Application of expanded noninvasive prenatal test in prenatal diagnosis of fetuses with increased nuchal translucency.

Xiaoxiao XieHonghui ZhouQingdong ZhaoYanping LuYuanguang Meng

Published in: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians (2021)

NIPT-plus is recommended as the first choice for fetal diagnosis in pregnant women with 2.5 mm ≤ NT < 3.0 mm who do not accept invasive prenatal diagnosis. When NT ≥ 3.0 mm and NIPT-Plus detects chromosomal aneuploidy, a rapid prenatal diagnosis can be performed through amniocentesis. In cases where NIPT-Plus yields negative results, amniocentesis still needs to be performed to detect chromosome microdeletions/duplications in order to avoid a missed diagnosis.

Keyphrases

pregnant women
copy number
gene expression
gestational age
dna methylation