P05.13: Relationship between the ventricular size measured by prenatal ultrasound and postnatal outcome in fetuses with agenesis of the corpus callosum

Abstract Purpose To assess the anatomic variants, associated anomalies and postnatal outcome of fetuses with a prenatally diagnosed agenesis of ductus venosus (ADV). Materials and Methods Retrospective study of 119 cases with agenesis of ductus venosus diagnosed by prenatal ultrasound in two tertiary referral centers from 2006 to 2014. The type and location of the umbilical venous drainage site was noted. Charts were reviewed for associated structural or chromosomal anomalies, pregnancy outcome and postnatal course. Results In 24 cases (20.2 %) ADV was an isolated finding, while 95 cases (79.8 %) had associated anomalies. We identified 84 cases (70.6 %) with intrahepatic and 35 cases (29.4 %) with extrahepatic drainage of the umbilical vein. 58.8 % of neonates were alive at follow-up. There was no statistical association between drainage site and associated anomalies or outcome. Postnatal outcome was determined by the presence and severity of associated anomalies. There was no adverse outcome in the isolated group related to ADV. Overall, there were 6 persistent portosystemic shunts, 3 of them with a spontaneous closure, and one total agenesis of the portal venous system with lethal outcome. Conclusion Postnatal outcome in cases with ADV mainly depends on the presence of associated anomalies. In isolated cases the prognosis is generally good, but neonates with a prenatally diagnosed portosystemic shunt should be followed until its occlusion. Portal venous system agenesis is rare but should be ruled out on prenatal ultrasound.

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Prenatal Imaging Features and Postnatal Outcome of Short Corpus Callosum: A Series of 42 Cases

Fetal Diagnosis and Therapy ◽

10.1159/000512953 ◽

2021 ◽

Vol 48 (3) ◽

pp. 217-226

Author(s):

Caroline Bartholmot ◽

Sara Cabet ◽

Mona Massoud ◽

Jérôme Massardier ◽

Axel Fichez ◽

...

Keyword(s):

Corpus Callosum ◽

Developmental Disorders ◽

Biological Data ◽

Psychomotor Development ◽

Global Developmental Delay ◽

Imaging Features ◽

Prenatal Counselling ◽

Prenatal Imaging ◽

Postnatal Outcome ◽

The One

Objectives: Our goal was to provide a better understanding of isolated short corpus callosum (SCC) regarding prenatal diagnosis and postnatal outcome. Methods: We retrospectively reviewed prenatal and postnatal imaging, clinical, and biological data from 42 cases with isolated SCC. Results: Prenatal imaging showed SCC in all cases (n = 42). SCC was limited to rostrum and/or genu and/or splenium in 21 cases, involved body in 16 cases, and was more extensive in 5 cases. Indirect imaging features included typical buffalo horn ventricles (n = 14), septal dysmorphism (n = 14), parallel lateral ventricles (n = 12), and ventriculomegaly (n = 4), as well as atypical features in 5 cases. SCC was associated with interhemispheric cysts and pericallosal lipomas in 3 and 6 cases, respectively. Aneuploidy was found in 2 cases. Normal psychomotor development, mild developmental disorders, and global developmental delay were found in 70, 15, and 15% of our cases, respectively. Conclusions: SCC should be investigated to look for pericallosal lipoma and typical versus atypical indirect features of corpus callosum agenesis (CCA). Prenatal counselling should be guided by imaging as well as clinical and genetic context. Outcome of patients with SCC was similar to the one presenting with complete CCA.

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Prenatal Diagnosis of Corpus Callosum Agenesis in Four Fetuses

10.21203/rs.3.rs-51748/v1 ◽

2020 ◽

Author(s):

Jiao Zheng ◽

Tingting Song ◽

Jia Li ◽

Ying Xu ◽

Pengfei Liu ◽

...

Keyword(s):

Prenatal Diagnosis ◽

Corpus Callosum ◽

Chromosomal Abnormalities ◽

Ultrasound Examination ◽

Prenatal Ultrasound ◽

Chromosomal Microarray ◽

Case Presentation ◽

Corpus Callosum Agenesis ◽

Main Pathway ◽

Chromosome Microarray

Abstract Background: The corpus callosum is the main pathway connect the interhemispheric communication. Corpus callosum agenesis from asymptomatic to mild or severe neurodevelopmental disorders. However, few cases have been previously reported in the literature on prenatal diagnosis between corpus callosum agenesis and chromosomes abnormality. The study included prenatal diagnosis of 4 fetuses in whom prenatal ultrasound showed corpus callosum abnormality, isolated or associated with other central nervous lesions.Case presentation: Prenatal diagnoses of four children were summarized in our case. The routine prenatal ultrasound examination showed abnormal morphology of corpus callosum in fetus 1, dysplasia of the corpus callosum in fetus 3, the corpus callosum absence in fetus 2 and fetus 4, and fetus 4 also had cardiac abnormalities. Chromosomal microarray and G-band karyotype analysis were performed to provide genetic analysis of amniotic fluid. The results revealed 4.8M deletion at 1p36.33p36.31 in fetus 1, 3.1M deletion at Xq26.3q27.1 in fetus 2, 6.5M deletion at distal 1q43q44 and a duplication of 8.8M at 7q36.1q36.3 in fetus 3, fetus 4 had a deletion of 9.51M at 1p36.33p36.22 and 14.3M duplication at 6q25.3q27.Conclusion: The genetic mechanism of corpus callosum agenesis is variably complex, and its clinical phenotype may occur either alone or in association with other abnormalities. This study revealed the microabnormalities of multiple chromosomes are related to the corpus callosum abnormality. Combined with ultrasound examination, the application of chromosome microarray analysis will effectively improve the diagnosis of congenital submicroscopic chromosomal abnormalities in fetuses.

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Aspects of prenatal ultrasound diagnostics of fetal commissural pathology. Part I: normal development (the corpus callosum and other major telencephalic commissures)

10.21516/2413-1458-2021-20-10-16 ◽

2021 ◽

Author(s):

S.A. Puyda, M.M. Petrova

Keyword(s):

Corpus Callosum ◽

Normal Development ◽

Prenatal Ultrasound ◽

Sonographic Appearance ◽

Ultrasound Diagnostics ◽

Normal Outcome ◽

Interhemispheric Connection

The corpus callosum pathology is associated with over 350 different congenital syndromes. In this article development of the main forebrain commissures in fetus ranging from 11 to 16 weeks of gestation at prenatal ultrasound are presented. This is the first sonographic study to describe the prenatal sonographic appearance of the main forebrain commissures in fetus and we speculate that cases with pathology of the corpus callosum and normal outcome might be result of the presence a residual interhemispheric connection.

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