多指标联合唐氏筛查及其产前诊断在出生缺陷干预中的作用

目的通过多指标联合唐氏筛查和产前诊断以干预出生缺陷。方法在遗传咨询基础上对孕9-13^＋6周及孕15-20^＋6周孕妇行血清学唐氏筛查，高风险者直接行产前诊断；低风险但其它单项指标异常者先行四维彩超检查，如B超发现胎儿染色体病软标志者再行产前诊断。结果353例高风险者中有122例行产前诊断，确诊染色体异常3例；305例行四维彩超检查，有38例行产前诊断，确诊染色体异常2例。结论多指标联合产前筛查结合产前诊断可提高胎儿染色体病检出率，并可有效预防出生缺陷的发生。

The effect of combining Down syndrome multiple index and prenatal diagnosis on preventing birth defects

Objective Combining Down syndrome multiple index, prenatal screening and prenatal diagnosis toprevent birth defects. Methods Screened pregnant women between gestafional ages of 9-13^＋6 weeks and 15-20^＋6 weeks of Down syndrome on the basis of genetic counseling, and diagnose the high risk ones ; the low risk but individual index abnormal ones were examined by 4D CDU, then diagnose the ones with soft marker of fetal chromosomal abnormality. Results 122 eases in 353 high risk cases were prenatal diagnosed, in which 3 cases were detected as chromosomal abnormality; 305 cases were examined by 4D CDU, 38 cases of them were prenatal diagnosed, in which 2 cases were detected as chromosomal abnor-mality. Conclusion The combination of Down syndrome multiple index, prenatal screening and prenatal diagnosis would improve the detection rate of chromosomal abnormality and prevent the birth defects effectively.