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目的评价唐氏综合征(DS)与神经管缺损产前筛查、诊断在预测胎儿发育异常情况和降低出生缺损中的价值。方法采用酶联免疫法检测血清甲胎蛋白和游离β-绒毛膜促性腺激素水平结合孕周、体重、年龄等因素计算风险率。建议DS高风险的孕妇取羊水或脐带血进行产前诊断,神经管缺损高危或筛查为低危孕妇联合超声筛查,随访其妊娠结局。结果 33 424例孕妇中筛查出DS高风险妊娠2 034例,阳性率6.09%;其中适龄孕妇阳性率为5.09明显高于高龄孕妇的36.31%(P<0.01)。1 183例高风险妊娠接受产前诊断确诊DS儿16例,漏筛5例。其中适龄孕妇确诊14例,漏诊4例;高龄妊娠确诊2例,漏诊1例。神经管缺损高风险335例,确诊神经管缺损胎儿8例,漏诊1例。结论孕中期血清学筛查是预测胎儿发育的有效方法,筛查为高危险的孕妇应进行产前诊断,未进行产前诊断或低风险者应联合超声筛查,这对降低出生缺损有着重要意义。
Objective To evaluate the value of prenatal screening for Down Syndrome (DS) and neural tube defects in the diagnosis of fetal developmental abnormalities and the reduction of birth defects. Methods Serum alpha-fetoprotein and free beta-chorionic gonadotropin levels were measured by enzyme-linked immunosorbent assay in combination with gestational age, body weight, age and other factors to calculate the risk. Proposed DS high risk pregnant women take amniotic fluid or umbilical cord blood for prenatal diagnosis, high risk of neural tube defects or screening for low-risk pregnant women combined ultrasound screening, follow-up of its pregnancy outcome. Results A total of 2 034 pregnant women with high risk of DS were screened out from 33 424 pregnant women, the positive rate was 6.09%. The positive rate of suitable pregnant women was 5.09, which was significantly higher than that of the pregnant women (36.31%, P <0.01). Among the 183 cases of high-risk pregnancies, 16 were diagnosed DS with prenatal diagnosis and 5 were missed. Among them, 14 cases were diagnosed by age-matched pregnant women, 4 cases were misdiagnosed; 2 cases were diagnosed in advanced pregnancy and 1 case missed diagnosis. There were 335 cases of high risk of neural tube defects, 8 cases of fetal neural tube defects and 1 case of missed diagnosis. Conclusion Serum screening in the second trimester is an effective method to predict fetal development. Prenatal diagnosis should be performed in pregnant women with high risk. Prenatal diagnosis or low-risk ultrasound should be combined with ultrasound screening, which is important in reducing birth defects significance.