Cell-based noninvasive prenatal testing (cbNIPT) detects pathogenic copy number variations.

Lotte HattRipudaman SinghRikke ChristensenKatarina RavnInga B ChristensenLine Dahl JeppesenBolette Hestbek NicolaisenMathias KølvraaPalle ScheldeLotte AndreassenRichard FarlieNiels UldbjergIda Vogel

Published in: Clinical case reports (2020)

In two cases, cell-based noninvasive prenatal testing (cbNIPT) detected pathogenic copy number variations (CNVs) in the fetal genome. cbNIPT may potentially be an improved noninvasive alternative for the detection of smaller CNVs.

Keyphrases

copy number
mitochondrial dna
genome wide
dna methylation
single cell
pregnant women
cell therapy
stem cells
real time pcr
mesenchymal stem cells