产前BoBs快速诊断技术与染色体核型分析联合应用的临床价值  

The value of a novel prenatal diagnosis model with combination of karyotyping and BACs-on-Beads^TM technique

作　　者：牟凯[1] 刘轶[1] 魏欣[1] 

机构地区：[1]山东省淄博市妇幼保健院遗传病实验室,255000

出　　处：《中华医学遗传学杂志》2017年第3期332-335,共4页Chinese Journal of Medical Genetics

摘　　要：目的研究细菌人工染色体微珠（BACs—on-Beads^TM，BoBs）快速诊断技术联合染色体核型分析在高危孕妇产前诊断中的应用价值。方法对2015年3月至2016年7月在山东省淄博市妇幼保健院进行侵入性产前诊断的1048例单胎孕妇采集羊水，同时进行羊水细胞的染色体G显带核型分析和产前BoBs分析，对胎儿染色体异常及常见微缺失综合征进行诊断。结果排除1例羊水细胞培养失败样本，余下1047例样本中，产前BoBs技术成功检测出43例常见的染色体三体、3例嵌合染色体和4例染色体结构异常，其中3例染色体微缺失／微重复未被核型分析检出；除了额外检出1例罗伯逊易位，核型分析对其他胎儿染色体数目异常的检出结果均与BoBs一致；此外，核型分析还额外检出8例胎儿染色体结构异常和2例低比例嵌合染色体。结论产前BoBs快速诊断技术和染色体核型分析相互补充和验证，提高胎儿染色体异常和常见染色体微缺失／微重复的检出率，值得临床推广和应用。Objective To explore the value of a novel prenatal diagnosis model using combined chromosomal karyotyping and BACs-on-Beads^TM （BoBs）, a newly-developed technique. Methods 1048 single pregnancy pregnant women with various diagnostic indications were performed amniocentesis for prenatal diagnosis with karyotyping and BoBs simultaneously. Results Among 1047 successfully cultured specimens, 50 chromosomal abnormalities were identified with BoBs, including 43 common chromosomal trisomies, 3 chimeric chromosomes and 4 structural abnormalities, of which 3 microdeletions/ microduplications were not detected with karyotyping. Except for extra yield of 1 Robertsonian translocation, the other numerical chromosomal abnormalities were detected with both karyotyping and BoBs. Ten fetal chromosome abnormalities were confirmed with karyotyping, including 8 structural abnormalities and 2 chimeric chromosomes. Conclusion Combination of karyotyping and BoBs turned out to be a rapid, complementary and effective diagnostic model for fetal chromosomal abnormalities and microdeletion syndromes, which could yield a higher detection rate of fetal chromosomal abnormalities and chromosomal microdeletions/microduplications.

关 键 词：产前诊断 染色体核型分析 细菌人工染色体微珠技术 染色体异常 染色体微缺失综合征 

分 类 号：R440[医药卫生—诊断学] R714.5[医药卫生—临床医学]