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目的探讨孕中期唐氏综合征血清学检查在预防出生缺陷中的价值。方法对6546例孕14～20w孕妇进行血清学筛查,筛查出唐氏综合征高风险孕妇进行产前诊断,对神经管缺陷(NTD)高危孕妇进行系统超声检查。结果筛查6546例孕妇,筛查出唐氏综合征高风险孕妇210例,高风险率3.21%。NTD高风险45例,占筛查人数的0.68%。接受羊水检查129例(占总阳性数的61.4%),检出异常核型4例,占异常发生率3.1%。假阴性1例,占0.02%。NTD高风险行超声检查证实胎儿畸形4例,占筛查高危孕妇的10.1%。结论孕中期母体血清筛查对唐氏综合征的筛查是一种有效的检查项目。
Objective To investigate the value of serum screening for Down’s syndrome during the second trimester in the prevention of birth defects. Methods A total of 6546 pregnancies from 14 to 20 weeks of pregnancy were screened for serology. Prenatal diagnosis of pregnant women with Down’s syndrome at high risk was performed and the echocardiography was performed on pregnant women with high risk of neural tube defects (NTD). Results A total of 6546 pregnant women were screened, and 210 pregnant women with high risk of Down’s syndrome were screened out. The high risk rate was 3.21%. 45 cases of high risk of NTD, accounting for 0.68% of the number of screening. Amniotic fluid examination in 129 cases (61.4% of the total number of positive), detected in 4 cases of abnormal karyotype, accounting for an abnormal incidence of 3.1%. False negative in 1 case, accounting for 0.02%. NTD high-risk line ultrasound confirmed 4 cases of fetal malformations, screening for high-risk pregnant women 10.1%. Conclusion The screening of Down’s syndrome by maternal serum screening during the second trimester is an effective screening project.