Copy number variations analysis in a cohort of 47 fetuses and newborns with congenital diaphragmatic hernia.

Marie BoissonAnne-Gael CordierJelena MartinovicAline ReceveurAurélie MoukaRomain DiotCatherine EgoroffGeoffroy EsnaultLoïc DrévillonAlexandra BenachiGérard TachdjianLucie Tosca

Published in: Prenatal diagnosis (2022)

We suggest that COL25A1, DSEL, EYA1, FLNA, MECOM, NRXN1, RARB, SPATA13, TJP2, XIRP2, and ZFPM2 genes may be related to CDH occurrence. Thus, this study provides a possibility for new methods of a positive diagnosis.

Keyphrases

copy number
mitochondrial dna
genome wide
gestational age
dna methylation
pregnant women
risk assessment
low birth weight
cord blood
preterm infants
bioinformatics analysis
genome wide identification