materno Infantil, Las Palmas de Gran Canaria, Spain
| | - Pilar Martinez-Ten
- DELTA-Ultrasound Diagnostic Center for Obstetrics and Gynecology, Madrid, Spain
| | - Gabriele Tonni
- Prenatal Diagnostic Centre, Department of Obstetrics and Neonatology, Istituto di Cura e Ricovero a Carattere Scientifico (IRCCS), Reggio Emilia, Italy
| | - Gianpaolo Grisolia
- Department of Obstetrics and Gynecology, Carlo Poma Hospital, Mantua, Italy
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Ungureanu DR, Drăgușin RC, Căpitănescu RG, Zorilă L, Ofițeru AMI, Marinaș C, Pătru CL, Comănescu AC, Comănescu MC, Sîrbu OC, Vrabie MS, Dijmărescu LA, Streață I, Burada F, Ioana M, Drăgoescu AN, Iliescu DG. First Trimester Ultrasound Detection of Fetal Central Nervous System Anomalies. Brain Sci 2023; 13:118. [PMID: 36672099 PMCID: PMC9857041 DOI: 10.3390/brainsci13010118] [Citation(s) in RCA: 4] [Impact Index Per Article: 2.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/06/2022] [Revised: 12/21/2022] [Accepted: 01/03/2023] [Indexed: 01/11/2023] Open
Abstract
OBJECTIVE To evaluate the potential of the first-trimester ultrasound (US) features for the detection of central nervous system (CNS) anomalies. Methods/Methodology: This is a prospective one-center three-year study. Unselected singleton pregnant women were examined using an extended first-trimester anomaly scan (FTAS) that included the CNS assessment: the calvaria shape, the septum (falx cerebri), the aspect of the lateral ventricles, the presence of the third ventricle and aqueduct of Sylvius (AS) and the posterior brain morphometry: the fourth ventricle, namely intracranial translucency (IT), brain stem/brain stem-occipital bone ratio (BS/BSOB) and cisterna magna (CM). The spine and underlying skin were also evaluated. The cases were also followed during the second and third trimesters of pregnancy and at delivery. FTAS efficiency to detect major CNS abnormalities was calculated. RESULTS We detected 17 cases with CNS major abnormalities in a population of 1943 first-trimester (FT) fetuses, including spina bifida with myelomeningocele, exencephaly-anencephaly, holoprosencephaly, hydrocephaly, cephalocele and Dandy-Walker malformation. The CNS features in the abnormal group are presented. In the second trimester (ST), we further diagnosed cases of corpus callosum agenesis, cerebellar hypoplasia, vein of Galen aneurysm and fetal infection features (ventriculomegaly, intraventricular bands, intraventricular cyst and hyperechoic foci), all declared normal at the FTAS. During the third trimester (TT) scan we identified a massive fetal cerebral haemorrhage absent at previous investigations. We report a detection rate of 72.7% of fetal brain anomalies in the FT using the proposed CNS parameters. The sensitivity of the examination protocol was 72.7%, and the specificity was 100%. CONCLUSION A detailed FT CNS scan is feasible and efficient. The majority of cases of major CNS abnormalities can be detected early in pregnancy. The visualization rates of the CNS parameters in the FT are great with short, if any, additional investigation time. FT cerebral disorders such as haemorrhage or infections were missed in the FT even when an extended evaluation protocol was used.
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Affiliation(s)
- Delia Roxana Ungureanu
- Doctoral School, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania
| | - Roxana Cristina Drăgușin
- Department of Obstetrics and Gynecology, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania
- Department of Obstetrics and Gynecology, Emergency Clinical County Hospital, 200642 Craiova, Romania
| | - Răzvan Grigoraș Căpitănescu
- Department of Obstetrics and Gynecology, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania
- Department of Obstetrics and Gynecology, Emergency Clinical County Hospital, 200642 Craiova, Romania
| | - Lucian Zorilă
- Department of Obstetrics and Gynecology, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania
- Department of Obstetrics and Gynecology, Emergency Clinical County Hospital, 200642 Craiova, Romania
| | - Anca Maria Istrate Ofițeru
- Department of Obstetrics and Gynecology, Emergency Clinical County Hospital, 200642 Craiova, Romania
- Department of Histology, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania
| | - Cristian Marinaș
- Department of Obstetrics and Gynecology, Emergency Clinical County Hospital, 200642 Craiova, Romania
- Department of Human Anatomy, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania
| | - Ciprian Laurențiu Pătru
- Department of Obstetrics and Gynecology, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania
- Department of Obstetrics and Gynecology, Emergency Clinical County Hospital, 200642 Craiova, Romania
| | - Alexandru Cristian Comănescu
- Department of Obstetrics and Gynecology, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania
- Department of Obstetrics and Gynecology, Emergency Clinical County Hospital, 200642 Craiova, Romania
| | - Maria Cristina Comănescu
- Department of Obstetrics and Gynecology, Emergency Clinical County Hospital, 200642 Craiova, Romania
- Department of Human Anatomy, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania
| | - Ovidiu Costinel Sîrbu
- Department of Obstetrics and Gynecology, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania
- Department of Obstetrics and Gynecology, Emergency Clinical County Hospital, 200642 Craiova, Romania
| | - Maria-Sidonia Vrabie
- Department of Obstetrics and Gynecology, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania
- Department of Obstetrics and Gynecology, Filantropia County Hospital, 200143 Craiova, Romania
| | - Lorena Anda Dijmărescu
- Department of Obstetrics and Gynecology, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania
- Department of Obstetrics and Gynecology, Filantropia County Hospital, 200143 Craiova, Romania
| | - Ioana Streață
- Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania
- Regional Centre of Medical Genetics Dolj, Emergency Clinical County Hospital Craiova, 200642 Craiova, Romania
| | - Florin Burada
- Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania
- Regional Centre of Medical Genetics Dolj, Emergency Clinical County Hospital Craiova, 200642 Craiova, Romania
| | - Mihai Ioana
- Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania
- Regional Centre of Medical Genetics Dolj, Emergency Clinical County Hospital Craiova, 200642 Craiova, Romania
| | - Alice Nicoleta Drăgoescu
- Department of Anesthesia and Intensive Care, Emergency Clinical County Hospital, 200642 Craiova, Romania
- Department of Anesthesia and Intensive Care, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania
| | - Dominic Gabriel Iliescu
- Department of Obstetrics and Gynecology, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania
- Department of Obstetrics and Gynecology, Emergency Clinical County Hospital, 200642 Craiova, Romania
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Feng L, Sun L, Wang J, Sun C, Lu L, Zhang Z, Hu Y, Wu Q. Qualitative and quantitative study of fetal posterior fossa during the first trimester in a Chinese population. BMC Pregnancy Childbirth 2022; 22:760. [PMID: 36217104 PMCID: PMC9552477 DOI: 10.1186/s12884-022-05086-z] [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] [Received: 06/17/2022] [Accepted: 09/28/2022] [Indexed: 11/23/2022] Open
Abstract
