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Counseling in fetal medicine: agenesis of the corpus callosum
Author(s) -
Santo S.,
D'Antonio F.,
Homfray T.,
Rich P.,
Pilu G.,
Bhide A.,
Thilaganathan B.,
Papageorghiou A. T.
Publication year - 2012
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1002/uog.12315
Subject(s) - medicine , agenesis of the corpus callosum , corpus callosum , fetus , obstetrics , corpus callosum agenesis , pregnancy , anatomy , genetics , biology
Abstract In this Review, we aim to provide up‐to‐date and evidence‐based answers to common questions regarding the diagnosis and prognosis of prenatally detected agenesis of the corpus callosum ( ACC ). A systematic literature search was performed to identify all reports of ACC and reference lists of articles were identified. ACC involves partial or complete absence of the main commissural pathway that connects the two cerebral hemispheres, and can be isolated (with no other abnormalities) or complex (coexisting with other abnormalities). It is a rare finding and the prevalence is difficult to estimate because of selection bias in reported series. The corpus callosum ( CC ) can be assessed on ultrasound by direct visualization, but indirect features, such as ventriculomegaly, absence of the cavum septi pellucidi or widening of interhemispheric fissure, are often the reason for detection in a screening population. Careful imaging in a center with a high level of expertise is required to make a full assessment and to exclude coexisting abnormalities, which occur in about 46% of fetuses. When available, magnetic resonance imaging appears to be an important adjunct as it allows direct visualization. It can reduce false‐positive rates on ultrasound and can confirm ACC , it can assess whether this is complete or partial and it can help in detecting coexisting brain abnormalities not seen on ultrasound. The overall rate of chromosomal abnormality in fetuses with ACC is 18%, but this high rate includes both isolated and complex ACC ; more recent studies suggest that chromosomal abnormalities are rare in isolated cases. Nevertheless, postnatal follow‐up studies suggest that about 15% of cases thought to be isolated prenatally were found to have associated abnormalities after birth. Neurodevelopmental outcome in isolated ACC was recently reported in a systematic review and suggested normal outcome in about 65–75% of cases. Findings need to be considered in light of the several limitations of existing studies, in terms of study design, selection bias, varying definitions and imaging protocols, ascertainment bias and lack of control groups. These uncertainties mean that antenatal counseling is difficult and further large prospective studies are needed.