Spectrum of congenital anomalies of the kidney and urinary tract (CAKUT) including renal parenchymal malformations during fetal life and the implementation of prenatal exome sequencing (WES).
Koenigbauer Josefine TheresiaLaura FangmannCharlotte ReinhardtAlexander WeichertWolfgang HenrichBiskup SaskiaHeinz-Peter GabrielPublished in: Archives of gynecology and obstetrics (2023)
WES provides an increase in diagnosing pathogenic variants in cases of prenatally detected CAKUT. Especially in fetuses with extra-renal malformations, WES facilitates a gain in information on the fetal genotype to enhance prenatal counselling and management.