Background To establish the normal reference ranges for parameters related to the fetal posterior fossa in the first trimester (11 ~ 13+6 weeks of gestation) and to analyze the relationship between them and crown-rump length (CRL) among the Chinese population. Methods Singleton pregnancies of 11 ~ 13+6 weeks (CRL:45 ~ 84 mm) with both parents from China were randomly selected from January 2021 to November 2021. The related parameters of the posterior fossa including cisterna magna (CM), intracranial translucency (IT), brain stem (BS), brain stem to the occipital bone (BSOB), and brain stem/brain stem to occipital bone (BS/BSOB) were evaluated and measured in nuchal translucency (NT) mid-sagittal section clearly by an experienced sonographer (operator 1). To assess the reproducibility of the measurements, we randomly selected 50 pregnant women. According to the blind method, operators 1 and 2 respectively screened and measured relevant parameters. In addition, operator 1 examined and measured relevant parameters again 2 h after the first. Results This study included 1663 fetuses. All fetuses can clearly show the three spaces of the fetal posterior fossa. The ICCs (95% CI) of intra-operator reproducibility of CM, IT, BS, BSOB, BS/BSOB were 0.981 (0.952 ~ 0.991, P < 0.001), 0.929 (0.866 ~ 0.961, P < 0.001), 0.970 (0.946 ~ 0.983, P < 0.001), 0.991 (0.974 ~ 0.996, P < 0.001), 0.939 (0.892 ~ 0.965, P < 0.001), respectively; The ICCs (95% CI) of inter-operator reproducibility 0.926 (0.860 ~ 0.960, P < 0.001), 0.810 (-0.083 ~ 0.940, P < 0.001), 0.820 (0.645 ~ 0.904, P < 0.001), 0.804 (0.656 ~ 0.888, P < 0.001), 0.772 (0.599 ~ 0.871, P < 0.001), respectively. There was a linear correlation between CRL and the parameters related to the posterior fossa (CM, IT, BS, BSOB, BS/BSOB). CM (mm) = -1.698 + 0.532 × CRL (cm) (r = 0.829, P < 0.001); IT (mm) = 0.701 + 0.179 × CRL (cm) (r = 0.548, P < 0.001); BS (mm) = 0.403 + 0.349 × CRL (cm) (r = 0.716, P < 0.001); BSOB (mm) = -0.277 + 0.719 × CRL (cm) (r = 0.829, P < 0.001); BS/BSOB = 0.747—0.021 × CRL (cm) (r = 0.196, P < 0.001). Conclusions Qualitative and quantitative assessment of the fetal posterior fossa structure was feasible in the first trimester. We constructed the normal reference ranges of CM, IT, BS, BSOB, and BS/BSOB. Furthermore, CM, IT, BS, and BSOB were positively correlated with CRL, but BS/BSOB was negatively correlated with CRL.
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Affiliation(s)
- Li Feng
- Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, P. R. China.,Beijing Maternal and Child Health Care Hospital, Beijing, P. R. China
| | - Lijuan Sun
- Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, P. R. China.,Beijing Maternal and Child Health Care Hospital, Beijing, P. R. China
| | - Jingjing Wang
- Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, P. R. China.,Beijing Maternal and Child Health Care Hospital, Beijing, P. R. China
| | - Congxin Sun
- Shijiazhuang Obstetrics and Gynecology Hospital, Shijiazhuang, P. R. China
| | - Lijuan Lu
- Kunming Maternity and Child Care Hospital, Kunming, P. R. China
| | - Zhikun Zhang
- Tianjin Central Hospital of Gynecology Obstetrics, Tianjin, P. R. China
| | - Yu Hu
- Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, P. R. China.,Beijing Maternal and Child Health Care Hospital, Beijing, P. R. China
| | - Qingqing Wu
- Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, P. R. China. .,Beijing Maternal and Child Health Care Hospital, Beijing, P. R. China. .,Department Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, No. 251 Yaojiayuan Road, Chaoyang District, 100026, Beijing , P. R. China.
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10
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Yang Z, Liu F, Xi J, Chen L, Zhou L, Lin Y. Non-visualization of choroid plexus of fourth ventricle in first-trimester as abnormal clue to Noonan syndrome with agenesis of corpus callosum. ULTRASOUND IN OBSTETRICS & GYNECOLOGY : THE OFFICIAL JOURNAL OF THE INTERNATIONAL SOCIETY OF ULTRASOUND IN OBSTETRICS AND GYNECOLOGY 2022; 60:292-294. [PMID: 35229917 DOI: 10.1002/uog.24882] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 11/07/2021] [Revised: 02/11/2022] [Accepted: 02/16/2022] [Indexed: 06/14/2023]
Affiliation(s)
- Z Yang
- Department of Ultrasound, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China
| | - F Liu
- Department of Ultrasound, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China
| | - J Xi
- Department of Ultrasound, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China
| | - L Chen
- Department of Ultrasound, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China
| | - L Zhou
- Department of Ultrasound, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China
| | - Y Lin
- Department of Obstetrics and Gynecology, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China
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Birnbaum R, Barzilay R, Brusilov M, Acharya P, Malinger G, Krajden Haratz K. Early second-trimester three-dimensional transvaginal neurosonography of fetal midbrain and hindbrain: normative data and technical aspects. ULTRASOUND IN OBSTETRICS & GYNECOLOGY : THE OFFICIAL JOURNAL OF THE INTERNATIONAL SOCIETY OF ULTRASOUND IN OBSTETRICS AND GYNECOLOGY 2022; 59:317-324. [PMID: 34002885 DOI: 10.1002/uog.23691] [Citation(s) in RCA: 5] [Impact Index Per Article: 1.7] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 02/06/2021] [Revised: 04/11/2021] [Accepted: 05/09/2021] [Indexed: 06/12/2023]
Abstract
OBJECTIVES To provide a detailed description of the sonographic appearance and development of various fetal structures of the midbrain and hindbrain (MBHB) during the early second trimester, and to evaluate the impact of the frequency of the transvaginal sonography (TVS) transducer on the early recognition of these structures. METHODS This was a retrospective analysis of three-dimensional volumetric datasets of the MBHB from apparently normal fetuses at 14-19 gestational weeks, acquired by TVS in the midsagittal view through the posterior fontanelle. Using a multiplanar approach, we measured the tectal thickness and length, aqueductal thickness, tegmental thickness and width and height of the Blake's pouch (BP) neck. In addition, we assessed the existence of early vermian fissures, the linear shape of the brainstem and the components of the fastigium. The correlation between gestational age according to last menstrual period and sonographic measurements of MBHB structures was evaluated using Pearson's correlation (r). A subanalysis was performed to assess the performance of a 5-9-MHz vs a 6-12-MHz TVS transducer in visualizing the MBHB structures in the early second trimester. RESULTS Sixty brain volumes were included in the study, obtained at a mean gestational age of 16.2 weeks (range, 14.1-19.0 weeks), with a transverse cerebellar diameter range of 13.0-19.8 mm. We found a strong correlation between gestational age and all MBHB measurements, with the exception of the tectal, tegmental and aqueductal thicknesses, for which the correlation was moderate. There was good-to-excellent intraobserver and moderate-to-good interobserver correlation for most MBHB measurements. We observed that the BP neck was patent in all fetuses between 14 and 18 weeks with decreasing diameter, and that the aqueductal thickness was significantly smaller at ≥ 18 weeks compared with at < 16 weeks. The early vermian fissures and the linear shape of the brainstem were present in all fetuses from 14 weeks. We found that, in the early second trimester, the horizontal arm of the presumed 'fastigium' evolves from the fourth ventricular choroid plexus and not the posterior vermis, indicating that this is not the fastigium. Standard- and high-resolution TVS transducers performed similarly in the assessment of MBHB anatomy. CONCLUSION Detailed early second-trimester assessment of the MBHB is feasible by transvaginal neurosonography and provides reference data which may help in the early detection of brain pathology involving the MBHB. © 2021 International Society of Ultrasound in Obstetrics and Gynecology.
