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机构地区:[1]枣庄市妇幼保健院枣庄市产前诊断中心,山东枣庄277100
出 处:《中国优生与遗传杂志》2015年第11期66-68,共3页Chinese Journal of Birth Health & Heredity
摘 要:目的产前筛查结合羊水细胞染色体或脐血细胞染色体检测,进行以21-三体综合征为主的疾病检查,探求枣庄地区产前筛查风险率分布的线性特征。方法利用全自动时间分辨免疫荧光分析系统,对枣庄地区38 000例妊娠14-20+6w孕妇的血清标志物AFP、F-β-h CG、u E3进行测定,结合年龄、孕周、体重、既往妊娠史、有无糖尿病等指标,计算21-三体综合征、18-三体综合征和神经管缺陷疾病风险率。结果在38 000例筛查的孕妇中,高风险(风险值≥1/270)2679例,临界风险(风险值≥1/600)825例,高风险率为8.9%,临界风险率2.2%,其中峄城区的高风险率及临界风险率较其它区县偏高。同时发现,孕次多、年龄大、学历低、无固定工作等因素导致产前筛查高风险率与临界风险率升高。经产前诊断证实,胎儿染色体异常核型42例(19例21-三体综合征、7例18-三体综合征、2例13-三体综合征、3例平衡易位、3例臂间倒位、8例性染色体异常)。结论孕中期进行产前筛查非常必要,对预防和减少出生缺陷有重要作用,同时发现枣庄地区妇女的孕龄、居住环境、工作种类、生活习惯等因素与产前筛查风险率密切相关。Objectives:To give priority to with 21-three body syndrome disease screening through prenatal screening and amniotic fluid cells or umbilical cord blood cells chromosome detection and explore prenatal screening linear characteristics of the distribution of risk in zaozhuang. Methods:The use of fully automatic time-resolved immunofluorescence analysis system,Zaozhuang area of 38 000 cases of pregnant 14-20+6 weeks of pregnancy serum markers alpha-fetoprotein(AFP),human chorionic gonadotropin free β subunit(F-β-h CG)and free estriol(u E3)the determination,combined with age,gestational age,weight,previous history of pregnancy,with or without diabetes,and other indicators to calculate the risk of 21-three body syndrome disease,18-three body syndrome disease and neural tube defects rate. Results:The 38 000 cases of screening in pregnant women,the 2679 cases were high risk(1/270)and the critical risks(1/600)825 cases,high risk rate was 8.9%,the critical risk rate was 2.2%,and Yicheng of high risk and critical risk rate was higher than other counties. Because of pregnant once more,low age,educational background and no-fixed work,prenatal screening high-risk and critical risk rate was high. Confirmed by prenatal diagnosis,there were 42 fetal chromosomal karyotypes(19 cases of 21-three body syndrome,7 cases of 18-three body syndrome,2 cases of 13-three body syndrome,3 cases of balanced translocation,3 cases of inversion between arm and 8 cases of abnormal sex chromosome). Conlusion:Prenatal screening was necessary to prevent and reduce birth defects,and also found women′s gestational age,living environment,habits and other factors was closely related to prenatal screening in Zaozhuang.
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