摘要
目的探讨核型分析及基于下一代测序技术的基因组拷贝数变异测序(copy number variation sequencing,CNV-seq)对于孕中期产前诊断的诊断价值。方法对215例孕中期胎儿羊水同时行染色体核型分析及CNV-seq检测。结果215例胎儿羊水标本中,染色体核型分析共检出4例异常核型(1.86%),其中2例特纳综合征,1例克氏综合征的嵌合体,以及1例平衡易位。在211例核型分析正常的标本中,CNV-seq额外检出了23例CNVs(10.69%),检出23例染色体微缺失/微重复,包含3例明确致病性CNV,5例可能致病性CNV,2例致病性未知CNV,4例可能良性CNV,9例良性CNV。结论孕中期羊水细胞行核型分析及CNV-seq技术相结合的方法是胎儿产前诊断准确且有效的方法之一。
Obejective:To explore the diagnostic value of karyotype analysis and copy number variation sequencing(CNV-seq)based on the next generation sequencing technology for prenatal diagnosis in the second trimester.Method:Chromosome karyotype analysis and CNV-seq test were performed in 215 cases of fetal amniotic fluid in the second trimester.Results:Among the 215 fetal amniotic fluid specimens,chromosome karyotype analysis revealed 4 abnormal karyotypes(1.86%),including 2 Turner syndrome,1 Chimera of Klinefelter′s syndrome,and 1 balanced translocation.Among the 211 samples with normal karyotype analysis,CNV-seq detected an additional 23 CNVs(10.69%)and 23 chromosomal microdeletions/microduplications,including 3 definite pathogenic CNV,5 probable pathogenic CNV,2 unknown pathogenic CNV,4 possible benign CNV and 9 benign CNV.Conclusion:The combination of karyotype analysis with CNV-seq technique by amniotic fluid cells during the second trimester is an accurate and effective method in prenatal diagnosis.
作者
钟德斌
莫翔
周碧燕
ZHONG De-bin;MO Xiang;ZHOU Bi-yan(Clinical Laboratory of Nanning First People's Hospital,Nanning 530022,China)
出处
《中国优生与遗传杂志》
2020年第4期417-419,共3页
Chinese Journal of Birth Health & Heredity
