目的总结分析余姚市2011年~2013年孕中期母血产前筛查染色体病和神经管畸形两类疾病的筛查覆盖率及确诊情况。方法对孕龄在15~20w的19 926例年龄<35岁孕妇进行唐氏综合征产前筛查,≥35岁孕妇直接进行产前诊断。结果筛查出高危孕妇862例,筛查阳性率4.33%,其中包括21-三体高危761例,18-三体高危38例,神经管畸形高危63例。对筛查获得的高风险孕妇862例及年龄≥35岁孕妇1761例进行咨询服务,其中开展产前诊断孕妇1053例,确诊9例21-三体综合征,1例18-三体综合征,7例神经管畸形。确诊畸形儿均及时终止妊娠。结论孕中期唐氏综合征产前筛查对先天缺陷胎儿作出了有效预测,有利于降低出生缺陷,提高人口素质,但仍有不足需不断完善。 Objective To summarize and analyze the screening coverage and diagnosis of two types of diseases of maternal blood screening of maternal blood from 2011 to 2013 in Yuyao City. Methods Prenatal screening for Down Syndrome was performed on 19 926 pregnant women <35 years of age who were at 15 ~ 20w gestational age. The pregnant women ≥35 years old were directly diagnosed prenatally. Results 862 pregnant women were screened out at high risk. The screening positive rate was 4.33%, including 761 cases with high risk of trisomy 21, 38 cases with high trisomy 18, and 63 cases with high risk of neural tube defects. A total of 862 pregnant women with high risk of screening and 1761 pregnant women ≥35 years of age were enrolled in this study. Among them, 1053 pregnant women were diagnosed prenatal diagnosis, 9 cases of 21 trisomy syndrome and 1 case of trisomy 18 were diagnosed, Seven cases of neural tube defects. Confirmed deformity children were terminated in time for pregnancy. Conclusion The prenatal screening of Down’s syndrome during the second trimester of pregnancy has made an effective prediction of the fetus with congenital defects, which will help to reduce the birth defects and improve the quality of the population. However, there are still some problems to be continuously improved.