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Affiliation(s)
- R Birnbaum
- Ob-Gyn Ultrasound Unit, Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel
- Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
| | - R Barzilay
- Lifespan Brain Institute, Penn Medicine and Children's Hospital of Philadelphia (CHOP), Philadelphia, PA, USA
| | - M Brusilov
- Ob-Gyn Ultrasound Unit, Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel
- Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
| | - P Acharya
- Paras Advanced Center for Fetal Medicine, Ahmedabad, India
| | - G Malinger
- Ob-Gyn Ultrasound Unit, Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel
- Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
| | - K Krajden Haratz
- Ob-Gyn Ultrasound Unit, Lis Maternity Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel
- Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
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Volpe P, De Robertis R, Fanelli T, Boito S, Volpe G, Votino C, Persico N, Chaoui R. Low torcular Herophili position and large brainstem-tentorium angle in fetuses with open spinal dysraphism at 11-13 weeks' gestation. ULTRASOUND IN OBSTETRICS & GYNECOLOGY : THE OFFICIAL JOURNAL OF THE INTERNATIONAL SOCIETY OF ULTRASOUND IN OBSTETRICS AND GYNECOLOGY 2022; 59:49-54. [PMID: 34125985 DOI: 10.1002/uog.23697] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 03/19/2021] [Revised: 05/03/2021] [Accepted: 05/21/2021] [Indexed: 05/21/2023]
Abstract
OBJECTIVE To evaluate whether in fetuses with open spina bifida (OSB) the tentorium can be seen to be displaced downwards and vertically oriented by the time of the 11-13-week scan and whether this is reflected in an alteration of the brainstem-tentorium (BST) angle. METHODS The study population was recruited between 2015 and 2020 from three fetal medicine referral centers and comprised a control group and a study group of pregnancies with OSB. The control group was recruited prospectively and included singleton pregnancies with a normal sonographic examination after first-trimester combined screening for chromosomal abnormalities and normal outcome. The study group was selected retrospectively and included all cases with OSB between 2015 and 2020. All cases underwent detailed ultrasound assessment at 11 + 0 to 13 + 6 weeks' gestation. The position of the torcular Herophili (TH) was identified in the midsagittal view of the fetal brain with the use of color Doppler and was considered as a proxy for the insertion of the tentorium on the fetal skull. The BST angle was calculated in the same view and was compared between the two groups. RESULTS Sixty normal fetuses were included in the control group and 22 fetuses with OSB in the study group. In both groups, the BST angle was found to be independent of gestational age or crown-rump length (P = 0.8815, R2 = 0.0003861 in the controls, and P = 0.2665, R2 = 0.00978 in the OSB group). The mean BST angle was 48.7 ± 7.8° in controls and 88.1 ± 1.18°, i.e. close to 90°, in fetuses with OSB. Comparison of BST-angle measurements between the control group and cases with OSB showed a statistically significant difference (P = 0.0153). In all fetuses with OSB, the downward displacement of the TH and tentorium was clearly visible at the 11-13-week scan. CONCLUSIONS In fetuses with OSB, the BST angle is significantly larger than in normal controls, with the tentorium being almost perpendicular to the brainstem. This sign confirms the inferior displacement of the tentorium cerebelli with respect to its normal insertion on the occipital clivus as early as the first trimester of pregnancy and is useful in the diagnosis of Chiari-II malformation at this early stage. In fetuses with OSB, the low position of the tentorium and TH is clearly visible, even subjectively, at the 11-13-week scan. © 2021 International Society of Ultrasound in Obstetrics and Gynecology.
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Affiliation(s)
- P Volpe
- Fetal Medicine Unit, Di Venere and Sarcone Hospitals, ASL, BA, Bari, Italy
| | - R De Robertis
- Fetal Medicine Unit, Di Venere and Sarcone Hospitals, ASL, BA, Bari, Italy
| | - T Fanelli
- Fetal Medicine Unit, Di Venere and Sarcone Hospitals, ASL, BA, Bari, Italy
| | - S Boito
- Fetal Medicine and Surgery Service, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy
| | - G Volpe
- Fetal Medicine and Surgery Service, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy
| | - C Votino
- Fetal Medicine Unit, Di Venere and Sarcone Hospitals, ASL, BA, Bari, Italy
| | - N Persico
- Fetal Medicine and Surgery Service, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy
- Department of Clinical Science and Community Health, University of Milan, Milan, Italy
| | - R Chaoui
- Center for Prenatal Diagnosis and Human Genetics, Berlin, Germany
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13
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Eric Ozdemir M, Demirci O, Ayvaci Tasan H, Ohanoglu K, Akalin M. The importance of first trimester screening of cranial posterior fossa in predicting posterior fossa malformations which may be identified in the following weeks of gestation. JOURNAL OF CLINICAL ULTRASOUND : JCU 2021; 49:958-962. [PMID: 34403530 DOI: 10.1002/jcu.23057] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 10/29/2020] [Revised: 08/03/2021] [Accepted: 08/04/2021] [Indexed: 06/13/2023]
Abstract
PURPOSE We aimed to investigate the value of posterior fossa ultrasonography measurements in predicting fetal posterior fossa anomaly at 11-14 weeks of gestation. METHODS The study was performed at Zeynep Kamil Women and Children's Diseases Training and Research Hospital. Measurements were made in two groups: the control group consisted of 328 fetuses with normal postnatal outcome and the study group consisted of 22 fetuses with enlarged 4th ventricle. In the study group, we questioned the value of intracranial translucency (IT) and brainstem (BS) measurements and the BS/brainstem-to-occipital bone (BSOB) ratio in order to predict possible posterior fossa anomalies that may be identified in advanced gestational weeks. The differences of ultrasonographic measurements between groups with p < 0.05 were considered statistically significant. RESULTS IT value, BSOB value, and BS/BSOB ratio were determined as ultrasonographic variables in predicting normal development of the fetal posterior fossa, with cutoff values of 2.7, 5.1, and 0.3. Negative predictive values of these three measurements for posterior fossa abnormalities were 100%. There was no statistically significant difference between the three variables for other diagnostic accuracy values (specifities and positive predictive values) (p > 0.05). CONCLUSION IT, BSOB, and BS/BSOB ratio can be used as ultrasonographic markers to predict the normal development of the fetal posterior fossa.
