无创性产前基因测序技术在染色体非整倍体中的应用

目的探讨高通量并行测序技术在胎儿染色体非整倍体检测中的应用价值。方法2012年10月至2013年4月，生化血清学筛查唐氏高危或高龄孕妇，采用高通量测序技术对胎儿染色体非整倍体进行无创性产前检测，评估患病风险率，提示高危孕妇进行核型分析确诊。结果813例无创检测高危孕妇，13例提示异常高危，异常率为1．59％，其中4例21三体，3例18三体，6例性染色体。核型确诊4例均为21三体，准确度100％；2例18三体；1例47，XXY和1例47，XXX。结论基于高通量测序技术的方法能快速、准确、无创检测唐氏综合征，相对18三体和性染色体检测准确度和稳定性有待优化与提高。

The application of noninvasive prenatal genetic sequencing for chromosomal aneuploidy.

Objective： To discuss the value of massively parallel sequencing technology in the application of fetal aneuploidy detec- tion. Methods： From October 2012 to April 2013, biochemical serological screening for down syndrome high -risk or anvanced age pregnant women, using massively parallel sequencing to test and assess the risk rate of fetal chromosomal aneuploidy, positive cases were compared the results with karyotype. Results： 813 cases of high- risk pregnant women were enrolled and detected by massively parallel sequencing, 13 cases of fetuses were aneuploid, abnormal rate was 1.59%, including 4 cases of trisomy 21,3 cases of trisomy 18 and 6 cases of sex chromosomal aneuploidies. Based on the result of karyotype, four cases were trisomy 21 with the accuracy of 100% ; 2 cases of trisomy 18; one case of 47, XXY and one case of 47, XXX. Conclusion： The study showed a rapid and reliable approach for noninvasive prenatal detecting Down＇s syndrome, While the accuracy and stability for trisomy 18 and sex chromosome aneu- ploidies should be improved.