Diagnostic yield of genome sequencing for prenatal diagnosis of fetal structural anomalies.

Yiming WangElena GreenfeldNicholas WatkinsPeter BelesiotisSyed H ZaidiChristian MarshallBhooma ThiruvahindrapuramPatrick ShannonMaian RoifmanKaren ChongDavid ChitayatDimitri James StavropoulosAbdul Noor

Published in: Prenatal diagnosis (2022)

Prenatal GS offered diagnoses (sequence variants and CNVs) in 19% of fetuses with structural anomalies. GS has the potential of replacing multiple consecutive tests, including microarray, gene panels, and WES, to provide the most comprehensive analysis in a timely manner necessary for prenatal diagnosis.

Keyphrases

copy number
genome wide
pregnant women
dna methylation
gene expression
human health
genome wide identification
climate change