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Affiliation(s)
- Mucize Eric Ozdemir
- Perinatology Department, Health Science University, Zeynep Kamil Women and Children's Diseases Training and Research Hospital, Istanbul, Turkey
| | - Oya Demirci
- Perinatology Department, Health Science University, Zeynep Kamil Women and Children's Diseases Training and Research Hospital, Istanbul, Turkey
| | - Habibe Ayvaci Tasan
- Perinatology Department, Health Science University, Zeynep Kamil Women and Children's Diseases Training and Research Hospital, Istanbul, Turkey
| | - Karolin Ohanoglu
- Obstetrics and Gynaecology Department, Basaksehir Cam and Sakura City Hospital, Istanbul, Turkey
| | - Munip Akalin
- Perinatology Department, Health Science University, Zeynep Kamil Women and Children's Diseases Training and Research Hospital, Istanbul, Turkey
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14
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Volpe P, De Robertis V, Volpe G, Boito S, Fanelli T, Olivieri C, Votino C, Persico N. Position of the choroid plexus of the fourth ventricle in first- and second-trimester fetuses: a novel approach to early diagnosis of cystic posterior fossa anomalies. ULTRASOUND IN OBSTETRICS & GYNECOLOGY : THE OFFICIAL JOURNAL OF THE INTERNATIONAL SOCIETY OF ULTRASOUND IN OBSTETRICS AND GYNECOLOGY 2021; 58:568-575. [PMID: 33847428 DOI: 10.1002/uog.23651] [Citation(s) in RCA: 18] [Impact Index Per Article: 4.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 01/20/2021] [Revised: 03/09/2021] [Accepted: 03/17/2021] [Indexed: 06/12/2023]
Abstract
OBJECTIVE To describe the sonographic appearance and position of the choroid plexus of the fourth ventricle (4V-CP) between 12 and 21 weeks' gestation in normal fetuses and in fetuses with Dandy-Walker malformation (DWM) or Blake's pouch cyst (BPC). METHODS The study population comprised 90 prospectively recruited normal singleton pregnancies and 41 pregnancies identified retrospectively from our institutional database that had a suspected posterior fossa anomaly at 12-13 weeks' gestation based on the ultrasound finding of abnormal hindbrain spaces. In all cases the final diagnosis was confirmed by prenatal and/or postnatal magnetic resonance imaging or postmortem examination. All pregnancies underwent a detailed ultrasound assessment, including a dedicated examination of the posterior fossa, at 12-13 weeks, 15-16 weeks and 20-21 weeks of gestation. Two-dimensional ultrasound images of the midsagittal and coronal views of the brain through the posterior fontanelle and three-dimensional volume datasets were obtained. Multiplanar orthogonal image correlation with volume contrast imaging was used as the reference visualization mode. Two independent operators, blinded to the fetal outcome, were asked to classify the 4V-CP as visible or not visible in both normal and abnormal cases, and to assess if the 4V-CP was positioned inside or outside the cyst in fetuses with DWM and BPC. RESULTS Of the 41 fetuses with apparently isolated cystic posterior fossa anomaly in the first trimester, eight were diagnosed with DWM, 29 were diagnosed with BPC and four were found to be normal in the second trimester. The position of the 4V-CP differed between DWM, BPC and normal cases in the first- and second-trimester ultrasound examinations. In particular, in normal fetuses, no cyst was present and, in the midsagittal and coronal planes of the posterior fossa, the 4V-CP appeared as an echogenic oval-shaped structure located inside the 4V apparently attached to the cerebellar vermis. In fetuses with DWM, the 4V-CP was not visible in the midsagittal view because it was displaced inferolaterally by the cyst. In contrast, in the coronal view of the posterior brain, the 4V-CP was visualized in all cases with DWM at 12-13 weeks, with a moderate decrease in the visualization rate at 15-16 weeks (87.5%) and at 20-21 weeks (75%). In the coronal view, the 4V-CP was classified as being outside the cyst in all DWM cases at 12-13 weeks and in 87.5% and 75% of cases at 15-16 and 20-21 weeks, respectively. In fetuses with BPC, the 4V-CP was visualized in all cases in both the midsagittal and coronal views at 12-13 weeks and in 100% and 96.6% of cases, respectively, at 15-16 weeks. In the coronal view, the 4V-CP was classified as being inside the cyst in 28 (96.6%), 27 (93.1%) and 25 (86.2%) cases at 12-13, 15-16 and 20-21 weeks, respectively. The medial segment of the 4V-CP was visualized near the inferior part of the vermis. CONCLUSIONS Our study shows that longitudinal ultrasound assessment of the 4V-CP and its temporal changes from 12 to 21 weeks is feasible. The 4V-CP is located inside the cyst, just below the vermis, in BPC and outside the cyst, inferolaterally displaced and distant from the vermian margin, in DWM, consistent with the pathogenesis of the two conditions. The position of the 4V-CP is a useful sonographic marker that can help differentiate between DWM and BPC as early as in the first trimester of pregnancy. © 2021 International Society of Ultrasound in Obstetrics and Gynecology.
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Affiliation(s)
- P Volpe
- Fetal Medicine Unit, Di Venere and Sarcone Hospitals, Bari, Italy
| | - V De Robertis
- Fetal Medicine Unit, Di Venere and Sarcone Hospitals, Bari, Italy
| | - G Volpe
- Maternal Infant Department SC, Obstetrics and Gynecology, ASST Grande Ospedale Metropolitano Niguarda, Milan, Italy
| | - S Boito
- Department of Clinical Science and Community Health, University of Milan, Milan, Italy
| | - T Fanelli
- Fetal Medicine Unit, Di Venere and Sarcone Hospitals, Bari, Italy
| | - C Olivieri
- Fetal Medicine Unit, Di Venere and Sarcone Hospitals, Bari, Italy
| | - C Votino
- Fetal Medicine Unit, Di Venere and Sarcone Hospitals, Bari, Italy
| | - N Persico
- Department of Clinical Science and Community Health, University of Milan, Milan, Italy
- Fetal Medicine and Surgery Service, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy
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Pang B, Pan JJ, Li Q, Zhang X. Accuracy of ultrasonography in diagnosis of fetal central nervous system malformation. World J Clin Cases 2021; 9:8027-8034. [PMID: 34621859 PMCID: PMC8462195 DOI: 10.12998/wjcc.v9.i27.8027] [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: 04/15/2021] [Revised: 07/03/2021] [Accepted: 07/23/2021] [Indexed: 02/06/2023] Open
Abstract
BACKGROUND Prenatal examination is an important measure for the screening and diagnosis of fetal malformations.
AIM To investigate the accuracy of ultrasonography in the diagnosis of fetal central nervous system (CNS) malformations.
METHODS One hundred and thirteen pregnant women suspected of having fetal CNS malformations were examined at our hospital from December 2018 to October 2020 using two-dimensional ultrasonography and three-dimensional ultrasonography, respectively.
RESULTS According to the pathological results, there were 79 cases of CNS malformations and 34 cases of non-CNS malformations among the 113 pregnant women suspected of having fetal CNS malformation. Fifty-one cases of CNS malformation and 26 cases of non-CNS malformation were detected by two-dimensional ultrasonography, and 73 cases of CNS malformation and 30 cases of non-CNS malformation were detected by three-dimensional ultrasonography. The diagnostic sensitivity (92.41%) and accuracy (91.15%) of three-dimensional ultrasonography were higher than those of two-dimensional ultrasonography (64.56% and 68.14%, respectively) (P = 0.000). The specificity of three-dimensional ultrasonography (88.24%) was higher than that of two-dimensional ultrasonography (76.47%); however, the difference was not significant (P = 0.203).
CONCLUSION Three-dimensional ultrasonography has high application value in the diagnosis of fetal CNS malformations. In addition, the image quality is clear, and the diagnostic sensitivity and accuracy are high.
