[联合染色体核型分析和珠子上的细菌人工染色体检测在宁波高危孕妇产前诊断中的应用]
[Application of combined chromosomal karyotyping and BACs-on-Beads assay for the prenatal diagnosis of high-risk gravida from Ningbo].
作者信息
Shi Danhua, Zhang Lichao, Mao Qianqian, Zhou Ying, Xu Lingling, Lu Liping, Lu Wenbo
机构信息
Ningbo Key Laboratory of Maternal-Fetal Medicine Research, Department of Laboratory Medicine, Ningbo Women and Children's Health Care Hospital, Ningbo, Zhejiang 315012, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Apr 10;35(2):236-239. doi: 10.3760/cma.j.issn.1003-9406.2018.02.020.
OBJECTIVE
To assess the value of combined chromosomal karyotyping and BACs-on-Beads(BoBs) assay for the prenatal diagnosis of high risk gravida from Ningbo.
METHODS
For 2779 women, results of conventional karyotyping analysis and BoBs assay were compared.
RESULTS
For common aneuploidies involving chromosomes 13, 18, 21, X and Y, the two methods have yielded a concordance rate of 98.78%. Eight cases detected with microduplication by BoBs were missed by karyotyping analysis. On the other hand, 17 structural chromosomal abnormalities, 10 chimeras and 1 triploidy detected by karyotyping analysis were missed by BoBs.
CONCLUSION
The BoBs technology has featured high throughput and rapidity, and can detect 9 microdeletion syndromes, which can improve the quality of prenatal diagnosis and provide an ideal complementary for conventional chromosomal karyotyping.
目的
评估染色体核型分析联合微阵列比较基因组杂交技术（BACs-on-Beads，BoBs）对宁波地区高危孕妇产前诊断的价值。
方法
对2779例孕妇的常规核型分析结果与BoBs检测结果进行比较。
结果
对于13、18、21、X和Y染色体常见非整倍体，两种方法的符合率为98.78%。BoBs检测出的8例微重复病例，核型分析未检出。另一方面，核型分析检测出的17例染色体结构异常、10例嵌合体和1例三倍体，BoBs未检出。
结论
BoBs技术具有高通量、快速的特点，能检测9种微缺失综合征，可提高产前诊断质量，为传统染色体核型分析提供理想的补充。
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