Clinical application of noninvasive prenatal screening for sex chromosome aneuploidies in 50,301 pregnancies: initial experience in a Chinese hospital

摘要: To evaluate the clinical performance of noninvasive prenatal screening (NIPS) for fetal sex chromosome aneuploidies (SCAs), pregnant women were recruited in this retrospective observational study. The NIPS test was undertaken using high-throughput gene sequencing. In total,50,301 analysed demographic characteristics and medical history. Of them, 308 (0.61%) had high risk SCAs, including 138 45,X, 111 47,XXY, 42 47,XXX, 17 47,XYY. After pre-test counselling, 182 participants chose to undergo invasive diagnosis, confirming 59 positive cases. combined predictive value 32.42% (59/182), 18.39% (16/87), 44.4% (12/27), 39.29% (22/56), 75% (9/12) detecting 47,XYY, respectively. can be a useful method detect SCAs sequencing, though accuracy still improved, especially 45,X. Although compare favorably with those seen traditional approaches it is important highlight limitations while educating clinicians patients.