The aim is to evaluate the accuracy and clinical implications of diagnosing sex chromosome abnormalities (SCAs) using noninvasive prenatal screening (NIPS).
Analysis of NIPS data for sex chromosome abnormalities
Evaluation of maternal karyotypes
Assessment of true-positive and false-positive rates
Less than 50% of NIPS-predicted SCAs were confirmed as true positives.
Approximately one-third of confirmed SCAs showed mosaicism.
Abnormal maternal karyotypes may lead to increased false-positive rates.
Abstract
· Less than half of NIPS-predicted SCAs were true-positive.. · Nearly one-third of confirmed SCAs involved mosaicism.. · Abnormal maternal karyotype may drive false-positive rates..