Diagnostic yield of prenatal exome sequencing in the genetic screening of fetuses with brain anomalies detected by MRI and ultrasonography: A systematic review and meta-analysis.

Behnaz MoradiArmin AriaeiMahsa Heidari-ForoozanMasoumeh BanihashemianHamed GhoraniAli Rashidi-NezhadMohammad Ali KazemiMorteza Sanei Taheri

Published in: BJOG : an international journal of obstetrics and gynaecology (2023)

ES is a useful method with a significantly higher diagnostic yield than CMA for genetic assessment of fetuses with complex BAs detected by imaging techniques. Moreover, ES could be applied to suspected fetuses with related family histories to predict congenital diseases with high efficiency.

Keyphrases

high efficiency
gestational age
contrast enhanced
copy number
magnetic resonance imaging
genome wide
pregnant women
pulmonary embolism
white matter
preterm birth
single cell
computed tomography
dna methylation
gene expression
multiple sclerosis
brain injury