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4987例孕妇产前细胞遗传学诊断结果与产前诊断指征分析

An analysis on chromosomal karyotype and prenatal diagnosis indications from 4987 pregnant woman
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摘要 目的探讨不同产前诊断指征进行羊水穿刺或脐带穿刺时对胎儿染色体疾病诊断的临床价值。方法回顾性分析2013年7月-2016年3月在湖南省妇幼保健院接受产前诊断的4987例孕妇的临床资料,所有孕妇均具有单独穿刺指征,比较不同穿刺指征对胎儿染色体疾病的检出率。结果 4987例接受产前诊断的孕妇中经染色体核型分析确诊为染色体异常527例,检出率10.57%(527/4987)。在产前筛查阳性为穿刺指征中,NIPT阳性组检出率最高,为68.19%,其次是超声异常组,检出率7.33%,再次为血清筛查异常组,检出率4.46%;夫妻一方染色体异常、孕妇高龄及不良孕产史分别170、488、322例,检出率分别为20.00%(34/170)、3.69%(18/488)、2.17%(7/322)。各穿刺指征中,无创产前DNA检测阳性组及夫妻一方染色体异常组胎儿染色体异常疾病的检出率较高,差异有统计学意义(P〈0.01)。结论无创产前DNA检测对筛查胎儿染色体疾病有较好的临床价值,夫妻一方染色体异常者应重视对胎儿染色体疾病的检查。 Objective:To investigate the clinical value of prenatal diagnosis indications to amniocentesis and umbilical cord puncture in the diagnosis of fetal chromosomal diseases. Methods:A retrospective analysis of the clinical data of 4987 cases of pregnant women in Hunan Province Maternal and child health care hospital for prenatal diagnosis from July 2013 to March 2016,all pregnant women have purely puncture indications,to compare the detection rate of different puncture indications for fetal chromosomal diseases. Results:4987 cases of prenatal diagnosis by karyotype analysis confirmed that 527 cases had chromosomal abnormalities,the detection rate was 10.57%(527/4987). In prenatal screening positive indications for puncture,the highest detection rate was NIPT positive group(68.19%),followed by abnormal group(7.33%),again for serum screening abnormal group(4.46%). One of the spouses chromosomal abnormal group、elderly pregnant women group and having abnormal pregnancy group respectively were 170、488、322 cases,the detection rate was 20%(34/170),3.69%(18/488),2.17%(7/322)respectively. In the puncture indications,no-invasive prenatal testing DNA test positive group and one of the spouses chromosomal abnormal group detection rate is higher,the difference was statistically significant(P〈0.01). Conclusion:No-invasive prenatal testing DNA has good clinical value of screening for fetal chromosomal disease,abnormal chromosomal couples should pay attention to the fetal chromosomal disease inspection.
作者 张军辉 田艾军 骆迎春 黄晓靓 胡浩 何思 ZHANG Jun-hui, TIAN Ai-jun, LUO Ying-chun, HUANG Xiao-liang, HU Hao, HE Si. (Department of Ultrasound, Hunan Provincial MaternalandChildHealthCareHospital, Changsha, Hunan, 410008, China)
出处 《中国优生与遗传杂志》 2018年第5期69-70,44共3页 Chinese Journal of Birth Health & Heredity
基金 湖南省卫生计生委科研计划(B2016064) 湖南省自然科学基金(2017JJ2143)
关键词 核型分析 产前诊断 染色体异常 Karyotyping Prenatal diagnosis Chromosomal abnormalities
作者简介 通讯作者:黄晓靓
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