江苏地区以人群为基础的唐氏综合征产前筛查和诊断研究

目的 对江苏省中期妊娠孕妇的胎儿进行唐氏综合征筛查和诊断,减少21三体综合征患儿出生.方法 用分层和整群抽样相结合的多阶段抽样方法,对江苏省怀孕15～20周的26 803名妇女采用时间荧光分辨法进行母血清常规二联筛查,筛查出的高风险孕妇进行羊膜腔穿刺、细胞培养、染色体分析.出生儿童通过面访和外周血染色体培养确诊.结果 血清筛查和羊水染色体检查,确诊6例胎儿;出生儿童随访和外周血染色体分析确诊3例,共确诊9例唐氏综合征,产前筛查检出率为67%(6/9).结论 产前筛查和诊断可以减少唐氏综合征患儿出生,提高出生人口素质.但是应提高产前筛查的准确性,最大限度地降低假阴性,减少或杜绝漏诊发生.

A study on population-based prenatal screening and diagnosis of Down's syndrome in Jiangsu province

Objective To screen and diagnose Down' s syndrome during mid-term pregnancy to reduce the number of babies with Down' s syndrome. Methods With the multi-level of stratified cluster sampling, twenty thousand and eight hundred and three women at 15-20 weeks gestation were screened by maternal serum AFP and β-hCG using the time resolved fluoroimmunoassay (TRFIA). Then the screened high-risk women were diagnosed by amniocentesis, cell culture and chromosome analyses. The born children were diagnosed by follow-up and peripheral blood chromosome analyses. Results Six fetuses were diagnosed by serum screening and amniotic fluid chromosome analyses, and 3 born children were diagnosed by follow-up and peripheral blood chromosome analyses. Nine cases of Down's syndrome were detected in total, with the positive prenatal screen rate being 67% (6/9). Conclusion The prenatal screening and diagnosis can reduce the birth of Down's syndrome patients and improve the population quality. However, the diagnosis accuracy still needs to be improved to further reduce the false negative rate and prevent misdiagnosis.