早孕期唐氏综合征和18-三体综合征一站式产前筛查的结果分析

Analysis of the results of one-stop prenatal screening for Down′s syndrome and trisomy 18 syndrome in early pregnancy

目的分析早孕期一站式筛查法进行唐氏综合征和18-三体综合征产前筛查的效率,为临床咨询提供参考依据。方法回顾分析2011年1月至2017年12月间进行早孕期一站式产前筛查的结果,通过筛查阳性率、检出率和阳性预测值评价早孕期一站式筛查法的筛查效率。结果107 406例孕妇中筛查出唐氏综合征和18-三体综合征高风险病例分别为3 284例和382例,筛查阳性率分别为3.1%和0.4%。经最终妊娠结局显示唐氏综合征妊娠111例,检出率为86.5%,阳性预测值2.9%;高龄组和低龄组唐氏综合征检出率分别为97.9%和78.1%,两者差异有统计学意义(P=0.003)。18-三体综合征妊娠33例,检出率为75.8%,阳性预测值为6.5%;高龄组和低龄组18-三体综合征检出率分别为81.3%和70.6%,两者差异无统计学意义(P=0.758)。结论早孕期一站式筛查法可以有效检出唐氏综合征和18-三体综合征妊娠,早孕期筛查应以一站式筛查法为首选方法。所有年龄段人群均应先进行一站式产前筛查,将有利于降低有创检查率和胎儿流产率及降低成本。

Objective To analyze the efficiency of one-stop screening for Down′s syndrome(DS)and trisomy 18 syndrome in early pregnancy,and to provide reference for clinical consultation.Methods The results of one-stop prenatal screening in early pregnancy from January 2011 to December 2017 were retrospectively analyzed.The screening efficiency of one-stop prenatal screening in early pregnancy was evaluated by screening positive rate,detection rate and positive predictive value.Results Among 107 406 pregnant women,3 284 and 382 high-risk cases of DS and trisomy 18 syndrome were screened,and the positive rates of screening were 3.1%and 0.4%respectively.The final pregnancy outcome showed 111 DS pregnancies,the detection rate was 86.5%,the positive predictive value was 2.9%.The detection rate of DS in the elderly group and the younger group was 97.9%and 78.1%,respectively.There was a significant difference between the two groups(P=0.003).The positive predictive value of trisomy 18 syndrome was 6.5%.The detection rate of trisomy 18 syndrome was 81.3%in the older group and 70.6%in the younger group.There was no significant difference between the two groups(P=0.758).Conclusion One-stop screening in early pregnancy can effectively detect DS and trisomy 18 pregnancy.One-stop screening should be the first choice in early pregnancy screening.All age groups should first carry out one-stop prenatal screening,which will help to reduce the rate of invasive screening and fetal abortion and reduce costs.