Mou Kai, Liu Yi, Wei Xin
Genetic Disease Laboratory, Zibo Maternal and Child Health Care Hospital, Zibo, Shandong 255000, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Jun 10;34(3):332-335. doi: 10.3760/cma.j.issn.1003-9406.2017.03.004.
To explore the value of a novel prenatal diagnosis model using combined chromosomal karyotyping and BACs-on-Beads(BoBs), a newly-developed technique.
1048 single pregnancy pregnant women with various diagnostic indications were performed amniocentesis for prenatal diagnosis with karyotyping and BoBs simultaneously.
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.
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.
探讨一种新型产前诊断模型的价值，该模型采用联合染色体核型分析和新近开发的技术——珠子上的细菌人工染色体（BoBs）。
对1048例有各种诊断指征的单胎妊娠孕妇进行羊膜腔穿刺术，同时进行核型分析和BoBs产前诊断。
在1047例成功培养的标本中，BoBs检测出50例染色体异常，包括43例常见染色体三体、3例嵌合染色体和4例结构异常，其中3例微缺失/微重复核型分析未检测到。除额外检出1例罗伯逊易位外，其他染色体数目异常核型分析和BoBs均能检测到。核型分析确诊10例胎儿染色体异常，包括8例结构异常和2例嵌合染色体。
核型分析和BoBs联合应用是一种快速、互补且有效的胎儿染色体异常和微缺失综合征诊断模型，可提高胎儿染色体异常及染色体微缺失/微重复的检出率。
