Dai Wencheng, Jiang Yulin, Gulinazi Mijiti, Liu Xuan, Yu Zhen, Liu Ning, Wang Lixia, Ma Guangjuan
Prenatal Diagnose Center of Xinjiang Maternal and Child Health Hospital, Urumuqi, Xinjiang 830000, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Jun 10;35(3):357-360. doi: 10.3760/cma.j.issn.1003-9406.2018.03.011.
To assess the application value in prenatal diagnosis using karyotype analysis combined with BACs-on-Beads (BoBs) assay.
Nine hundred sixty five pregnant women were subjected to amniocentesis, chromosomal karyotype analysis and detection of BoBs were employed simultaneously for abnormal number of chromosomes and 9 chromosome microdeletion syndrome in prenatal diagnosis.
Fifty cases common chromosome aneupoidies were successfully detected by both karyotype analysis and BoBs which included 31 cases of trisomy 21,10 cases of trisomy 18 and 9 cases with sex chromosome abnormality. BoBs in addition detected 1 case of DiGeorge-1 microdeletion syndrome and 1 case of 7q11.23 microduplication syndrome. All 9 fetuses with chromosome abnormalities detected by karyotyping were missed by BoBs, including 2 cases of marker chromosomes,4 cases of chromosomal translocation,1 case of chromosomal inversion, 2 cases of Sex chromosome mosaicism; 2 cases of fetal inherited from the parents,7 cases for novel mutations.
Karyotype analysis combined with BoBs dedtection is a rapid, effective and highly accurate prenatal diagnosis model that may should be widely used in clinical diagnosis.
评估核型分析联合微珠阵列分析（BoBs）技术在产前诊断中的应用价值。
对965例孕妇进行羊水穿刺，同时采用染色体核型分析和BoBs技术检测产前诊断中染色体数目异常及9种染色体微缺失综合征。
核型分析和BoBs技术均成功检测出50例常见染色体非整倍体，其中21三体31例，18三体10例，性染色体异常9例。BoBs技术还检测出1例DiGeorge-1微缺失综合征和1例7q11.23微重复综合征。核型分析检测出的9例染色体异常胎儿，BoBs技术均未检测出，包括2例标记染色体、4例染色体易位、1例染色体倒位、2例性染色体嵌合体；2例胎儿染色体来自父母遗传，7例为新发突变。
核型分析联合BoBs检测是一种快速、有效且高度准确的产前诊断模式，应在临床诊断中广泛应用。
