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无创DNA产前检测在胎儿染色体非整倍体疾病筛查中的应用 预览 被引量:3

Application of non-invasive DNA prenatal detection in the fetal chromosomal aneuploidy screening
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摘要 目的 探讨无创DNA产前检测技术在胎儿染色体非整倍体疾病产前筛查中的临床应用价值.方法 回顾性分析2014年6月至2015年11月在广东省妇幼保健院医学遗传中心行无创DNA产前检测的5946例孕妇的临床资料,并结合孕妇的血清学唐氏筛查、介入性产前诊断、妊娠结局随访等结果进行综合分析.结果 5946例孕妇中,无创DNA产前检测提示62例异常,其中21-三体高风险17例,18-三体高风险10例,13-三体高风险3例,性染色体异常15例,其他染色体异常17例.经介入性产前诊断确诊21-三体综合征15例,18-三体综合征9例,13-三体综合征1例,性染色体异常10例,其他染色体异常1例.此外,5例无创DNA产前检测提示为三体高风险者,经穿刺确认结果为阴性,妊娠结局随访未见异常;2例无创DNA产前检测提示为阴性,而经穿刺确认结果为18-三体高风险者.该技术进行胎儿染色体非整倍体体筛查的灵敏度为92.59%,特异度为99.92%,假阳性率为0.08%,假阴性率为7.41%.结论 无创DNA产前检测对胎儿染色体非整倍体疾病的检出率高,其在临床的推广应用对出生缺陷率的降低有重要意义. Objective To explore the clinical application value of non-invasive DNA prenatal detection in the fetal chromosomal aneuploidy screening .Methods Retrospective analysis was conducted on the clinical da-ta of 5946 pregnant women receiving non-invasive DNA prenatal detection in the Medical Genetic Center of Maternal and Child Health Care Hospital from June 2014 to November 2015 .The comprehensive analysis was carried out on the basis the results of Serological Dow n′s screening ,interventional prenatal diagnosis and preg-nancy outcome follow-up of pregnant women .Results Among 5946 pregnant women ,62 cases of abnormality were found by non-invasive DNA prenatal detection .Among them ,17 cases were 21 trisome ,10 were 18 tri-some ,3 were 13 trisome .Besides ,there were 15 cases with sex chromosome abnormality and 17 cases with oth-er chromosome abnormality .With the invasive prenatal diagnosis ,15 cases were confirmed as 21 trisome ,9 ca-ses as 18 trisome ,1 case as 13 trisome ,10 cases as sex chromosome abnormality ,and 1 case as other chromo-some abnormality .In addition ,5 cases were suggested to be high risk of trisomy by non-invasive DNA prenatal detection .However ,the results were negative confirmed by puncture diagnosis and no abnormality was found in the follow-up concerning pregnancy outcomes .The results of 2 cases were showed negative by non-invasive DNA prenatal detection ,were showed high risk of 18 trisome by further invasive prenatal diagnosis .In the study ,the sensitivity rate and the specificity rate of non-invasive DNA prenatal detection for fetal aneuploidy were 92 .59% and 99 .92% respectively ,and the false positive rate and the false negative rate were 0 .08% and 7 .41% ,respectively .Conclusion Non-invasive DNA prenatal detection has high detection rate for fetal chro-mosomal aneuploidy screening .And its clinical application have important significance for decreasing the rate of birth defects .
作者 侯亚萍 杨洁霞 郭芳芳 齐一鸣 彭海山 王东梅 欧阳浩新 尹爱华 HOU Yaping1,2, YANG Jiexia1,2, GUO Fangfang1,2, QI Yiming1,2, PENG Haishan1,2, WANG Dongmei1,2, OUYANG Haoxin1,2, YIN Aihua1,2 (1. Medical Genetic Center ,Guangdong Women and Children Hospital, Guangzhou, Guangdong 511442, China , 2. Maternal and Children Metabolic Genetic Key Laboratory ,Guangzhou ,Guangdong 511442, China)
出处 《检验医学与临床》 CAS 2018年第11期1542-1544,1548共4页 Laboratory Medicine and Clinic
基金 "十三五"重点研发计划"生殖健康及重大出生缺陷防控研究"专项课题三资助项目(2016YFCI000703),广东省医学科学技术研究基金资助项目(B2017057).
关键词 无创DNA产前检测 染色体非整倍体 三体综合征 高风险 non-invasive DNA prenatal detection chromosomal aneuploidy trisomy syndrome high risk
作者简介 侯亚萍,女,主管技师,主要从事分子遗传领域的临床应用研究.;通信作者,Email:yinaiwa@vip.126.com
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