EP08.11: Partial corpus callosum agenesis remains a challenge in prenatal diagnosis

2018 ◽  
Vol 52 ◽  
pp. 224-225
Author(s):  
S. Pashaj ◽  
E. Merz
Keyword(s):  
Prenatal Diagnosis ◽  
Corpus Callosum ◽  
Corpus Callosum Agenesis

Neurodevelopmental Outcomes following Prenatal Diagnosis of Isolated Corpus Callosum Agenesis: A Systematic Review

2021 ◽  
pp. 1-8
Author(s):  
Sara Bernardes da Cunha ◽  
Maria Carolina Carneiro ◽  
Maria Miguel Sa ◽  
Andrea Rodrigues ◽  
Carla Pina
Keyword(s):  
Systematic Review ◽  
Prenatal Diagnosis ◽  
Corpus Callosum ◽  
Neurodevelopmental Outcome ◽  
Supportive Therapy ◽  
Mesh Term ◽  
Older Children ◽  
Neurodevelopmental Outcomes ◽  
Agenesis Of Corpus Callosum ◽  
Corpus Callosum Agenesis

Abnormalities of corpus callosum are one of the most common brain anomalies. Fetuses with isolated corpus callosum agenesis (CCA) have a better prognosis than those with additional anomalies. However, unpredictable neurodevelopmental outcomes of truly isolated CCA make prenatal counseling a challenge. The aim of this review is to evaluate neurodevelopmental outcomes in children with prenatal diagnosis of isolated CCA. Controlled clinical trials published between May 23, 2009, and May 23, 2019, using the MeSH term “agenesis of corpus callosum” were reviewed. A total of 942 articles were identified, and 8 studies were included in the systematic review depending on the inclusion criteria. These studies included 217 fetuses with isolated CCA and no other anomalies at prenatal assessment. Neurodevelopmental outcome was reported to be normal in 83 children with a prenatal diagnosis of isolated CCA confirmed at birth within 128 completed assessments. About 45 children presented borderline, moderate, or severe neurodevelopmental outcome. In this review, neurodevelopment was favorable in two-thirds of the cases, but mild disabilities emerged in older children. Despite this, disabilities can occur later beyond school age and a low risk of severe cognitive impairment exists. Our study highlights the essential early diagnosis and proper supportive therapy.

scholarly journals Prenatal Diagnosis of Corpus Callosum Agenesis in Four Fetuses

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.

Prenatal diagnosis of fetal corpus callosum agenesis by ultrasonography and magnetic resonance imaging

1998 ◽  
Vol 18 (3) ◽  
pp. 247-253 ◽  
Author(s):  
Claude d'Ercole ◽  
Nadine Girard ◽  
Ludovic Cravello ◽  
Léon Boubli ◽  
Alain Potier ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Prenatal Diagnosis ◽  
Magnetic Resonance ◽  
Corpus Callosum ◽  
Resonance Imaging ◽  
Corpus Callosum Agenesis

Isolated corpus callosum agenesis: a ten-year follow-up after prenatal diagnosis (How are the children without corpus callosum at 10 years of age?)

2012 ◽  
Vol 32 (3) ◽  
pp. 277-283 ◽  
Author(s):  
Marie-Laure Moutard ◽  
Virginie Kieffer ◽  
Josué Feingold ◽  
Fanny Lewin ◽  
Jean-Michel Baron ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Corpus Callosum ◽  
Corpus Callosum Agenesis

scholarly journals P02.11: Prenatal diagnosis of corpus callosum agenesis by ultrasound: outcome in 219 cases

2005 ◽  
Vol 26 (4) ◽  
pp. 385-385 ◽  
Author(s):  
P. Godard ◽  
J. P. Bault ◽  
M. Althuser ◽  
M. Fontanges ◽  
N. Fries
Keyword(s):  
Prenatal Diagnosis ◽  
Corpus Callosum ◽  
Corpus Callosum Agenesis

Clinical Outcome of Children with Corpus Callosum Agenesis

2019 ◽  
Author(s):  
Vera Raile ◽  
Nina Herz ◽  
Gabriel Promnitz ◽  
Joanna Schneider ◽  
Angela Maria Kaindl
Keyword(s):  
Corpus Callosum ◽  
Clinical Outcome ◽  
Corpus Callosum Agenesis

A case of prenatal diagnosis of corpus callosum lipoma

2020 ◽  
Author(s):  
A.I. Zamiatina, M.V. Medvedev
Keyword(s):  
Magnetic Resonance Imaging ◽  
Blood Flow ◽  
Prenatal Diagnosis ◽  
Magnetic Resonance ◽  
Corpus Callosum ◽  
Color Doppler ◽  
Septum Pellucidum ◽  
Resonance Imaging

A case of prenatal diagnosis of the corpus callosum lipoma at 32–33 weeks of gestation is presented. In a consultative examination, a hyperechoic formation with clear contours was found in the projection of the septum pellucidum, occupying the rostrum, genu, and truncus of corpus callosum, without signs of intratumorally blood flow in the color Doppler mapping mode. The prenatal diagnosis of "callosum lipoma" was established, confirmed after the birth of a child during magnetic resonance imaging.

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