Performance of noninvasive prenatal screening for fetal sex chromosome aneuploidies in a cohort of 116,862 pregnancies.

Yanfei XuJianbo LouYeqing QianPengzhen JinYangwen QianJiawei HongYuqing XuYixuan YinSongjia YiMin-Yue Dong

Published in: Expert review of molecular diagnostics (2024)

NIPS screening for fetal SCAs has high sensitivity, specificity and NPV. The PPV of SCAs was moderate, but that of 45,X was lower than that of SCTs. Invasive prenatal diagnosis should be recommended for high-risk patients.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
pregnant women
prognostic factors
peritoneal dialysis
high intensity
dna methylation
copy number
patient reported outcomes
gestational age
genome wide