Trio exome sequencing is highly relevant in prenatal diagnostics.

Heinz GabrielDirk KorinthMartin RitthalerBjörn SchulteFlorian BattkeConstantin von KaisenbergMax WüstemannBernt SchulzeAlmuth Friedrich-FreksaLutz PfeifferMichael EntezamiAndreas SchröerJoachim BürgerEva Maria Christina SchwaiboldHolger LebekSaskia Biskup

Published in: Prenatal diagnosis (2021)

Trio exome sequencing is a useful addition to prenatal diagnostics due to its high diagnostic yield and short processing time (comparable to chromosome analysis). It covers a wide spectrum of genetic changes. Comprehensive interdisciplinary counseling before and after diagnostics is indispensable.

Keyphrases

copy number
pregnant women
single cell
genome wide
gene expression
dna methylation
hepatitis c virus
human immunodeficiency virus
hiv infected