BACs-on-Beads检测联合染色体核型分析在1950例孕妇产前诊断中的应用
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摘要
目的联合BACs-on-Beads检测和染色体核型分析,评估"BoBs+核型分析"模式在产前诊断中的应用。方法对2016年1月至2017年12月在我院接受侵入性产前诊断的1950例样本,进行BoBs检测和染色体核型分析,对常见的染色体数目异常和9种微缺失综合征进行产前诊断。结果在1950例胎儿羊水样本中,BoBs检测和染色体核型分析均能检出90例胎儿染色体数目异常,其中包括21三体综合征58例、18三体综合征15例、性染色体数目异常17例,BoBs检测结果与羊水细胞核型分析结果一致。BoBs检出1例Miller-Dieker微缺失综合征、2例DiGeorge-1微缺失综合征、1例Williams-Beuren微缺失综合征和1例7q11.23微重复综合征,染色体核型分析结果均未见异常。BoBs检测漏检了25例染色体核型分析检出的胎儿染色体异常,其中标记染色体2例,染色体易位4例、倒位16例,部分重复1例,两性嵌合体2例。结论 "BoBs+核型分析"模式具有快速和准确率高等优点,能够提高常见染色体数目异常及9种染色体微缺失综合症的检出率。
Objective:To assess the application value in prenatal diagnosis using"BoBs+karyotype analysis"model.Methods:From January 2016 to December 2017,1950 pregnant women were performed amniocentesis,Chromosome Karyotype Analysis and detection of BoBs were employed simultaneously for abnormal number of chromosomes and 9 chromosome microdeletion syndrome in prenatal diagnosis. Results:90 cases with fetal chromosome aneupoidies were successfully detected both Karyotype analysis and BoBs. including 58 cases of trisomy 21,15 cases of trisomy 18 and 17 cases with sex chromosome abnormality. while BoBs contributed 1 case of Miller-Dieker syndromes,2 cases of DiGeorge-1 syndromes,1 case of Williams-Beuren1 syndromes,1 case of 7 q11.23 microduplication syndrome. All 25 fetuses with chromosome structural abnormalities detected by karyotyping were missed by BoBs;Including 2 cases of Marker chromosomes,4 cases of Chromosomal translocation,16 cases of Chromosomal inversion,1 case of fractional replication,2 cases of Gender chimera Conclusion:"BoBs+ karyotype analysis" is a rapid and high accuracy prenatal diagnosis model that can be improve the detection rate of fetal chromosomal abnormalities and microdeletions.
Objective:To assess the application value in prenatal diagnosis using"BoBs+karyotype analysis"model.Methods:From January 2016 to December 2017,1950 pregnant women were performed amniocentesis,Chromosome Karyotype Analysis and detection of BoBs were employed simultaneously for abnormal number of chromosomes and 9 chromosome microdeletion syndrome in prenatal diagnosis. Results:90 cases with fetal chromosome aneupoidies were successfully detected both Karyotype analysis and BoBs. including 58 cases of trisomy 21,15 cases of trisomy 18 and 17 cases with sex chromosome abnormality. while BoBs contributed 1 case of Miller-Dieker syndromes,2 cases of DiGeorge-1 syndromes,1 case of Williams-Beuren1 syndromes,1 case of 7 q11.23 microduplication syndrome. All 25 fetuses with chromosome structural abnormalities detected by karyotyping were missed by BoBs;Including 2 cases of Marker chromosomes,4 cases of Chromosomal translocation,16 cases of Chromosomal inversion,1 case of fractional replication,2 cases of Gender chimera Conclusion:"BoBs+ karyotype analysis" is a rapid and high accuracy prenatal diagnosis model that can be improve the detection rate of fetal chromosomal abnormalities and microdeletions.
引文
[1]赵娟娟.构建新疆地区产前筛查与产前诊断防控体系的几点思考[J].国际检验医学杂志,2018,(18):2209-2211.
[2]Tanemura M,Suzumori K,Nishikawa N,et al.Multicolour spectral karyotyping for complex chromosomal rearrangememts in repeated abortion or congenital anomalies[J].Prenatal diagnosis,2001,21(13):1123-1128.
[3]代文成,蒋宇林,古丽娜孜·米吉提,刘璇,余珍,刘宁,王丽霞,马光娟.染色体核型分析联合BoBs检测在产前诊断中的应用[J].中华医学遗传学杂志,2018,35(3):357-360.
[4]余珍,代文成,魏洁,刘璇,李慧君,马光娟.BoBs检测联合染色体核型分析在1430例高危孕妇产前诊断中的应用[J].国际检验医学杂志,2018,39(18):2220-2222.
[5]Cheng YK,Wong C,Wong HK,et al.The detection of mosaieism by prenatal BoBs[J].Prenat Diagn,2013,33(1):42-49.
[6]American College of Obstetricians and Gynecologists Committee on Genetics.Committee Opinion No.581:the use of chromosomal microarray analysis in prenatal diagnosis[J].Obstet Gynecol,2013,122(6):1374-1377.
[7]梁德杨,陈瑛,王辉林,等.BACs-on-Beads:一种快速可靠的产前诊断技术[J].中华围产医学杂志,2014,12(3):840-844.
[8]Fernández L,Nevado J,Santos F,et al.A deletion and a duplication in distal 22q11.2 deletion syndrome region.Clinical implications and review[J].BMC Med Genet,2009,10:48.
[2]Tanemura M,Suzumori K,Nishikawa N,et al.Multicolour spectral karyotyping for complex chromosomal rearrangememts in repeated abortion or congenital anomalies[J].Prenatal diagnosis,2001,21(13):1123-1128.
[3]代文成,蒋宇林,古丽娜孜·米吉提,刘璇,余珍,刘宁,王丽霞,马光娟.染色体核型分析联合BoBs检测在产前诊断中的应用[J].中华医学遗传学杂志,2018,35(3):357-360.
[4]余珍,代文成,魏洁,刘璇,李慧君,马光娟.BoBs检测联合染色体核型分析在1430例高危孕妇产前诊断中的应用[J].国际检验医学杂志,2018,39(18):2220-2222.
[5]Cheng YK,Wong C,Wong HK,et al.The detection of mosaieism by prenatal BoBs[J].Prenat Diagn,2013,33(1):42-49.
[6]American College of Obstetricians and Gynecologists Committee on Genetics.Committee Opinion No.581:the use of chromosomal microarray analysis in prenatal diagnosis[J].Obstet Gynecol,2013,122(6):1374-1377.
[7]梁德杨,陈瑛,王辉林,等.BACs-on-Beads:一种快速可靠的产前诊断技术[J].中华围产医学杂志,2014,12(3):840-844.
[8]Fernández L,Nevado J,Santos F,et al.A deletion and a duplication in distal 22q11.2 deletion syndrome region.Clinical implications and review[J].BMC Med Genet,2009,10:48.