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Affiliation(s)
- Bo Pang
- Department of Ultrasound, The First Affiliated Hospital of Wannan Medical College, Wuhu 241000, Anhui Province, China
| | - Jing-Jing Pan
- Department of Neurosurgery, The Second People’s Hospital of Wuhu, Wuhu 241000, Anhui Province, China
| | - Qin Li
- Department of Gynaecology and Obstetrics, The First Affiliated Hospital of Wannan Medical College, Wuhu 241000, Anhui Province, China
| | - Xia Zhang
- Department of Ultrasound, The First Affiliated Hospital of Wannan Medical College, Wuhu 241000, Anhui Province, China
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AIUM Practice Parameter for the Performance of Detailed Diagnostic Obstetric Ultrasound Examinations Between 12 Weeks 0 Days and 13 Weeks 6 Days. JOURNAL OF ULTRASOUND IN MEDICINE : OFFICIAL JOURNAL OF THE AMERICAN INSTITUTE OF ULTRASOUND IN MEDICINE 2021; 40:E1-E16. [PMID: 32852128 DOI: 10.1002/jum.15477] [Citation(s) in RCA: 13] [Impact Index Per Article: 3.3] [Reference Citation Analysis] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 08/03/2020] [Accepted: 08/04/2020] [Indexed: 06/11/2023]
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Kalafat E, Ting L, Thilaganathan B, Papageorghiou AT, Khalil A. Diagnostic accuracy of fetal choroid plexus length to head biometry ratio at 11 to 13 weeks for open spina bifida. Am J Obstet Gynecol 2021; 224:294.e1-294.e14. [PMID: 32841630 DOI: 10.1016/j.ajog.2020.08.058] [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: 06/27/2020] [Revised: 08/10/2020] [Accepted: 08/20/2020] [Indexed: 11/20/2022]
Abstract
BACKGROUND Open spina bifida is a major congenital anomaly with an estimated incidence of <1 in 1000. The diagnosis of open spina bifida is usually made during the second trimester, but first-trimester detection rate of spina bifida is increasingly reported. Recently, the mean choroid plexus length to occipitofrontal diameter ratio was reported to be increased in fetuses with open spina bifida. The ratio reflects the so-called dry brain effect caused by cerebrospinal fluid leakage and expansion of the choroid plexus into the lateral ventricles. The mean choroid plexus length to occipitofrontal diameter ratio appears to be a promising tool for early detection of open spina bifida, but its diagnostic accuracy is yet to be determined in a large cohort. OBJECTIVE This study aimed to assess the predictive accuracy of mean choroid plexus length to occipitofrontal diameter ratio recorded at 11 to 13 weeks' gestation for the detection of open spina bifida. STUDY DESIGN This was a retrospective cohort of patients treated in a tertiary referral center. Fetuses in which open spina bifida was detected at 16 to 24 weeks' gestation and normal fetuses were included in the cohort. Biparietal diameter and occipitofrontal diameter were measured in an axial view. The length of choroid plexus was measured along its longest diameter in the same plane. Ultrasound images were examined offline, and the operator was blinded to the clinical diagnosis. The predictive accuracy was evaluated using the area under the curve and positive and negative predictive values. RESULTS We included 3300 pregnant women, of whom 24 (0.73%) had the fetuses affected by open spina bifida. The area under the curve values were 0.921 for mean choroid plexus length to occipitofrontal diameter ratio and 0.933 for its multiple of the median. Mean choroid plexus length to biparietal diameter ratio indicated similar results, with area under the curve values of 0.928 and 0.931 for raw ratio and multiple of the median ratio models, respectively. The optimal cutoffs of the mean choroid plexus to occipitofrontal diameter ratio and multiple of the median ratios were 0.662 and 1.263, respectively. The optimal mean choroid plexus to occipitofrontal diameter ratio and multiple of the median ratio cutoffs provided a positive predictive value of 90.9% and a negative predictive value of 99.6%. The number of affected spinal segments was significantly higher in fetuses with a ratio above 0.662 (P=.022). CONCLUSION The mean choroid plexus length to occipitofrontal diameter ratio at 11 to 13 weeks' gestation is a promising tool for the prenatal detection of open spina bifida.
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Affiliation(s)
- Erkan Kalafat
- Fetal Medicine Unit, St George's Hospital, St George's University of London, London, United Kingdom; Department of Statistics, Faculty of Arts and Sciences, Middle East Technical University, Ankara, Turkey; Department of Obstetrics and Gynecology, Faculty of Medicine, Ankara University, Ankara, Turkey
| | - Lei Ting
- Fetal Medicine Unit, St George's Hospital, St George's University of London, London, United Kingdom
| | - Basky Thilaganathan
- Fetal Medicine Unit, St George's Hospital, St George's University of London, London, United Kingdom; Vascular Biology Research Centre, Molecular and Clinical Sciences Research Institute, St George's University of London, London, United Kingdom
| | - Aris T Papageorghiou
- Fetal Medicine Unit, St George's Hospital, St George's University of London, London, United Kingdom
| | - Asma Khalil
- Fetal Medicine Unit, St George's Hospital, St George's University of London, London, United Kingdom; Vascular Biology Research Centre, Molecular and Clinical Sciences Research Institute, St George's University of London, London, United Kingdom.
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Volpe N, Dall'Asta A, Di Pasquo E, Frusca T, Ghi T. First-trimester fetal neurosonography: technique and diagnostic potential. ULTRASOUND IN OBSTETRICS & GYNECOLOGY : THE OFFICIAL JOURNAL OF THE INTERNATIONAL SOCIETY OF ULTRASOUND IN OBSTETRICS AND GYNECOLOGY 2021; 57:204-214. [PMID: 33049801 DOI: 10.1002/uog.23149] [Citation(s) in RCA: 30] [Impact Index Per Article: 7.5] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 06/25/2020] [Accepted: 08/04/2020] [Indexed: 06/11/2023]
Abstract
Most brain abnormalities are present in the first trimester, but only a few are detected so early in gestation. According to current recommendations for first-trimester ultrasound, the fetal head structures that should be visualized are limited to the cranial bones, the midline falx and the choroid-plexus-filled ventricles. Using this basic approach, almost all cases of acrania, alobar holoprosencephaly and cephalocele are detected. However, the majority of other fetal brain abnormalities remain undiagnosed until the midtrimester. Such anomalies would be potentially detectable if the sonographic study were to be extended to include additional anatomic details not currently included in existing guidelines. The aim of this review article is to describe how best to assess the normal fetal brain by first-trimester expert multiplanar neurosonography and to demonstrate the early sonographic findings that characterize some major fetal brain abnormalities. © 2020 International Society of Ultrasound in Obstetrics and Gynecology.
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Affiliation(s)
- N Volpe
- Department of Medicine and Surgery, Unit of Surgical Sciences, Obstetrics and Gynecology, University of Parma, Parma, Italy
| | - A Dall'Asta
- Department of Medicine and Surgery, Unit of Surgical Sciences, Obstetrics and Gynecology, University of Parma, Parma, Italy
| | - E Di Pasquo
- Department of Medicine and Surgery, Unit of Surgical Sciences, Obstetrics and Gynecology, University of Parma, Parma, Italy
| | - T Frusca
- Department of Medicine and Surgery, Unit of Surgical Sciences, Obstetrics and Gynecology, University of Parma, Parma, Italy
| | - T Ghi
- Department of Medicine and Surgery, Unit of Surgical Sciences, Obstetrics and Gynecology, University of Parma, Parma, Italy
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Mace P, Mancini J, Gorincour G, Quarello E. Accuracy of qualitative and quantitative cranial ultrasonographic markers in first-trimester screening for open spina bifida and other posterior brain defects: a systematic review and meta-analysis. BJOG 2020; 128:354-365. [PMID: 32966672 DOI: 10.1111/1471-0528.16530] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 09/14/2020] [Indexed: 11/27/2022]
Abstract
BACKGROUND The significant number of qualitative and quantitative ultrasound markers described for first-trimester screening of open spina bifida (OSB) and other posterior brain defects (oPBD) has resulted in their complex implementation and interpretation for a widespread screening and in a lack of consensus regarding diagnostic accuracy. OBJECTIVES To assess and compare the accuracy of qualitative and quantitative cranial sonographic markers at 11-14 weeks of gestation for the detection of OSB and oPBD. SEARCH STRATEGY A systematic literature search was performed in MEDLINE and COCHRANE from 2009 to April 2020. SELECTION CRITERIA Studies assessing the diagnostic accuracy of quantitative and/or qualitative ultrasound signs to predict OSB and oPBD were included. Cohort studies and case-control studies were also considered. DATA COLLECTION AND ANALYSIS Two reviewers independently extracted data and assessed the risk of bias. The overall pooled estimate and a summary receiver operating characteristic curve was estimated for each subgroup (qualitative and quantitative assessment). MAIN RESULTS Twenty-three studies were included in our meta-analysis. The pooled sensitivity and specificity for qualitative assessment were 76.5% and 99.6%, and for quantitative assessment were 84.5% and 96.3%, respectively; specificity for the qualitative ultrasound signs was significantly higher (P = 0.001). The overall sensitivity of cranial sonographic markers for the screening of oPBD was 76.7% and specificity was 97.5%. CONCLUSIONS The qualitative approach demonstrated greater specificity, so this would appear to be more appropriate for daily screening, as a first-line tool, whereas the quantitative approach should be reserved for expert ultrasound. TWEETABLE ABSTRACT This study highlights the relevance of first-trimester qualitative ultrasound signs in the screening of open spina bifida.
