产前筛查先天性缺陷与胎儿染色体异常的研究

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目的:探讨孕中期血清标志物在产前筛查先天性缺陷与胎儿染色体异常中的作用和价值。方法:对2 555例孕中期(14~22周)孕妇血清AFP、β-hCG、和uE3三项指标进行检测,并结合孕妇年龄、孕周、体重、是否双胎、有无糖尿病等,采用仪器配套软件计算风险概率,对高风险孕妇进行染色体检查确认。结果:2 555例孕妇中筛查出唐氏综合征高风险210例,占8.2%,18-三体高风险26例,占1.0%,NTD高风险29例,占1.1%,高风险孕妇中有207例自愿进行了羊水细胞染色体检查或胎儿脐血染色体检查,检测出染色体异常核型12例,异常率为5.8%。结论:孕中期血清三联标志物筛查胎儿先天缺陷是行之有效的方法,可以作为产前筛查的常规手段。 Objective: To explore the role and value of second trimester serum markers in prenatal screening for congenital defects and fetal chromosomal abnormalities. Methods: Serum AFP, β-hCG, and uE3 were detected in 2 555 pregnant women at the second trimester of pregnancy (14-22 weeks). Combined with the age, gestational age, weight, twins and diabetes mellitus, Instrument software to calculate the risk of risk, high risk pregnant women for chromosomal examination confirmed. Results: A total of 2 555 pregnant women were screened for 210 cases of Down’s syndrome (8.2%), high risk of 18-trisomy (26%), accounting for 1.0%, high risk of NTD in 29 cases (1.1%), high risk pregnant women 207 cases of voluntary amniotic fluid cell chromosome examination or fetal cord blood chromosome examination, detection of chromosomal abnormal karyotype in 12 cases, the abnormal rate was 5.8%. Conclusion: It is an effective method to screen the triad of the third trimester markers of fetal birth defects and can be used as a routine measure of prenatal screening.
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