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高通量测序在胎儿性染色体非整倍体异常检测中的临床应用 被引量:4

Clinical application of high throughput sequencing in abnormality detection of fetal sex chromosome aneuploidy
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摘要 目的探讨高通量基因测序技术在诊断胎儿性染色体异常中价值。方法选择2015年01月01日至2016年12月31日于盐城市妇幼保健院产前诊断中心行无创胎儿DNA检测8645例,对提示性染色体异常孕妇行侵入性产前诊断。结果 8645例NIPT孕妇,提示性染色体异常48例,筛查阳性率0.56%。其中42例行侵入性产前诊断,17例与筛查结果一致,其中(45,XO)4例,(47,XXX)5例,(47,XXY)4例,(47,XYY)4例,羊水培养失败1例,NIPT检测准确率41.46%(17/41)。结论 NIPT进行胎儿性染色体非整倍体异常的检测是可行的,但仍需侵入性诊断进一步确诊,NIPT对性染色体三体的准确性高于性染色体单体。 Objective:To investigate the value of high throughput gene sequencing in the diagnosis of fetal chromosomal abnormalities. Methods:8645 cases of noninvasive fetal DNA detection were performed in the prenatal diagnosis center of Yancheng Maternal and Child Health-Care Center from Jan. 1 st,2015 to Dec. 31 th,2016,and invasive prenatal diagnosis was performed for pregnant women with suggestive chromosomal abnormalities. Results:8645 cases of NIPT pregnant women showed 48 cases of sex chromosome abnormality,and the positive rate of screening was 0.56%. Among them,42 cases were invasive prenatal diagnosis,17 cases were consistent with the screening results,including(45,XO)4 cases,(47,XXX)5 cases,(47,XXY)4 cases,47 cases(XYY)4 cases,amniotic fluid culture failure 1 cases,NIPT detection accuracy rate 41.46(17/41). Conclusion:The detection of abnormal fetal chromosomal aneuploidy by NIPT is feasible,but it is still necessary for invasive diagnosis to be further diagnosed. The accuracy of NIPT on the trisomy of sex chromosomes is higher than that of the sex chromosome monosomes.
作者 李敏 王杜娟 周云 曹森杨 张庆娥 董晶晶 LI Min;WANG Du-juan;ZHOU Yun;CAO Sen-yang;ZItANG Qing-e;DONG Jing-fing(Yancheng Maternity and Child Health Care Hosital of Jiangsu Province Yancheng Jiangsu,22400)
出处 《中国优生与遗传杂志》 2018年第8期37-38,共2页 Chinese Journal of Birth Health & Heredity
关键词 高通量测序 性染色体 非整倍体异常 High throughput sequencing Sex chromosomes Aneuploidy
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