Chromosomal microarray analysis in fetuses with central nervous system anomalies: An 8-year long observational study from a tertiary care university hospital.

Maddalena SantiroccoAlberto PlajaCarlota RodóIrene ValenzuelaSilvia ArévaloNeus CastellsAnna AbuliEduardo TizzanoNerea MaízElena Carreras

Published in: Prenatal diagnosis (2020)

These results provide strong evidence toward performing array in fetuses with CNS anomalies, particular in cases of posterior fossa anomalies. The prevalence of pathogenic CNVs is higher in association with other malformations.

Keyphrases

tertiary care
gestational age
risk factors
high resolution
high throughput
gene expression
cerebrospinal fluid
dna methylation