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 BiskupPublished 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.