Down’s综合征及胎儿某些严重缺陷的产前筛查

目的 ]　进行DS及胎儿某些严重缺陷产前筛查 ,提高DS检出率 ,减少产前诊断的盲目性。 方法 ]　用时间分辨荧光免疫分析法及AFP/freeβ -hCG药盒测定孕中期妇女血清AFP、游离 β -hCG ,并结合孕妇年龄、孕周、体重等 ,用MulticalcDown’s软件分析 ,得到该名孕妇怀DS风险率。对于筛查阳性孕妇作遗传咨询或确诊实验。 结果 ]　 85 95名孕妇中检得DS 5例 ,阳性病例检出率为 83.3% ,假阳性率 6 .0 %。其他胎儿异常 ,包括 18-三体 2例 ,18-环状 ,45 ,XO ,多倍体 ,无脑儿及胎儿腹壁缺损各 1例及 2 3例胚胎坏死。 结论 ]　孕妇血清标记物检测作为筛查DS及胎儿某些严重缺陷具有实效 ,对提高我国人口素质有积极意义。

Prenatal screening for Down's syndrome and certain fetal defects

Objective] To enhance the detection rate in prenatal screening for Down's syndrome(DS) and certain fetal defects. Methods] The maternal serum markers:MSAFP, free β-hCG in second trimester of pregnant women were measured by using AFP/Free hCGβ Dual kit with Tr-FIA. Using the DS Multicalc data management software, considering maternal weight, age and gestational week, the risk of respective baby with DS was measured. Results] 8595 pregnant women were screened at a risk cutoff value of 1∶350. 83.3% of DS could be detected. The flase-positive rate was 6.0% . There were five other chromosomal abnormality and twenty-five fetal defects detected. There were two 18 trisomy, 45, XO, 18 ring chromosome euploid, anencephaly and abdominal wall defects, etc. Conclusion] Measuring MSAFP and β-hCG with Tr-FIA is more effective in screening for DS and certain fetal defects.