Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes.

Desheng LiangDavid S CramHu TanSiyuan LinpengYingdi LiuHuaiyu SunYu ZhangFeng TianHongmin ZhuMengnan XuHua WangFuli YuLingqian Wu

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)

NIPS-Plus yielded high PPVs for common aneuploidies and DiGeorge syndrome, and moderate PPVs for other MMS. Our results present compelling evidence that NIPS-Plus can be used as a first-tier pregnancy screening method to improve detection rates of clinically significant fetal chromosome abnormalities.

Keyphrases

copy number
pregnant women
preterm birth
high intensity
case report
loop mediated isothermal amplification
label free
real time pcr
genome wide
quantum dots