Objective To assess the value of combined BACs-on-BeadsTM (BoBs) and chromosomal karyotyping for the diagnosis of women with high-risk pregnancy.Methods For 1371 women with singleton pregnancy and various indications for prenatal diagnosis,karyotyping and BoBs were simultaneously applied on their amnionic fluid samples.Results In total 23 cases of trisomy 21,11 cases of trisomy 18,5 cases of sex chromosome aneuploidies,6 cases of microdeletions/microduplications,2 cases of chimeric chromosomes and 1 case of structural chromosomal abnormality were detected by the BoBs assay,among which the 6 microdeletions/microduplications were not detected by karyotyping.Karyotyping analysis has identified an extra yield of 19 chromosomal abnormalities and 34 chromosomal polymorphisms.Conclusion Combined use of BoBs and chromosomal karyotyping can improve the detection rate of fetal chromosomal abnormalities including microdeletions/microduplications,which should find a wider use in the clinics.%目的 评估联合应用细菌人工染色体微珠标记(BACs-on BeadsTM,BoBs)检测及染色体核型分析对于诊断高危孕妇胎儿染色体异常的价值.方法 采集1371例单胎高危孕妇的羊水样本,同时进行染色体核型分析和BoBs检测.结果 BoBs技术成功检测出23例21三体、11例18三体、5例性染色体三体、6例染色体微缺失/微重复、2例嵌合型染色体和1例染色体结构异常,其中6例染色体微缺失/微重复未被染色体核型分析检出.BoBs对胎儿常见三体的检测结果与染色体核型分析结果一致.核型分析另外检出19例胎儿染色体异常和34例胎儿染色体多态性.结论 将BoBs技术与染色体核型分析联合用于高危孕妇的产前诊断,可提高胎儿染色体异常及微缺失/微重复综合征的检出率.
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