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目的三体综合征(21三体,18三体,13三体)是严重危害人类健康的遗传病,共同的临床特征是患者智力低下伴多发畸形,居染色体病发病之首位。非侵入性无创DNA检测方法是目前比筛查准确可靠,而且减轻了孕妇心理负担,也是减少患儿出生的关键。方法自2012年8月我们与湖南家辉遗传专科医院,中国医学遗传中心,北京贝瑞和康生物技术有限公司合作,采用新一代高通量DNA测序技术,对母体外周血血浆中胎儿游离DNA片段进行深度测序,并将测序结果进行生物信息分析,从中得到胎儿的遗传信息,用于检测上述三种遗传性疾病。结果对257例孕妇进行无创DNA检测,提示253例正常,4例异常。其中:1例提示21-三体阳性,羊水结果证实(无假阳性,无假阴性)。1例提示18-三体阳性,羊水结果证实(无假阳性,无假阴性)。1例提示13-三体阳性,羊水结果正常(有假阳性,无假阴性)。1例提示母体性染色体异常,对孕妇外周血进行染色体检查,结果为46,XXX/46,XX(60%∶40%)(无假阳性,无假阴性)羊水结果提示胎儿正常。阳性率为1.56%,灵敏度99%以上。结论该方法完全在DNA分子水平上操作,测序过程和数据判读完全自动化,降低了人为干扰,有利于提高数据的均一性,适合大规模操作,跟传统产前检测方法相比大大降低了质量控制的难度。而且,这一非侵入性检测技术,在避免污染、感染、流产等风险的同时,极大的降低了孕妇及家属的心理担忧。
The purpose of trisomy (trisomy 21, trisomy 18, trisomy 13) is a serious risk to human health genetic disease, common clinical features of patients with mental retardation with multiple deformities, the highest incidence of chromosomal diseases. Noninvasive non-invasive DNA detection method is accurate and reliable than the screening, but also reduce the psychological burden of pregnant women, but also reduce the key to the birth of children. Methods Since August 2012, we cooperated with Hunan Jiahui Genetics Hospital, Chinese Medical Genetics Center and Beijing Bei Rui Kang Biotech Co., Ltd. in a new generation of high-throughput DNA sequencing technology to detect fetal free DNA in maternal peripheral blood plasma Fragments of the deep sequencing, sequencing and bioinformatics analysis, obtained from the fetus genetic information for the detection of the three genetic diseases. Results 257 pregnant women with noninvasive DNA testing, suggesting that 253 cases were normal and 4 cases were abnormal. Of which: 1 case prompted 21-trisomy positive amniotic fluid results confirmed (no false positive, no false negative). One case showed 18-trisomy positive, confirmed by amniotic fluid results (no false positive, no false negative). 1 case prompted 13-trisomy, normal amniotic fluid results (false positive, no false negative). A case of maternal chromosome abnormalities prompted pregnant women with peripheral blood chromosomal examination, the results were 46, XXX / 46, XX (60%: 40%) (no false positive, no false negative) amniotic fluid results prompted fetal normal. The positive rate of 1.56%, the sensitivity of more than 99%. Conclusion The method is fully operational at the molecular level of DNA. The sequencing process and data interpretation are completely automated, reducing human interference, improving data homogeneity, and being suitable for large-scale operation. Compared with traditional prenatal detection methods, this method greatly reduces quality control Difficulty. Moreover, this non-invasive detection technology greatly reduces the psychological worries of pregnant women and their families while avoiding the risks of pollution, infection and miscarriage.