目的 对无创产前检测（noninvasive prenatal testing，NIPT）筛查出的罕见常染色体三体（rare autosomal trisomies，RATs）进行结果分析，为RATs的临床处理提供进一步数据。方法 选择2018年1月1日 至 2022 年 6 月 1 日在安徽省妇幼保健院接受 NIPT 的 85 525 例孕妇，对 RATs 高风险的样本进行侵入性诊 断并对妊娠结局进行随访。结果 85 525 例样本中 NIPT 共检测出 182 例 RATs 高风险，136 例选择进一步 诊断，确诊 7 例，分别为 2 例 T2；1 例 T7；1 例 T9；1 例 T15；2 例 T16，阳性预测值（positive predictive value， PPV）分别为 50%、3.13%、12.5%、33.3%和 12.5%，其他染色体的 PPV 均为 0.00%，总体 PPV 为 5.15%。随访 了 121 例高风险孕妇的妊娠结局，116 例（95.87%）获得了活产，胎儿生长受限（fetal growth restriction，FGR） 和早产（preterm birth，PTB）的发生率分别为 25.62%和 20.66%。结论 NIPT 筛查 RATs 的 PPV 较低，但是 RATs 高风险具有重要的临床意义，提示孕妇患FGR 和PTB 的风险增加，需要增强超声随访。 

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.