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Affiliation(s)
- P Mace
- Institut méditerranéen d'imagerie médicale appliquée à la gynécologie, la grossesse et l'enfance IMAGE2, Marseille, France.,Unité de dépistage et de diagnostic prénatal, Hôpital Privé Marseille Beauregard, Marseille, France
| | - J Mancini
- Public Health Department (BIOSTIC), APHM, INSERM, IRD, SESSTIM, Hop Timone, Aix Marseille Univ, Marseille, France
| | - G Gorincour
- Institut méditerranéen d'imagerie médicale appliquée à la gynécologie, la grossesse et l'enfance IMAGE2, Marseille, France.,Elsan, Clinique Bouchard, Marseille, France
| | - E Quarello
- Institut méditerranéen d'imagerie médicale appliquée à la gynécologie, la grossesse et l'enfance IMAGE2, Marseille, France.,Elsan, Clinique Bouchard, Marseille, France
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20
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Chaoui R, Benoit B, Entezami M, Frenzel W, Heling KS, Ladendorf B, Pietzsch V, Sarut Lopez A, Karl K. Ratio of fetal choroid plexus to head size: simple sonographic marker of open spina bifida at 11-13 weeks' gestation. ULTRASOUND IN OBSTETRICS & GYNECOLOGY : THE OFFICIAL JOURNAL OF THE INTERNATIONAL SOCIETY OF ULTRASOUND IN OBSTETRICS AND GYNECOLOGY 2020; 55:81-86. [PMID: 31559662 DOI: 10.1002/uog.20856] [Citation(s) in RCA: 18] [Impact Index Per Article: 3.6] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Subscribe] [Scholar Register] [Received: 07/03/2019] [Revised: 08/13/2019] [Accepted: 08/20/2019] [Indexed: 06/10/2023]
Abstract
OBJECTIVES To measure the ratio of choroid plexus (CP) size to head size in normal fetuses and to compare it to that in fetuses with open spina bifida (OSB) and quantify the subjective sign of a 'dry brain'. METHODS This was a retrospective study of ultrasound images, obtained during first-trimester screening between 11 and 13 weeks of gestation, from 34 fetuses with OSB and 160 normal fetuses. From the hospital databases, we retrieved images of the fetal head in the transventricular axial plane. We measured the areas of both CPs and the head and calculated the ratio between them. We also measured the longest diameter of each CP and calculated their mean (CP length), and measured the occipitofrontal diameter (OFD) and calculated the ratio of CP length to OFD. Measurements from the OSB fetuses were plotted on crown-rump length (CRL) reference ranges constructed using data from the normal fetuses, and Z-scores were calculated. RESULTS In the normal fetuses, the CP area increased, while the ratios of CP area to head area and CP length to OFD decreased, with increasing CRL. In 30 of the 34 (88%) fetuses with OSB, both ratios were increased significantly and the CPs filled the entirety of the head, giving the impression of a dry brain. In these cases, the borders of the lateral ventricles could not be identified. CONCLUSIONS At 11-13 weeks, the majority of fetuses with OSB have reduced fluid in the lateral ventricles such that the CPs fill the head. The dry brain sign is easily visualized during routine first-trimester ultrasound examination while measuring the biparietal diameter, and can be quantified by comparing the size of the CPs to the head size. Until prospective data confirm the usefulness of this sign in screening for OSB, it should be considered as a hint to prompt the examiner to assess thoroughly the posterior fossa and spine. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.
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Affiliation(s)
- R Chaoui
- Center for Prenatal Diagnosis and Human Genetics, Berlin, Germany
| | - B Benoit
- Department of Obstetrics and Gynecology, Princess Grace Hospital, Monaco
| | - M Entezami
- Center for Prenatal Diagnosis, Berlin, Germany
| | - W Frenzel
- Center for Prenatal Diagnosis and Human Genetics, Berlin, Germany
| | - K S Heling
- Center for Prenatal Diagnosis and Human Genetics, Berlin, Germany
| | - B Ladendorf
- Center for Prenatal Diagnosis and Human Genetics, Berlin, Germany
| | - V Pietzsch
- Prenatal Diagnosis Clinic, Waiblingen, Germany
| | - A Sarut Lopez
- Center for Prenatal Diagnosis and Human Genetics, Berlin, Germany
| | - K Karl
- Department of Obstetrics and Gynecology, Ludwig-Maximilians University, Munich, Germany
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21
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Pauta M, Grande M, Borobio V, Illanes C, Soler A, Nogué L, Borrell A. Is Cisterna Magna Width a Useful First-Trimester Marker of Aneuploidy? Fetal Diagn Ther 2019; 47:457-463. [PMID: 31694020 DOI: 10.1159/000503386] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/24/2019] [Accepted: 09/06/2019] [Indexed: 11/19/2022]
Abstract
OBJECTIVE To assess whether the cisterna magna (CM) width measured in first-trimester fetuses is a useful marker for aneuploidy detection. METHODS This was a prospective study in 2 different cohorts in a tertiary referral center. The first cohort comprised 913 fetuses from the general pregnancy population during the period 2012-2016 and was used to construct the CM reference ranges applying the λ-μ-σ (LMS) method. The second cohort included 714 high-risk fetuses undergoing chorionic villus sampling during the period 2012-2016. Mean detection rates using the 95th percentile for CM width observed in chromosomal anomaly groups were compared with those obtained in chromosomally normal fetuses. RESULTS The 50th percentile for CM ranged from 1.66 to 2.75 mm when crown-rump length (CRL) increased from 45 to 84 mm. Among high-risk fetuses, the following chromosomal anomalies were diagnosed in 125 (17%) fetuses: trisomy 21 (n = 63), trisomy 18 or 13 (n = 21), monosomy X (n = 9), submicroscopic anomalies (n = 11), and other anomalies (n = 22). The mean CM width for euploid fetuses was 2.4 mm (1.13 multiples of the median, MoM). While CM width was significantly increased in trisomy 21 (mean 2.7 mm; 1.23 MoM; p > 0.05), no differences were found in the other anomaly groups. Among the 63 fetuses with trisomy 21, a CM width above the 99th percentile was observed in 23 fetuses (37%). CONCLUSIONS The new reference range for CM width at 11-13 weeks of gestation did not differ from previous studies. In first-trimester fetuses with trisomy 21, CM width appears to be increased, although its value as an ultrasound marker is limited, because of its detection rate of 37%.
