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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14~22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,同时结合其他产前筛查技术可提高产前筛查效果。
Objective: To explore the clinical application of second trimester serum markers screening for birth defects. Methods: A total of 10 263 pregnant women aged 14-22 weeks of pregnancy from January 2006 to December 2009 in Foshan First People’s Hospital were enrolled. AFP, Free chorionic gonadotropin (Fβ-HCG) and free estriol (uE3) levels. Results: Of 10 263 pregnant women, Down syndrome was 718 high-risk, accounting for 7.0% of the total number of screening; 51 high-risk of neural tube defects (NTD), accounting for 0.5% of the total number of screening. Prenatal diagnosis of Down Syndrome in 7 cases, 18 cases of trisomy syndrome in 2 cases, 16 cases of other chromosomal abnormalities, 4 cases of NTD. One case of Down Syndrome was found in high-risk pregnant women without prenatal diagnosis, and 2 cases of Down’s syndrome were followed-up in low-risk pregnant women. CONCLUSION: It is effective to apply non-invasive prenatal screening to reduce the birth defect rate in the second trimester of pregnancy by using the triple biochemical markers of maternal serum. Combined with other prenatal screening techniques, the prenatal screening effect can be improved.