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目的:探讨产前筛查在孕中期产前诊断中的价值。方法:2006年1月～2009年9月对2 880例孕16～20周的妇女行产前筛查,检测其血清中甲胎蛋白(AFP)、游离β绒毛膜促性腺激素(F-βHCG)和游离雌三醇(μE3)浓度,结合年龄、体重等因素,评定危险系数。高危孕妇进行羊膜腔穿刺,羊水细胞染色体核型检查以确诊。结果:共有2 880例孕妇接受筛查。其中筛出唐氏综合征(DS)高风险5例,经羊水细胞染色体核型分析确诊2例;18-三体高风险2例,确诊1例:神经管缺陷(NTD)高风险2例,确诊2例。所有筛查孕妇均随访至胎儿出生,1例筛查阴性的孕妇分娩唐氏儿。结论:产前筛查可提高先天缺陷儿的检出率,是提高出生人口素质的有效技术措施。
Objective: To investigate the value of prenatal screening in the prenatal diagnosis of second trimester. Methods: From January 2006 to September 2009, 2880 pregnant women with gestational age 16 to 20 weeks were enrolled in prenatal screening to detect serum AFP, free β-chorionic gonadotropin (F-βHCG ) And free estriol (μE3) concentrations, combined with age, weight and other factors, assess the risk factor. High-risk pregnant women for amniocentesis, amniotic fluid chromosome karyotype examination to confirm. RESULTS: A total of 2880 pregnant women were screened. Among them, 5 cases were diagnosed as high risk of Down Syndrome (DS), 2 cases were confirmed by karyotype analysis of amniotic fluid cells, 2 cases were high risk of 18-trisomy, 1 case was diagnosed: 2 cases of high risk of neural tube defects (NTD) 2 cases. All screening pregnant women were followed up until the fetus was born, and one negative pregnant woman gave birth to Down’s son. Conclusion: Prenatal screening can improve the detection rate of children with birth defects and is an effective technical measure to improve the quality of birth population.