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Affiliation(s)
- Montse Pauta
- BCNatal, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain
| | - Maribel Grande
- BCNatal, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain
| | - Virginia Borobio
- Department of Maternal-Fetal Medicine, BCNatal, Institute of Gynecology, Obstetrics, and Neonatology, Hospital Clínic de Barcelona, Barcelona, Spain
| | - Carmen Illanes
- Department of Maternal-Fetal Medicine, BCNatal, Institute of Gynecology, Obstetrics, and Neonatology, Hospital Clínic de Barcelona, Barcelona, Spain
| | - Anna Soler
- Servei de Bioquímica i Genètica Molecular, CDB, Hospital Clínic de Barcelona, Barcelona, Spain
| | - Laura Nogué
- Department of Maternal-Fetal Medicine, BCNatal, Institute of Gynecology, Obstetrics, and Neonatology, Hospital Clínic de Barcelona, Barcelona, Spain
| | - Antoni Borrell
- Department of Maternal-Fetal Medicine, BCNatal, Institute of Gynecology, Obstetrics, and Neonatology, Hospital Clínic de Barcelona, Barcelona, Spain,
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22
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Struksnæs C, Blaas HGK, Vogt C. Autopsy Findings of Central Nervous System Anomalies in Intact Fetuses Following Termination of Pregnancy After Prenatal Ultrasound Diagnosis. Pediatr Dev Pathol 2019; 22:546-557. [PMID: 31256740 DOI: 10.1177/1093526619860385] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 01/26/2023]
Abstract
OBJECTIVES Central nervous system (CNS) anomalies are the second most frequent category of congenital anomalies after congenital heart defects (CHDs). In this study, the aim was to investigate the distribution of different CNS anomalies with associated anomalies and karyotype in a fetal autopsy population of terminated pregnancies over a 30-year period and to correlate the ultrasonographic diagnoses of CNS anomalies with autopsy findings. MATERIALS AND METHODS This study includes 420 intact fetuses with CNS anomalies terminated at gestational ages 11+ 0 to 33+ 6 over a 30-year period from 1985 to 2014. An ultrasound (US) examination was performed at the National Centre for Fetal Medicine, St. Olavs Hospital, Trondheim. The autopsies were performed at the Department of Pathology at the same hospital or a collaborating hospital. The anomalies were subcategorized according to the classification by the World Health Organization. RESULTS Neural tube defects such as anencephaly (22.4%, 107/477) and spina bifida (22.2%, 106/477) constituted the most common CNS anomalies, followed by congenital hydrocephalus (17.8%, 85/477). In total, the karyotype was abnormal in 21.0% of all termination of pregnancies (TOPs), with trisomy 18 as the most frequent abnormal karyotype. CHDs, skeletal anomalies, and urinary anomalies were the most common associated organ anomalies. Throughout the study period, there was full agreement between US and postmortem findings of CNS anomalies in 96.9% (407/420) of TOPs. CONCLUSION In this study of autopsy findings of CNS anomalies in intact fetuses terminated after prenatal US diagnosis, neural tube defects were most common. About half of the fetuses had isolated serious CNS anomalies, while the other half were CNS anomalies associated with structural and/or chromosomal anomalies. The prenatal US diagnoses were in good concordance with autopsy findings. In particular, due to challenges of diagnoses made early in pregnancy, it is necessary to continue the validation practice.
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Affiliation(s)
- Camilla Struksnæs
- Department of Clinical and Molecular Medicine, Faculty of Medicine and Health Sciences, Norwegian University of Science and Technology, Trondheim, Norway
| | - Harm-Gerd Karl Blaas
- Department of Clinical and Molecular Medicine, Faculty of Medicine and Health Sciences, Norwegian University of Science and Technology, Trondheim, Norway.,National Center for Fetal Medicine, Department of Obstetrics and Gynecology, St. Olavs Hospital, Trondheim University Hospital, Trondheim, Norway
| | - Christina Vogt
- Department of Clinical and Molecular Medicine, Faculty of Medicine and Health Sciences, Norwegian University of Science and Technology, Trondheim, Norway.,Department of Pathology, St. Olavs Hospital, Trondheim University Hospital, Trondheim, Norway
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23
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Altmann R, Schertler C, Scharnreitner I, Arzt W, Dertinger S, Scheier M. Diagnosis of Fetal Posterior Fossa Malformations in High-Risk Pregnancies at 12–14 Gestational Weeks by Transvaginal Ultrasound Examination. Fetal Diagn Ther 2019; 47:182-187. [DOI: 10.1159/000501500] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/25/2018] [Accepted: 06/12/2019] [Indexed: 11/19/2022]
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24
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Volpe P, Persico N, Fanelli T, De Robertis V, D'Alessandro J, Boito S, Pilu G, Votino C. Prospective detection and differential diagnosis of cystic posterior fossa anomalies by assessing posterior brain at 11-14 weeks. Am J Obstet Gynecol MFM 2019; 1:173-181. [PMID: 33345823 DOI: 10.1016/j.ajogmf.2019.06.004] [Citation(s) in RCA: 7] [Impact Index Per Article: 1.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/19/2019] [Revised: 05/31/2019] [Accepted: 06/04/2019] [Indexed: 12/26/2022]
Abstract
BACKGROUND The role of the first-trimester scan has expanded from aneuploidy screening to the diagnosis of fetal malformations. Abnormal appearance of the posterior brain at 11-14 weeks gestation is a marker of cerebral anomalies; in fact an increased amount of fluid, particularly when the choroid plexus of the fourth ventricle is not visible and only 2 brain spaces instead of 3 are seen, may indicate the presence of cystic or cyst-like posterior fossa anomalies, such as Blake's pouch cyst or Dandy-Walker malformation. OBJECTIVE The purpose of this study was to assess the role of ultrasound scanning in the identification of cystic posterior fossa anomalies at 11-14 weeks gestation. STUDY DESIGN A prospective cohort study of fetuses with cystic appearance of the posterior fossa at 11-14 weeks gestation was performed. In all cases and in a control group of 40 normal fetuses, the brainstem-tentorium angle was also measured. The presence or absence of cystic posterior anomalies was determined at birth or at postmortem evaluation. RESULTS In the period 2014-2018, 32 fetuses with an increased brainstem-occipital bone distance and/or failure to visualize the choroid plexus of fourth ventricle (2 brain spaces) were seen. Of these, 18 fetuses were terminated in the first trimester because of associated anomalies and were excluded from the study because of unavailable autoptic findings. The remaining 14 fetuses eventually were found to have a Dandy-Walker malformation in 4 cases, a Blake's pouch cyst in 8 cases, and normal brain anatomy in 2 cases. Two brain spaces were seen in all cases with Dandy-Walker malformation and in 2 of 8 cases with Blake's pouch cyst. Both brainstem-occipital bone measurement and brainstem-tentorium angle were significantly different in fetuses with Dandy-Walker malformation, Blake's pouch cyst, and control subjects (P<.0001). The brainstem-occipital bone z-scores of fetuses with Dandy-Walker malformation and Blake's pouch cyst were always +3 or more and +1.7 or more, respectively. The brainstem-tentorium angle z-scores were always -5 or less and -0.1 or less, respectively. CONCLUSION Our study confirms that sonography of the posterior brain at 11-14 weeks gestation allows the identification of cystic posterior fossa anomalies. A large brainstem-occipital bone predicts Dandy-Walker malformation or Blake's pouch cyst. The presence of 2 brain spaces and a small brainstem-tentorium angle are correlated significantly with the presence of Dandy-Walker malformation.
