产前血清学四联筛查后联合NIPT产筛模式在胎儿染色体筛查中的应用

Application of combination of prenatal serological quadruple screening and NIPT birth screening mode in fetal chromosome screening

目的:探讨产前血清学四联筛查后联合无创产前检测(NIPT)产筛模式在胎儿染色体筛查中的应用价值。方法:选择进行产检的孕妇11796例为观察对象,按照产前血清学四联筛查将孕妇分为高风险组和临界风险组,对高风险组和临界风险组孕妇进行NIPT检测,同时对NIPT结果为高危的孕妇,行常规染色体核型分析和/或高通量测序检测,对所有孕妇进行随访。结果:唐氏筛查筛选出高风险孕妇721例,临界风险孕妇1455例。高风险的721例孕妇中,NIPT检测高风险19例,即需要行侵入性产前诊断者为2.64%;显示临界风险的1455例孕妇中,NIPT检测高风险5例,即需要行侵入性产前诊断者为0.34%;NIPT显示高风险的24例孕妇全部进行染色体核型分析,结果显示共有20例孕妇显示染色体异常。唐氏筛查高风险孕妇确诊19例,其中包括21-三体综合征13例,18-三体综合征4例,13-三综合征1例,其他染色体异常1例;临界风险孕妇确诊1例,为21-三体综合征;24例孕妇中20例与核型分析结果一致经产前诊断中心核实,结合妊娠结局,唐氏筛查高风险率为6.11%,联合NIPT筛查后染色体假阳性率3.29%,检出率为83.33%。结论:产前血清学四联筛查后联合NIPT产筛模式可减少高风险孕妇有创检查的比例,对21-三体综合征、18-三体综合征的筛查具有一定临床意义。

Objective:To explore the application value of combination of prenatal serological quadruple screening and non-invasive prenatal testing(NIPT)birth screening mode in fetal chromosome screening.Methods:A total of 11796 pregnant women undergoing maternity check-ups were selected as the observation subjects.According to the prenatal serological quadruple screening,the pregnant women were divided into high-risk group and borderline-risk group.The pregnant women in the high-risk group and borderline-risk group were tested for NIPT,meanwhile the pregnant women with a high-risk NIPT result were subjected to routine karyotyping and/or high-throughput sequencing tests,and all pregnant women were followed up.Results:Down's screening screened out 721 high-risk pregnant women and 1455 borderline-risk pregnant women.Among the 721 high-risk pregnant women,19 were high-risk by NIPT,that was 2.64%of those who required invasive prenatal diagnosis.Among the 1455 pregnant women who showed a borderline-risk in Down's screening,5 cases were high-risk by NIPT,that was 0.34%of those who needed invasive prenatal diagnosis.The 24 pregnant women with high-risk NIPT were all subjected to karyotype analysis,which showed that 20 pregnant women showed chromosomal abnormalities.The high-risk pregnant women in Down's screening confirmed 19 cases,including 13 cases of 21-trisomy syndrome,4 case of 18-trisomy syndrome,1 case of 13-trisomy syndrome,and 1 case of other chromosomal abnormalities.A borderline-risk pregnant woman was diagnosed as 21-trisomy syndrome.A total of 20 cases of 24 pregnant women were consistent with the results of the karyotype analysis.Combined with the pregnancy outcome,the high-risk rate of Down's screening was 6.11%,the false positive rate of chromosome after combined NIPT screening was 3.29%,and the detection rate was 83.33%.Conclusions:Combination of prenatal serological quadruple screening and NIPT birth screening mode can reduce the proportion of invasive examinations in high-risk pregnant women,it has certain clinical significance for the screening of 21-trisomy syndrome and 18-trisomy syndrome.