Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging.

Chantal DedenKornelia NevelingDimitra ZafeiropopoulouChristian GilissenRolph PfundtTuula RinneNicole de LeeuwBrigitte FaasThatjana GardeitchikSuzanne C E H SalleveltAimee PaulussenServi J C StevensEsther SikkelMariet W EltingMerel C van MaarleKarin E M DiderichNicole Corsten-JanssenKlaske D LichtenbeltGuus LachmeijerLisenka E L M VissersHelger G YntemaMarcel NelenIlse FeenstraWendy A G van Zelst-Stams

Published in: Prenatal diagnosis (2020)

These results suggest that rWES improves prenatal diagnosis of fetuses with congenital anomalies, and has an important impact on prenatal and peripartum parental and clinical decision making.

Keyphrases

gestational age
decision making
preterm birth
pregnant women
genome wide
copy number
pregnancy outcomes
sensitive detection