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Affiliation(s)
- Paolo Volpe
- Fetal Medicine Unit, Di Venere and Sarcone Hospitals, ASL BA, Bari, Italy.
| | - Nicola Persico
- Department of Clinical Science and Community Health, University of Milan, Milan, Italy
| | - Tiziana Fanelli
- Fetal Medicine Unit, Di Venere and Sarcone Hospitals, ASL BA, Bari, Italy
| | | | | | - Simona Boito
- Department of Clinical Science and Community Health, University of Milan, Milan, Italy
| | - Gianluigi Pilu
- Department of Obstetrics and Gynecology, University of Bologna, Bologna, Italy
| | - Carmela Votino
- Fetal Medicine Unit, Di Venere and Sarcone Hospitals, ASL BA, Bari, Italy
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25
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Garcia-Rodriguez R, Garcia-Delgado R, Romero-Requejo A, Medina-Castellano M, Garcia-Hernandez JA, Gonzalez-Martin JM, Sepulveda W. First-trimester cystic posterior fossa: reference ranges, associated findings, and pregnancy outcomes. J Matern Fetal Neonatal Med 2019; 34:933-942. [PMID: 31113257 DOI: 10.1080/14767058.2019.1622673] [Citation(s) in RCA: 6] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/26/2022]
Abstract
OBJECTIVE To report reference ranges for fetal cerebral posterior fossa measurements and to describe the sonographic findings, karyotype results, and pregnancy outcomes in fetuses presenting with cystic posterior fossa (CPF) in the first trimester of pregnancy. METHODS Two groups of patients undergoing first-trimester sonographic screening at 11-13 weeks' gestation were studied. The first (control group) consisted of 253 consecutive fetuses with normal posterior fossa, in which the brainstem (BS), fourth ventricle, cisterna magna, and BS-occipital bone (BS-OB) diameter were prospectively measured and the BS/BS-OB diameter ratio was calculated. The second (study group) consisted of 14 fetuses in which a CPF was detected. Information on sonographic findings, prenatal karyotype results, and pregnancy outcomes was obtained by reviewing ultrasound reports and medical records. The results from the two groups were then compared. RESULTS In the control group, the size of all posterior fossa structures increased and the BS/BS-OB diameter ratio slightly decreased as the pregnancy progressed. In the study group, the BS diameter did not differ significantly from the measurements obtained in the control group. However, the BS-OB diameter and the fourth ventricle were significantly larger (p < .05 and p < .001, respectively) in the study group than in the control group. Additionally, the cisterna magna was not identified in 13 of the 14 fetuses (93%) in the study group, in comparison to zero out of the 253 fetuses in the control group (p < .001). Finally, the BS/BS-OB diameter ratio was significantly smaller in the study group when compared with the control group (p < .05). Regarding pregnancy outcomes, 12 of the 14 (86%) affected pregnancies underwent elective termination (n = 11) or ended in an early intrauterine demise (n = 1) due to the associated chromosomal abnormalities or structural defects. The two fetuses with isolated CPF had a normal second-trimester scan and resulted in the delivery of healthy newborn infants. CONCLUSIONS The detection of a CPF in the first trimester is associated with a high rate of chromosomal and structural defects. By using normative data, early sonographic screening and detection of mildly and moderately abnormal cases is possible. Fetuses with isolated CPF require further study with a detailed second-trimester scan. This is essential in order to differentiate cases with poor and good perinatal outcomes. Finally, our data also demonstrate that the main sonographic tool when screening for CPF in the first trimester is the assessment of the fourth ventricle, which is significantly larger in abnormal cases as the result of the wide communication between the fourth ventricle and the cisterna magna.
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Affiliation(s)
- Raquel Garcia-Rodriguez
- Fetal Medicine Unit, Department of Obstetrics and Gynecology, Hospital Universitario Materno-Infantil de Canarias, Las Palmas de Gran Canaria, Spain
| | - Raquel Garcia-Delgado
- Fetal Medicine Unit, Department of Obstetrics and Gynecology, Hospital Universitario Materno-Infantil de Canarias, Las Palmas de Gran Canaria, Spain
| | - Azahar Romero-Requejo
- Fetal Medicine Unit, Department of Obstetrics and Gynecology, Hospital Universitario Materno-Infantil de Canarias, Las Palmas de Gran Canaria, Spain
| | - Margarita Medina-Castellano
- Fetal Medicine Unit, Department of Obstetrics and Gynecology, Hospital Universitario Materno-Infantil de Canarias, Las Palmas de Gran Canaria, Spain
| | - Jose Angel Garcia-Hernandez
- Fetal Medicine Unit, Department of Obstetrics and Gynecology, Hospital Universitario Materno-Infantil de Canarias, Las Palmas de Gran Canaria, Spain
| | | | - Waldo Sepulveda
- Fetal Imaging Unit, FETALMED - Maternal-Fetal Diagnostic Center, Santiago, Chile
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Tonni G, Grisolia G, Zampriolo P, Araujo Júnior E, Ruano R. Early Prenatal Diagnosis of Blakes' Pouch Cyst by 2D/3D Ultrasound with Cristal and Realistic Vue Application. Fetal Pediatr Pathol 2018; 37:216-221. [PMID: 29781742 DOI: 10.1080/15513815.2018.1467519] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 10/16/2022]
Abstract
INTRODUCTION Blake's pouch cyst (BPC) represents an abnormal development of the posterior membranous area of the fetal brain. MATERIAL AND METHODS Two- and three-dimensional ultrasound with Cristal and Realistic Vue were used to characterized the early prenatal diagnosis. RESULTS At 9 weeks and 5 days a ballooning in the posterior fossa and resulting in an enlarged intracranial translucency (IT) was detected by 3D ultrasound using Cristal Vue in "inversion" mode and Cristal plus Realistic Vue. In addition, an increased nuchal translucency (7 mm) due to septated cystic hygroma (SCHy) was an associated finding. Hydrops fetalis ensued and a chorionic villus sampling at 12 weeks revealed a 45,X monosomy with persisting BPC. Follow up scan were planned fortnightly. A spontaneous miscarriage occurred at 16 weeks. CONCLUSION Three-dimensional ultrasound with Cristal and Realistic Vue aided the prenatal diagnosis of BPC in the first trimester.
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Affiliation(s)
- Gabriele Tonni
- a Istituto di Ricerca a Carattere Clinico Scientifico, AUSL Reggio Emilia , Department of Obstetrics & Gynecology , Reggio Emilia , Italy
| | - Gianpaolo Grisolia
- b Azienda Socio Sanitaria Territoriale di Mantova , Department of Obstetrics and Gynecology, Carlo Poma Hospital , Mantova , Italy
| | - Paolo Zampriolo
- b Azienda Socio Sanitaria Territoriale di Mantova , Department of Obstetrics and Gynecology, Carlo Poma Hospital , Mantova , Italy
| | - Edward Araujo Júnior
- c Paulista School of Medicine, Federal University of São Paulo (UNIFESP) , São Paulo , Brazil
| | - Rodrigo Ruano
- d Mayo Clinic Minnesota , Division of Maternal-Fetal Medicine , Rochester , Minnesota , USA
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Principles of first trimester screening in the age of non-invasive prenatal diagnosis: screening for other major defects and pregnancy complications. Arch Gynecol Obstet 2017; 296:635-643. [DOI: 10.1007/s00404-017-4460-3] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 06/18/2017] [Accepted: 07/05/2017] [Indexed: 01/19/2023]
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