The application of NIPT using combinatorial probe-anchor synthesis to identify sex chromosomal aneuploidies (SCAs) in a cohort of 570 pregnancies.

NIPT based on CPAS could be a potential method for SCAs screening. However, it still had high false positive rates, especially for 45,X. The pregnant women with fetal SCAs detected by NIPT, especially those with non-age-related prenatal diagnostic indications, should be advised to accept invasive prenatal karyotype analysis.