摘要
选择行无创产前检测的孕妇共6 064例,利用Ion torrent半导体测序技术进行孕妇外周血胎儿游离DNA检测,并对阳性病例进行羊水染色体核型分析,对所有研究病例随访新生儿结局。检测结果异常者共49例,其中21-三体综合征27例、18-三体综合征18例、13-三体综合征4例。其灵敏度和特异度分别为:21-三体综合征96. 3%、95%,18-三体综合征100%、93. 3%,13-三体综合征100%、100%。具有较高的灵敏度及特异度,有较高的推广价值。同时,该技术仍存在一定的假阳性及假阴性,应进一步结合其他产前诊断方法做出更准确判断。
A total of 6 064 pregnant women who performed non-invasive prenatal testing were selected.The cell free fetal DNA in maternal blood was tested by Ion torrent semiconductor sequencing.Amniocenteses were taken in patients with positive results,and for all patients the follow-up visits were carried out.49 patients were found with positive results by Ion torrent semiconductor sequencing.After checked by amniocentesis and follow-up visit,the sensitivity and specificity of this technology for trisomy 21,18 and 13 were 96.3%/95%,100%/93.3%,100%/100%,respectively.Using Ion torrent semiconductor sequencing to detect cell-free fetal DNA applied to prenatal aneuploidy screening as noninvasive has high sensitivity and specificity.However,there are still some false positives and false negatives in this technique,which should be combined with other prenatal diagnostic methods to make more accurate judgments.
作者
杨媛媛
何文竹
袁静
李莉
尹宗智
Yang Yuanyuan;He Wenzhu;Yuan Jing(Dept of Obstetrics and Gynecology,The First Affiliated Hospital of Anhui Medical University,Hefei 230022;Anhui Province Key Laboratory of Reproductive Health and Genetics,Hefei 230022;Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs,Hefei 230022)
出处
《安徽医科大学学报》
CAS
北大核心
2018年第11期1795-1797,共3页
Acta Universitatis Medicinalis Anhui
基金
安徽高校自然科学研究项目(编号:KJ2015A312)
