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目的 :探讨唐氏筛查及产前诊断在预防和减少染色体病及先天缺陷儿出生的实用价值。方法 :应用时间分辨荧光免疫法对孕中期 (15～ 2 0周 )妇女进行血清标记物 (AFP+Free-β- HCG)二项指标双标试剂盒检测 ,筛查结果应用 Multicalc软件计算唐氏综合征风险。唐氏综合征 (Down’s Syndrome,DS)风险切割值为 1∶ 2 74 ,当≥ 1∶ 2 74时为 DS高危孕妇 ,结合 B超、羊水或胎血进行诊断排除胎儿异常。结果 :产前筛查 36 85例孕妇 ,筛查 DS高危孕妇 2 2 0例 ,阳性率为 5 .97% ,有 118例接受了羊水或胎血产前诊断 ,发现胎儿染色体异常 11例 ,异常检出率为 9.32 % ,DS筛查 NTD高危 4 5例 ,阳性率为 1.2 2 %。在高危孕妇中 B超发现异常胎儿 10例。结论 :孕中期血清 AFP和 Free-β- HCG标记物是产前筛查异常胎儿的有效指标 ,再结合羊水或胎血、B超产前诊断对防止先天缺陷有实用性价值。
Objective: To investigate the practical value of Down’s screening and prenatal diagnosis in the prevention and reduction of chromosomal diseases and birth defects. Methods: The double-labeled kit of serum markers (AFP + Free-β-HCG) was used in the second trimester of pregnant women by the method of time-resolved fluorescence immunoassay. The screening results were calculated using Multicalc software Syndrome risk. Down’s Syndrome (DS) risk cut value of 1: 2 74, when ≥ 1: 2 74 for high-risk DS pregnant women, combined with B ultrasound, amniotic fluid or fetal blood to diagnose fetal abnormalities. Results: A total of 36 85 pregnant women were enrolled in prenatal screening. There were 220 cases of DS high risk pregnant women screening, the positive rate was 5.97%. 118 cases received prenatal diagnosis of amniotic fluid or fetal blood and found that there were 11 cases of fetal chromosomal abnormalities The detection rate was 9.32%. The high risk of NTD was 45 in DS screening, the positive rate was 1.2 2%. In high-risk pregnant women B ultrasound found abnormal fetus in 10 cases. Conclusion: The serum AFP and Free-β-HCG markers in the second trimester are effective indicators for prenatal screening of abnormal fetuses. Combined with amniotic fluid or fetal blood, B-prenatal diagnosis has practical value in preventing congenital defects.