单一产前诊断指征与胎儿染色体核型异常的关系分析

发布时间：2018-04-23 07:30

本文选题：产前诊断 + 羊膜腔穿刺术　；参考：《解放军医学杂志》2017年02期

【摘要】：目的探讨胎儿染色体异常的临床高危因素。方法回顾性分析2011年1月-2016年7月存在高龄、血清学筛查高风险和胎儿超声发育异常等单一产前诊断指征的4829例孕妇的临床资料。采用羊膜腔穿刺技术及胎儿染色体核型检测联合分析这些孕妇产前诊断指征与胎儿染色体异常发生的关系。结果单纯高龄组(n=1143)检出染色体核型异常57例,检出率5.0%;单纯血清学筛查高风险组(n=2367)检出染色体核型异常40例,检出率1.7%;单纯胎儿超声异常组(n=1319)共检出染色体核型异常57例,检出率4.3%,染色体多态性结构34例,检出率2.6%,其中胎儿心脏异常(333例)、羊水量异常(234例)、脑室扩张(89例)、胎儿心室强光点(898例)、脉络膜囊肿(34例)和肾盂增宽(18例)的核型异常检出率分别为6.9%(23/333)、8.5%(20/234)、1.1%(1/89)、1.1%(10/898)、5.9%(2/34)和5.6%(1/18)。结论高龄产妇、胎儿超声结构或软指标两项及以上异常并有其他畸形时,应当行产前诊断检查及结合家族史进行遗传咨询。
[Abstract]:Objective to investigate the high risk factors of fetal chromosomal abnormalities. Methods the clinical data of 4829 pregnant women with single prenatal diagnosis indication such as high risk of serological screening and fetal abnormal development of ultrasound were analyzed retrospectively from January 2011 to July 2016. Amniocentesis and fetal chromosome karyotyping were used to analyze the relationship between prenatal diagnosis and fetal chromosomal abnormalities. Results 57 cases of abnormal karyotype were detected in the elderly group (5.0%), 40 cases (1.7%) in the high risk group of serological screening (n = 40) and 57 cases in the group of abnormal fetal ultrasound (n = 1319). The detection rate was 4.3%, and 34 cases of chromosome polymorphic structure were found. The positive rate of karyotypic abnormality was 6.9m23 / 333.3338.38.53 / 1 / 1 / 1 / 1 / 1 / 1 / 1 / 1 / 10 / 89 / 89 / 1 / 10 / 10 / 89 / 1 / 10 / 10 / 89 / 89 / 21 / 10 / 10 / 89 / 9 / 21 / 10 / 10 / 89 / 10 / 10 / 10 / 89 / 9 / 234 of fetal ventricular dilatation, 898 / 898 / 898, choroidal cyst 34) and renal pelvis widening in 18 cases, respectively (P = 6.9T / 3338.38.58.53 / L = 1.1 / 1 / 89 / 1.10 / 8985.9 / 234) and 5.6r-1 / 18 respectively. Conclusion the prenatal diagnosis and genetic consultation should be carried out for the elderly women with abnormal ultrasonic structure or soft index and other malformations.
【作者单位】：第四军医大学西京医院妇产科;
【分类号】：R714.5

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