无创基因检测技术在产前诊断中的应用
Maternal & Child Health Care of China(2014)
Abstract
目的:探讨胎儿染色体非整倍体无创基因检测技术在产前筛查及产前诊断中的应用.方法:选择在医院行胎儿染色体非整倍体无创基因检测的单胎孕妇921例,对孕妇外周血中游离DNA进行高通量测序,对检测结果高风险者进行羊膜腔穿刺及胎儿染色体核型分析,对检测结果阴性者行电话随访.结果:921例孕妇无创基因检测结果高风险19例,包括21-三体9例,18-三体8例,13-三体2例.对19例高风险孕妇行羊膜腔穿刺羊水细胞染色体核型分析,结果显示21-三体的灵敏度100.0%,特异度100.0%,阳性预测率为100.0%,阴性预测率为100.0%; 18-三体的灵敏度100.0%,特异度99.9%,阳性预测率为87.5%,阴性预测率为100.0%.结论:无创基因检测不仅无唐氏综合征年龄、孕周的限制,也无介入性产前诊断流产等的风险,是一种安全、快捷、准确的产前诊断新技术.
MoreKey words
Chromosomal aneuploidy,Noninvasive gene detection,Prenatal screening,Prenatal diagnosis
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