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[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 role of serum screening during second trimester pregnancy in the diagnosis of fetal trisomy 21, trisomy 18 and neural tube defects. [Methods] The serum bis-index (Free-β-hCG, AFP) of pregnant women at the second trimester (15-20 weeks) was detected by time-resolved fluorescence immunoassay. The pregnant women ’s age, weight and gestational age were calculated. value. The screening of high-risk pregnant women by prenatal genetic counseling, amniocentesis and prenatal ultrasound. [Results] Of the 28,450 pregnant women screened, there were 1 000 high-risk patients with a positive rate of 3.51%. Among them, 598 were high risk of trisomy 21, 136 were high risk of trisomy 18, 266 were high risk of neural tube defects . Among the high-risk pregnant women who voluntarily received amniocentesis, 7 cases of 21-trisomy syndrome and 4 cases of 18-trisomy syndrome were detected. There were 7 cases without brain and 2 cases with spina bifida in prenatal ultrasound. A total of 311 birth defects were detected through follow-up of all screening pregnant women. [Conclusion] The prenatal screening combined with prenatal diagnosis can effectively reduce the birth of children with chromosomal disease and neural tube defects, and is an effective screening method for population degeneration.