摘要
目的:探讨细菌人工染色体微珠标记技术(BACs-on-Beads^TM,BoBs)在基层产前诊断实践中的应用价值。方法:同时对1773份产前诊断标本进行染色体核型及BoBs分析。对BoBs检出的微缺失微重复样本,经患者知情同意后再进行染色体微阵列分析。结果:在5种非整倍体的检测中,BoBs共检出46例三体,16例性染色体异常,有4例BoBs结果正常而羊水核型分析提示为<20%的低比例嵌合。未检出常见的9种微缺失综合征,但检出14例Xp22微缺失男胎以及5例其他的微缺失/微重复,其中10例与染色体微阵列分析的结果均符合。结论:BoBs作为非整倍体的快速诊断技术具有较高的准确性,并有可能发现部分染色体微缺失微重复,其难点在于无法检出低比例嵌合以及对Xp22微缺失男胎的咨询。
Objective To explore the value of BACs-on-Beads^TM(BoBs)for the practice of prenatal diagnosis.Methods The results of chromosomal karyotyping and BoBs of 1773 prenatal samples were compared.Microdeletions and microduplications detected by BoBs were subjected to chromosome microarray analysis(CMA)with informed consent from patients.Results BoBs has detected 46 cases of common aneuploidies involving chromosomes 13,18,and 21,and 16 cases involving X and Y chromosomes.For 4 fetuses with normal results by BoBs,karyotyping analysis of amniotic fluid sample suggested low percentage mosaicisms(<20%).BoBs has detected none of the 9 common microdeletions,but 14 male fetuses with Xp22 microdeletions and 5 with other microdeletions/microduplications.In 10 cases,the couples had chosen CMA verification,and the results were all consistent.Conclusion As a rapid diagnostic technique,BoBs has a high accuracy for common aneuploidies,and is capable of discovering certain chromosome microdeletions and microduplications.The difficulty lies in the inability to detect low proportion mosaicisms and the consultation following detection for male fetuses carrying Xp22 microdeletions.
作者
曾艳
王婷
张涛
范佳鸣
张丽芳
钱飞燕
罗婷婷
陈伟萍
车铭
钱春芳
Zeng Yan;Wang Ting;Zhang Tao;Fan Jiaming;Zhang Lifang;Qian Feiyan;Luo Tingting;Chen Weiping;Che Ming;Qian Chunfang(Genetics Unit,Shaoxing Women and Children’s Health Care Hospital,Shaoxing,Zhejiang 312000,China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2020年第8期891-894,共4页
Chinese Journal of Medical Genetics
