2475例胎儿染色体核型检测及产前诊断指征分析

发布时间：2019-06-02 18:15

【摘要】：目的通过分析广州市出生缺陷干预工程中产前筛查高危孕妇的染色体核型及产前诊断指征,探讨广州市高危孕妇的胎儿常见异常核型、产前诊断指征以及妊娠结局。方法对2010年1月至2012年9月通过该所转诊的2 475例产前筛查高风险的孕妇进行羊膜腔或脐静脉血穿刺,细胞培养及染色体制片,G显带分析,产后随访。结果检测出染色体异常38例(21-三体12例,性染色体异常9例,平衡易位7例,18-三体5例,倒位2例,缺失2例,三倍体1例),异常率为1.54%;检测出染色体多态132例[1,9,16qh+60例,Inv(9)30例,D/Gs+25例,Y多态17例]。进行产前诊断的指征中,唐氏血清学筛查高风险因素668例、高龄因素449例、B超筛查异常因素158例、不良孕产史因素38例。结论 21-三体是本文比例最高的异常核型,唐氏血清学筛查高风险是最主要的产前诊断原因,对高危孕妇行胎儿染色体核型分析检测和系统B超排畸筛查均至关重要。
[Abstract]:Objective to analyze the chromosome karyotype and antenatal diagnosis indication of high risk pregnant women in Guangzhou birth defect intervention project, and to explore the common abnormal karyotype, antenatal diagnosis indication and pregnancy outcome of high risk pregnant women in Guangzhou. Methods from January 2010 to September 2012, 2 475 pregnant women with high risk of predelivery were examined by amniotic cavity or umbilical vein blood puncture, cell culture and chromosome preparation, G banding analysis and postpartum follow-up. Results 38 cases of chromosome abnormalities (12 cases of 21-trisomy, 9 cases of abnormal sex chromosomes, 7 cases of balanced translocation, 5 cases of 18-trisomy, 2 cases of inversion, 2 cases of deletion and 1 case of triploid) were detected. The abnormal rate was 1.54%. Chromosome polymorphism was detected in 132 cases [1, 9, 16 qh 60 cases of, Inv (9), 25 cases of D/Gs and 17 cases of Y polymorphism]. Among the indications of antenatal diagnosis, 668 cases of high risk factors, 449 cases of elderly factors, 158 cases of abnormal factors of B-ultrasound screening and 38 cases of bad pregnancy and delivery history factors were detected by Down's serological screening of 668 cases of high risk factors, 449 cases of elderly factors, 158 cases of abnormal factors by B-ultrasound screening. Conclusion 21-trisomy is the highest proportion of abnormal karyotype in this paper, and the high risk of Down's serological screening is the most important cause of antenatal diagnosis, which is very important for fetal chromosome karyotype analysis and systematic B-ultrasound teratology screening in high risk pregnant women.
【作者单位】：广州市人口和计划生育科学研究所;广州医科大学第三附属医院产前诊断科;
【基金】：国家十一五科技支撑计划基金资助项目(2006BAI05A02) 广东省计生委基金资助项目(2012256) 广东省科技厅科技基础条件建设基金资助项目(2010B060100014)
【分类号】：R714.5

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