论文部分内容阅读
目的:产前诊断染色体病患儿生育史及平衡易位核型携带者孕妇胎儿染色体结构是否正常。方法:收集孕妇及患儿的表型。孕妇外周血核型分析，联合应用胎儿羊水细胞染色体核型分析及拷贝数变异检测分析对后两次怀孕胎儿进行产前诊断。结果:孕妇外周血核型结果46，XX，t(5；6)(p15：p23)；一孩外周血核型结果46，XX，？der(5)t(5；6)(p15.32；p22.3)；二胎羊水染色体核型结果46，XN，t(5；6)(p15：p23)，拷贝数变异结果正常；三胎羊水染色体核型分析胎儿为46，XN，？der(5)t(5；6)(p15.32；p22.3)，拷贝数变异结果为5p15.33p15.32(20 000-6 060 000)缺失6.04 Mb和6p25.3p22.3(160 000-18 660 000)重复18.50 Mb。结论:染色体核型分析与高通量测序检测拷贝数变异技术联合使用可为平衡易位携带者孕妇提供精确的产前诊断。“,”Objective:To perform prenatal diagnosis for a women carrying a balanced translocation.Methods:Clinical phenotype of the woman and her first child was analyzed.Peripheral blood sample of the woman and amniotic fluid sample from two subsequent pregnancies were subjected to chromosomal karyotyping and copy number variation analysis through next-generation sequencing (NGS).Results:The karyotypes of the women and her first child were determined as 46, XX, t(5; 6)(p15: p23) and 46, XX, ? der(5)t(5; 6)(p15.32; p22.3), respectively. Karyotype of the amniocyte from her second pregnancy was 46, XN, t(5; 6)(p15: p23), with no pathogenic copy number variation detected.And that of her third pregnancy was 46, XN, ? Der(5)t(5; 6)(p15.32; p22.3), in addition with a 6.04 Mb deletion at 5p15.33p15.32(20 000-6 060 000) and a 18.50 Mb duplication at 6p25.3p22.3 (160 000-18 660 000).Conclusion:Combined karyotyping analysis and NGS can enable detection of fetal copy number variations for women carrying balanced chromosomal translocations.