Noninvasive prenatal sequencing for multiple Mendelian monogenic disorders among fetuses with skeletal dysplasia or increased nuchal translucency.
Huanchen YanXiaofan ZhuJingsi ChenYe CaoYvonne Ka Yin KwokZihan ChenTak Yeung LeungMin ChenKwong-Wai ChoyPublished in: Prenatal diagnosis (2020)
Our pilot study demonstrates that NIPS-M is an accurate approach for detection of multiple monogenic disorders among fetuses with skeletal abnormalities or increased NT. It serves as an alternative and highly sensitive method to provide valuable molecular information for these groups of women who are reluctant to undergo invasive procedure.