胎儿末端染色体非平衡易位遗传方式的CNV-seq联合G显带核型分析

Genetic mode analysis of fetuses with terminal non-balanced chromosomal translocation using CNV-seq combined with G-banding karyotyping

目的:通过拷贝数变异检测(CNV-seq)联合G显带核型分析对产前诊断和流产的胎儿末端染色体非平衡易位发生频率以及遗传方式进行分析。方法:选取2018年6月至2021年12月在郑州大学第一附属医院经CNV-Seq判定为末端染色体非平衡易位的病例,采用外周血G显带核型分析或FISH检测对胎儿父母进行溯源分析。结果:17248例产前诊断和流产病例中,88例检出末端染色体非平衡易位,检出率为0.51%。其中59例行父母G显带核型分析或FISH检测,32例(54.24%)是由于父母为平衡易位导致,27例(45.76%)为新发变异。结论:诊断为末端染色体非平衡易位的病例,父母行G显带核型分析或FISH检测可提高染色体平衡易位携带者的检出率。

Aim:To analyze the incidence and genetic mode of terminal non-balanced chromosomal translocation in prenatal and miscarriage fetuses through Copy Number Variation sequencing(CNV-Seq)and G-banding karyotyping.Methods:CNV-Seq was used to analyze fetuses with terminal non-balanced chromosomal translocation in the First Affiliated Hospital of Zhengzhou University from June 2018 to December 2021.Parental origin analysis was conducted using parental peripheral blood G-banding karyotyping or FISH detection.Results:Among 17248 prenatal and abortive cases,88 cases(0.51%)were terminal non-balanced chromosomal translocation,among whom,59 cases chose parental G-banding karyotype analysis or FISH detection,54.24%cases(32/59)parents were balanced translocation karyotype,and 45.76%cases(27/59)parents were normal karyotype,and fetuses were de novo mutation.Conclusion:Fetuses with terminal non-balanced chromosomal translocation should undergo G-banding karyotyping or FISH testing for the parents to improve the detection of balanced translocation.