无创产前筛查在辅助生殖妊娠人群染色体非整倍体筛查中的应用价值分析  

Application value analysis of noninvasive prenatal screening for chromosome aneuploidy in assisted reproductive pregnancy

作　　者：刘建珍[1] 林铿[1] 许碧秋 孟祥荣 李熹翀 覃燕龄 陈鸿桢 Liu Jianzhen;Lin Keng;Xu Biqiu;Meng Xiangrong;Li Xichong;Qin Yanling;Chen Hongzhen(Huadu Maternity and Child Healthcare Hospital,Guangzhou Guangdong 510800,China)

机构地区：[1]广州市花都区妇幼保健院(胡忠医院),广东广州510800

出　　处：《中国产前诊断杂志(电子版)》2025年第1期6-11,共6页Chinese Journal of Prenatal Diagnosis(Electronic Version)

基　　金：广州市卫生健康科技一般引导项目(20251A010104);广州市花都区卫生健康局一般科研专项项目(24-HDWS-072);花都区基础与应用基础研究区院联合资助项目(24HDQYLH30)。

摘　　要：目的评估辅助生殖技术(assisted reproductive technology,ART)妊娠人群应用无创产前筛查(non-inwasive prenatal testing,NIPT)检测染色体非整倍体的应用价值,为ART妊娠应用NIPT筛查提供理论依据。方法收集2018年1月至2024年6月在广州市花都区妇幼保健院行NIPT检测的1519例ART妊娠孕妇为研究对象,同期18856例自然妊娠孕妇作为对照组,回顾两组的临床信息、NIPT结果及随访情况,比较两组NIPT的检测效能。结果ART妊娠组双胎占比24.37%,孕妇平均年龄(34.2±4.0)岁,平均孕周(16.3±2.0)周,高龄孕妇占41.44%,胎儿游离DNA(cell-free fetal DNA,cffDNA)浓度为(14.65±8.57)%。与自然妊娠组比较,双胎和高龄孕妇均占比高于自然妊娠组,差异有统计学意义(P<0.05)。cffDNA浓度为低于自然妊娠组,差异有统计学意义(P>0.05)。ART妊娠组临床指征为血清学筛查临界风险、超声软指标异常、孕周错过血清学筛查的孕妇占比分别为8.30%、3.75%、4.08%,均较自然妊娠组低,差异均有统计学意义(P<0.05)。ART妊娠组检出T21、T18及T13高风险共6例,检出率为0.40%。经产前诊断确诊T21、T18各1例,T21、T18及T13阳性预测值(PPV)分别为100%、50%、0%,复合PPV为40%(2/5),阴性预测值(NPV)均为100%,NIPT高风险检出率、NPV及复合PPV与自然妊娠结果相近,差异均无统计学意义(P>0.05)。结论NIPT应用在ART妊娠人群染色体非整倍体有着与自然妊娠人群相近的检测效能,但其双胎及高龄孕妇占比较自然妊娠人群高,应用NIPT时需更慎重。Objective To evaluate the application value of noninvasive prenatal screening(NIPT)to detect chromosome aneuploidy in assisted reproductive technology(ART)pregnancy,and to provide theoretical basis for NIPT screening in ART pregnancy.Methods From January 2018 to June 2024,1519 pregnant women with ART who underwent NIPT testing in Huadu District Maternal and Child Health Hospital of Guangzhou were collected as the study subjects,and 18,856 pregnant women with natural pregnancy during the same period were used as the control group.Clinical information,NIPT results and follow-up of the two groups were reviewed,and the efficacy of NIPT detection in the two groups was compared.Results In ART pregnancy group,twins accounted for 24.37%,the mean age of pregnant women was(34.2±4.0)years,the mean gestational age was(16.3±2.0)weeks,the elderly pregnant women accounted for 41.44%,and the cffDNA(cell-free fetal DNA,cffDNA)concentration was(14.65±8.57)%.Compared with the natural pregnancy group,the proportion of twins and elderly pregnant women was higher than that of the natural pregnancy group,and the difference was statistically significant(P<0.05).The concentration of cffDNA was lower than that of natural pregnancy group,and the difference was statistically significant(P>0.05).The clinical indications of ART pregnancy group were critical risk of serological screening,abnormal ultrasound soft indicators,and the proportion of pregnant women who missed serological screening during pregnancy were 8.30%,3.75%and 4.08%,respectively,which were lower than those of natural pregnancy group,and the differences were statistically significant(P<0.05).Six high-risk cases of T21,T18 and T13 were detected in ART pregnancy group,and the detection rate was 0.40%.The positive predictive value(PPV)of T21,T18 and T13 was 100%,50%and 0 respectively,the combined PPV was 40%(2/5),and the negative predictive value(NPV)was 100%.The high risk detection rate of NIPT,NPV and combined PPV were similar to the results of natural pregnancy.There were n

关 键 词：无创产前筛查 辅助生殖妊娠 染色体非整倍体 产前诊断 

分 类 号：R715.5[医药卫生—妇产科学]