Exome sequencing in every pregnancy? Results of trio exome sequencing in structurally normal fetuses.

Michal LevyShira LifshitzMirela Goldenberg-FumanovLily BazakRayna Joy GoldsteinUri HamielRachel BergerShlomo LipitzIdit MayaMordechai Shohat

Published in: Prenatal diagnosis (2024)

The 2.7% detection rate highlights the significant contribution of pES in low-risk pregnancies. However, it necessitates rigorous analysis, and comprehensive genetic counseling before and after testing.

Keyphrases

copy number
preterm birth
single cell
gestational age
pregnancy outcomes
genome wide
smoking cessation
loop mediated isothermal amplification
gene expression
dna methylation