85 525例无创产前检测发现罕见常染色体 三体结果分析.

Objective To provide further data for clinical treatment of rare autosomal trisomy (RATs), through the analysis of the results of RATs screened by non-invasive prenatal examination (NIPT). Method A total of 85, 525 pregnant women who received NIPT in Maternity and Child Health Hospital Affiliated to Anhui Medical University from January 1, 2018 to June 1, 2022 were selected. Invasive diagnosis was performed for women with high risk results and pregnancy outcome was followed. Result Among the 85, 525 samples, 182 cases of high risk of RATs were detected. A total of 136 cases chose for further diagnosis, and 7 cases were confirmed, including 2 cases of T2, 1 case of T7, 1 case of T9, 1 case of T15, and 2 cases of T16. Positive predictive value (PPV) were 50%, 3.13%, 12.5%, 33.3%, and 12.5%, respectively, and the PPV of other chromosomes was 0. The total PPV was 5.15%. Detailed follow-up was conducted in 121 high-risk pregnant women, and 116 (95.87%) had a live birth, the incidence of fetal growth restriction (FGR) and preterm birth (PTB) were 25.62%, 20.66% respectively. Conclusion RATs screened by NIPT has a lower PPV, but the high risk of RATs has important clinical significance, suggesting that pregnant women are at increased risk of FGR and PTB and need enhanced ultrasound follow-up. [ABSTRACT FROM AUTHOR]