Article
Advanced genomic testing may aid in counseling of isolated agenesis of the corpus callosum on prenatal ultrasound.
Prenatal diagnosis - 1 Dec 2017
de Wit M C, Boekhorst F, Mancini G M, Smit L S, Groenenberg I A L, Dudink J, de Vries F A T, Go A T J I, Galjaard R J H
Abstract excerpt
OBJECTIVE: Isolated agenesis of the corpus callosum on fetal ultrasound has a varied prognosis. Microarray and exome sequencing (ES) might aid in prenatal counseling. METHOD: This study includes 25 fetuses with apparently isolated complete corpus callosum (cACC) on ultrasound. All cases were offered single nucleotide polymorphism array. Complementary ES was offered postnatally in selected cases. Clinical physical...
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