细菌人工染色体微珠联合染色体核型分析在产前诊断中的价值研究

目的探讨细菌人工染色体微珠(BACs-on-Beads,BoBs)联合染色体核型分析在产前诊断中的价值。方法2016年6月至2019年1月在本院接受侵入性产前诊断的2500例单胎妊娠孕妇作为研究对象,均采集羊水。同时进行羊水细胞的BoBs检测和染色体G显带核型分析。结果BoBs技术共检出93例胎儿染色体异常,检出率为3.72%,其中染色体数目异常78例(4例13号染色体三体,19例18号染色体三体,34例21号染色体三体,9例XXX,6例XXY,6例XYY)、染色体结构异常9例(6例未被核型分析检出)、嵌合型染色体6例。在6例染色体结构异常的胎儿中,DiGeorge综合征和Williams-Beuren综合征各1例,其余4例为染色体微缺失/微重复综合征。核型分析对胎儿异常的检出率为4.56%(114/2500),核型分析对染色体数目异常的检出率与BoBs检测相同。核型分析额外检出21例染色体结构异常和6例嵌合型染色体。结论染色体核型分析联合BoBs技术发挥了细胞遗传学和分子遗传学的技术优势,极大提高了染色体异常的检出率,值得在临床应用和推广。

A Study on the Value of Bacterial Artificial Chromosomal Beads Combined with Karyotype Analysis in Prenatal Diagnosis

Objective To explore the value of BACs-on-Beads(BoBs)combined with karyotype analysis in prenatal diagnosis.Methods Amniotic fluid was collected from 2,500 single pregnancy pregnant women who received invasive prenatal diagnosis in our hospital from June,2016 to January,2019.At the same time,the BoBs detection and G-banding karyotype analysis of amniotic fluid cells were carried out among these subjects.Results 93 cases of fetal chromosomal abnormalities were detected by BoBs technique,with the detection rate 3.72%.Among them,78 cases of chromosomal number abnormality(4 cases of trisomy 13,19 cases of trisomy 18,34 cases of trisomy 21,9 cases of XXX,6 cases of XXY and 6 cases of XYY),6 cases of chromosomal structure abnormality(not detected by the karyotype analysis)and 6 cases of chimeric chromosome were found.Of the 6 fetuses with abnormal chromosome structure,1 was DiGeorge syndrome and 1 was Williams Beuren syndrome,while the other 4 were chromosome microdeletion/microduplication syndrome.The detection rate of karyotype analysis was 4.56%(114/2500),and the detection rate of chromosome number abnormality was the same as that of BoBs.In addition,21 chromosome structural abnormalities and 6 chimeric chromosomes were detected by the karyotype analysis.Conclusion Chromosomal karyotype analysis combined with BoBs technology has technical advantages based on knowledge of cytogenetics and molecular genetics,which can greatly improve the detection rate of chromosomal abnormalities,and is worthy of clinical application and promotion.