620例唐筛阳性孕妇羊水穿刺结果分析 .docVIP

5997例母血胎儿游离DNA无创大规模平行测序筛查胎儿染色体数目异常 章 容，徐聚春，许欢欢，胡 斌，胡 华，姚 宏 （400038重庆第三军医大学西南医院妇产科，产前诊断中心）摘要目的对比观察母血胎儿游离DNA大规模平行测序（parallel sequencing ,MPS）无创筛查对常见染色体数目异常的检测能力。方法2011年6月共5997例孕妇参与本项研究，年龄1846岁，孕周1236周。抽取孕妇静脉血5m，分离胎儿游离DNA，常规arcoding建库，Illumina GAIIx测序，测序片段用基于二元假设的t检验和L-score分析。测序提示异常患者进行传统核型分析确认。结果5997例患者，母血胎儿游离DNA MPS提示染色体异常患者113例。提示异常的患者有89例做了核型对比分析， 21-三体符合率100%（28/28），18-三体符合率87.5%（7/8），性染色体异常符合率33.3%（14/42）。传统唐氏综合征筛查对21-三体的漏检率为11.8%（2/17），而MPS方法无一漏检。年龄和孕周对MPS的异常检出率没有显著影响。结论无创MPS检测对21-三体的筛查的准确性和可信度高，优于传统唐氏综合征筛查方法，适用于21-三体胎儿的产前初筛，以降低羊水/脐血穿刺有创检测比例。 关键词；染色体病；核型；大规模平行测序 Non-invasive MPS-based screening on chromosome abnormality for fetal free DNAs from 5997 pregnant mother Zhang Rong, Xu Juchun, Xu Huanhuan, Hu Bin, Hu Hua, Yao Hong Prenatal Diagnostics Center, Southwest Hospital, Third Military Medical University, Chongqing, 400038, China [Abstract] Objective To evaluate the detection rate of massively parallel sequencing MPS -based screening on chromosome abnormality for fetus free DNAs in their mother’s plasma, and provide clinical data for the non-invasive prenatal screening. Methods From June 2011 to November 2012, a total of 5997 pregnant women were recruited at Prenatal Diagnostics Center of Southwest Hospital, with age from 18 to 46 years, and gestational age from 12 to 36 weeks. Five milliliters of peripheral blood were drawn, the fetus DNAs were extracted from mother plasma and barcoded, the libraries of each samples were pooled and subjected to Illumina GA IIx analyzer. Short reads were analyzed by binary hypothesized t tests and L-score analysis. Positive results of MPS were validated by cordocentesis based karyaotyping.Results A total of 113 patients were tested abnormal by MPS. Among them, 89 patients accepted cordocentesis based karyaotyping, the sensitivity for trisomy 21 and trisomy 18 were 100% and 87.5% respectively. However, the sensitivity for sex chromosome abnormality was 33.3%. Routine screening for Down’s Syndrome showed a false n