When should we offer antenatal sequencing for urinary tract malformations? A systematic review, cohort study and meta-analysis.

Sarah SonnerKelly ReillyAdrian S WoolfNatalie Jane Chandler Mark David KilbyEamonn R MaherCheryl FlanaganAmy Jayne McKnightFionnuala Mone

Published in: Prenatal diagnosis (2023)

There was a notable incremental genetic diagnostic yield when PES was applied to multisystem UTMs and BEKs. There was a modest incremental yield when this technique was used for UTMs other than BEKs.

Keyphrases

urinary tract
pregnant women
single cell
genome wide
preterm birth
copy number
dna methylation
gene expression