Contribution of chromosomal microarray analysis and next-generation sequencing to genetic diagnosis in fetuses with normal karyotype.

Münip Akalin Oya Demirci Gizem Elif Dizdaroğulları Erman Çiftçi Ali Karaman

Published in: The journal of obstetrics and gynaecology research (2022)

pCNVs can be significantly detected not only in fetuses with structural malformations, but also in invasive testing with other indications. NGS significantly contributes to genetic diagnosis in fetuses with structural malformations.

Keyphrases

copy number
gestational age
genome wide
dna methylation
gene expression
circulating tumor