无创产前基因检测在体外受精孕妇中的检测性能分析

Performance analysis of non-invasive prenatal testing in pregnant women with in vitro fertilization

目的 评估无创产前基因检测(Non-invasive Prenatal Testing,简称NIPT)用于体外受精(IVF)孕妇的检测性能。方法 纳入2019年7月-2021年9月河北省进行NIPT筛查的14 804名IVF孕妇和891 226名非IVF孕妇,收集NIPT检测结果、产前诊断结果和妊娠结局等信息,分析NIPT在IVF孕妇中的检测性能(包括灵敏度、特异度及阳性预测值等),并与非IVF孕妇进行对比分析。结果 IVF孕妇平均年龄(31.1±4.0)岁,高龄孕妇(≥35岁)占比18.3%,平均筛查孕周(16.2±1.9)周,双胎占比23.2%,高龄和双胎占比显著高于非IVF孕妇。IVF孕妇中分别检出21-三体(T21)、18-三体(T18)和13-三体(T13)高风险28、9、3例,总体阳性率为0.27%,与非IVF孕妇(0.19%)相比存在显著差异。经产前诊断后,17例T21高风险确诊15例,7例T18高风险确诊2例,3例T13高风险者确诊0例。NIPT对常见染色体非整倍体(T21、T18、T13)总体的检测灵敏度、特异度及阳性预测值分别为100.00%、99.93%、62.96%,与非IVF孕妇对比差异无统计学意义。结论 在IVF孕妇中NIPT对常见染色体非整倍体具有较好的检测性能,可在IVF孕妇中将NIPT作为常规筛查进行推广应用,降低有创产前诊断的潜在风险。

Objective We aimed to assess the clinical performance of non-invasive prenatal testing(NIPT) for detecting fetal chromosome trisomies in pregnancies through in vitro fertilization(IVF).Methods A total of 14 804 IVF pregnant women and 891 226 non-IVF pregnant women who underwent NIPT screening in Hebei Province from July 2019 to September 2021 were included in this study.NIPT test results, prenatal diagnosis results, pregnancy outcomes and other information were collected.The NIPT performance(including sensitivity, specificity, positive predictive value, etc.) in IVF group was calculated and compared with non-IVF group.Results Among IVF women, the average age was(31.1±4.0) years, and the proportion of advanced age(≥35 years) was 18.3%.The average gestational week of NIPT was(16.2±1.9) weeks.The ratio of twin pregnancies was 23.2%.Significantly higher proportions of advanced age women and twin pregnancies were found in IVF group when compared to non-IVF group.There were 28,9 and 3 high-risk cases for trisomy 21,18 and 13 in IVF women, respectively.The difference in overall positive incidence was significant between IVF group(0.27%) and non-IVF group(0.19%).According to prenatal diagnosis, 15 out of 17 cases with high risk for trisomy 21,2 out of 7 cases with high risk for trisomy 18,and 0 out of 3 patients with high risk for trisomy 13 were confirmed in IVF women.The overall sensitivity, specificity and positive predicted value for common trisomies(T21,T18 and T13) among IVF women reached 100.00%,99.93% and 62.96%,respectively, and no significant difference was observed between IVF and non-IVF women.Conclusion The performance of NIPT was at a relative high level for detecting common trisomies in women with IVF.NIPT could be considered to be widely adopted as a clinical screening for IVF women to reduce the potential risk of invasive prenatal diagnosis.