目的评估利用血清标志物对孕中期孕妇进行产前筛查,对于检出21-三体、18-三体和开放性神经管畸形等缺陷儿的应用价值。方法应用时间分辨免疫荧光技术检测青岛地区50 333例孕中期妇女血清甲胎蛋白(AFP)、人绒毛膜促性腺激素亚单位(β-HCG)及游离雌三醇(uE3)筛查指标,并结合孕妇的年龄、体重、孕周等因素进行分析,计算胎儿患21-三体、18-三体和开放性神经管畸形的风险率。对于高危孕妇结合B超检查、羊水培养及染色体分析等进行确诊。结果在50 333例孕妇中,共筛查出高风险2586例,假阳性率为5.1%。有1058例高风险孕妇进行了介入性产前诊断,产前诊断率为41%,确诊46例染色体异常患儿,其中14例21-三体,8例18-三体,7例性染色体异常,17例其他染色体异常。NTD高风险胎儿进行B超检查,确诊18例畸形儿。结论开展孕中期产前筛查、产前诊断能有效减少唐氏综合征等缺陷儿的出生,提高人口素质。 Objective To evaluate the value of serum markers for prenatal screening of pregnant women in the second trimester for the detection of defects such as 21-trisomy, 18-trisomy and open neural tube defects. Methods The serum levels of AFP, β-HCG and uE3 in 50 333 pregnant women in Qingdao were detected by time-resolved immunofluorescence. Combined with the age, weight, gestational age and other factors of pregnant women were analyzed to calculate the risk of fetal trisomy 21, trisomy 18 and open neural tube defects. High-risk pregnant women with B-ultrasound, amniotic fluid culture and chromosome analysis were confirmed. Results Of 50 333 pregnant women, 2586 cases were screened out at a high risk, with a false positive rate of 5.1%. Interventional prenatal diagnosis was performed in 1,058 high-risk pregnant women with a prenatal diagnosis of 41%. Forty-six patients with chromosomal abnormalities were identified, of which 14 had 21-trisomy, 8 had 18-trisomy, and 7 had chromosomal abnormalities , 17 other chromosomal abnormalities. NTD high-risk fetus B ultrasound examination, diagnosed 18 cases of deformed children. Conclusion The prenatal screening during the second trimester of pregnancy can reduce prenatal diagnosis of birth defects and improve the quality of the population.