Chromosomal microarray testing yield in 829 cases of microcephaly: a clinical characteristics-based analysis for prenatal and postnatal cases.

Rivka Sukenik-HalevyNir MevorachLina Basel-SalmonReut Tomashov MatarSarit KahanaKochav KleinIfaat Agmon-FishmanMichal LevyIdit Maya

Published in: Archives of gynecology and obstetrics (2024)

The yield of CMA testing in prenatal microcephaly is lower than in postnatal cases (4.6% vs. 15%). The presence of microcephaly, combined with dysmorphism, hypotonia, epilepsy, CHD, LD, and FGR, significantly increases the likelihood of an abnormal CMA result.

Keyphrases

zika virus
intellectual disability
pregnant women
preterm infants
autism spectrum disorder
gene expression
copy number