Identification of copy number variations among fetuses with isolated ultrasound soft markers in pregnant women not of advanced maternal age.

Yunyun LiuSha LiuJianlong LiuTing BaiXiaosha JingCechuan DengTianyu XiaJing ChengLingling XingXiang WeiYuan LuoQuanfang ZhouDan XieYueyue XiongLing LiuQian ZhuHongqian Liu

Published in: Orphanet journal of rare diseases (2024)

NIPS yielded a moderate PPV for CNVs in non-AMA pregnant women with fetal USM. However, NIPS showed limited ability in identifying P CNVs. Positive NIPS results for CNVs emphasize the need for further prenatal diagnosis. We do not recommend the use of NIPS for CNVs screening in non-AMA pregnant women with fetal USM, especially in fetuses with ARSA.

Keyphrases

pregnant women
copy number
mitochondrial dna
gestational age
pregnancy outcomes
genome wide
birth weight
magnetic resonance imaging
body mass index
physical activity