目的:总结分析4 788例孕中期妇女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:采用全自动化学发光分析系统检测孕妇血清甲胎蛋白(AFP)和人绒毛膜促性腺激素(HCG)水平,并结合孕妇年龄、体重、孕周等计算出每个孕妇所生胎儿患以上两类疾病的风险率。结果:4 788例孕妇中,153例被筛查出有高风险,阳性率为3.47%(153/4 788),其中经羊水穿刺、四维彩超等被确诊并引产的有33例。结论:产前筛查大大提高了染色体异常和神经管畸形两类疾病的检出率,为提高人口素质、降低出生缺陷起到了重要作用。 OBJECTIVE: To summarize the screen coverage and diagnosis of 4 788 prenatal screening women with prenatal screening for chromosomal and neural tube defects. Methods: The serum levels of AFP and HCG in pregnant women were detected by automatic chemiluminescence analysis system. The fetuses born to each pregnant woman were calculated according to the age, weight and gestational age of pregnant women The risk of two types of diseases. Results: Among 4 788 pregnant women, 153 cases were screened out with high risk. The positive rate was 3.47% (153/4 788). Among them, 33 cases were confirmed by amniocentesis, four-dimensional ultrasonography and induced by labor. Conclusion: Prenatal screening has greatly increased the detection rate of chromosomal abnormalities and neural tube defects, which play an important role in improving population quality and reducing birth defects.