Non-invasive prenatal diagnosis for translocation carriers-YES please or NO go?

Malgorzata Ilona SrebniakFernanda S JeheeMarieke JoostenMarjan BoterWalter G de ValkRobert van der HelmErik A SistermansEls VoorhoeveShama BholaMariette J V HofferNicolette den HollanderMerryn V E MacvilleDiane Van Opstal

Published in: Acta obstetricia et gynecologica Scandinavica (2021)

This study supports the hypothesis that routine NIPS may be used for prenatal diagnosis of unbalanced inheritance of familial translocations, especially with prior knowledge of the translocation allowing focused examination of the involved chromosomal regions. Our study showed that routine shallow sequencing designed for aneuploidy detection in cell free DNA may be sufficient for higher resolution NIPS, if specialized copy number software is used and if sufficient fetal fraction is present.

Keyphrases

copy number
mitochondrial dna
healthcare
genome wide
dna methylation
single cell
early onset
gene expression
sensitive detection