佛山地区孕中期10263例血清学产前筛查结果分析

Analysis on prenatal serological screening results of 10263 women at second trimester of pregnancy in Foshan area

目的：探讨孕中期血清标记物筛查出生缺陷疾病的临床应用价值。方法：选择2006年1月2009年12月在佛山市第一人民医院就诊的孕1422周中期妊娠妇女10 263例,应用免疫化学发光法检测其血清标记物甲胎蛋白（AFP）、游离绒毛膜促性腺激素（Fβ-HCG）及游离雌三醇（uE3）水平。结果：10 263例孕妇中,唐氏综合征筛查高风险718例,占筛查总数的7.0%;神经管缺损（NTD）高风险51例,占筛查总数的0.5%。产前诊断确诊唐氏综合征7例,18-三体综合征2例,其他染色体异常16例,NTD 4例。高风险孕妇中未做产前诊断者发现1例唐氏综合征,低风险孕妇追踪随访发现唐氏综合征2例。结论：孕中期应用母血清三联生化指标进行无创性产前筛查降低出生缺陷率是有效的。

Objective：To explore the clinical application value of maternal serum markers in screening of birth defects at second trimester of pregnancy.Methods：10 263 pregnant women at 1422 gestational weeks who visited the hospital from January 2006 to December 2009 were selected,immunochemistry luminescence method was used to detect the levels of maternal serum markers including alpha-fetoprotein（AFP）,free beta-human chorionic gonadotrophin（Fβ-HCG） and unconjugated estriol（uE3）.Results：Among 10 263 pregnant women,718 pregnant women were found with high risk of Down’s syndrome,accounting for 7.0%;51 pregnant women were found with high risk of neural tube defect,accounting for 0.5%;7 cases,2 cases,16 cases and 4 cases were definitely diagnosed as Down’s syndrome,trisomy 18,other chromosome abnormalities and neural tube defect,respectively;among the high risk pregnant women who did not receive prenatal diagnosis,one case were found with Down’s syndrome,2 cases were found with Down’s syndrome during follow-up among the low risk pregnant women.Conclusion：Triple biomarkers of maternal serum at second trimester of pregnancy are effective in noninvasive prenatal screening in order to reduce the incidences of birth defects,combining with other prenatal screening techniques may improve the clinical efficacy of prenatal screening