孕妇孕中期产前筛查28450例随访分析

Follow-up analysis on prenatal screening in 28450 cases of middle period pregnancy

[目的]评价孕中期孕妇血清筛查在诊断胎儿21-三体综合征、18-三体综合征和神经管畸形中的作用。[方法]应用时间分辨荧光免疫技术检测孕中期(15～20周)孕妇血清中的二项指标(Free-β-hCG、AFP),结合孕妇的年龄、体重、孕周,用专用软件计算风险值。对筛查出的高风险孕妇经优生遗传咨询,行羊水穿刺和产前超声检查。[结果]在筛查的28 450孕妇中,检出高风险1 000例,阳性率为3.51%,其中21-三体高风险598例,18-三体高风险136例,神经管畸形高风险266例。自愿接受羊水穿刺的高风险孕妇中,检出21-三体综合征7例,18-三体综合征4例;产前超声检出无脑儿7例,脊柱裂2例。通过对所有筛查孕妇的随访共发现311例出生缺陷。[结论]通过产前筛查,结合产前诊断可以有效减少染色体病和神经管畸形患儿的出生,是降低出生缺陷有效的群体筛查方法。

[ Objective] To evaluate the function and value of prenatal screening in the diagnosis of 21-trisomy syndrome, 18 -trisomy syndrome and neural tube defect. [Methods] Serum samples were collected during middle period pregnancy（ 15 -20 week） and free-β-human chorionic gonadot ropin （free- β-HCG） and alphafetoprotein（AFP） level were determined by time-resolved fluoroimmunoassay （TR-FIA, or DELFIA） method. In combination with gestational age, weight, and age, we evaluated the risk assess- ment with assessment software. The pregnant women found with high risk in screening by eugenic genetic counseling were examined by amniocentesis and prenatal ultrasound. [ Results ] Of the 28 450 pregnant women through prenatal screening, 1000 were found to have high risk, the positivity rate being 3.51%. The calculated results showed that 598 and 136 cases were with high risk of 21-trisomy syndrome and 18-trisomy syndrome in 28 540 test samples, respectively. Among high risk pregnant women who voluntarily accepted amnioeentesis, 7 and 4 eases were with high risk of 21 trisomy syndrome and 18 trisomy syndrome, respec- tively. Two cases of anencephalus and 7 cases of spina bifida were detected by prenatal ultrasound. Three hundred and eleven cases of birth defects were detected in the follow-up pregnant women by prenatal screen- ing. [ Conclusion] The results in this study indicate that prenatal screening of middle period serum of pregnant women combined with prenatal diagnosis can reduce the risk of birth defects incidence and is the effective screening method to reduce birth defect.