染色体微阵列分析和低深度高通量全基因组测序技术在流产遗传学诊断中的应用

目的 探讨染色体微阵列分析(CMA)和低深度全基因组测序(CNV-seq)技术在流产遗传学病因诊断中的应用价值.方法 收集2018年5月至2019年10月在无锡妇幼保健院计划生育门诊就诊并确诊稽留流产患者的流产样本89例,对所有流产样本分别进行CMA和CNV-seq检测,比较两种方法整体检出率以及各种染色体异常情况的检...

Application of chromosomal microarray analysis and copy number variation sequencing in genetic diagnosis of miscarriage

Objective:To assess the value of chromosomal microarray analysis(CMA)and low depth whole genome sequencing(CNV-seq)in the genetic etiological diagnosis of miscarriage.Methods:A total of 89 abortion samples of patients with spontaneous miscarriage were collected from May 2018 to October 2019 in the Family Planning Clinic of Wuxi Maternal and Child Health Hospital.CMA and CNV-seq tests were performed on all abortion samples.The overall detection rate and the detection results of various chromosomal abnormalities of the two methods were compared.Results:Eight nine samples(100%)were successfully detected by two techniques.The results of the two methods are consistent for the detection of chromosome aneuploidy,of which 28 cases of autosomal trisomy and 5 cases of Turner’s syndrome were detected by two techniques.Eight cases of triploids and 3 cases of loss of heterozygosity were detected by CMA,while CNV-seq only suggested male triploid,but could not detect loss of heterozygosity.CMA and CNV-seq detected some chromosome deletion,duplication and chimerism in the detection range.Conclusions:CMA has more advantages in detection of triploid and loss of heterozygosity,while the detection of chromosomal aneuploidy and copy number abnormality is similar to that of CNV-seq.CNV-seq has advantages in detection of high throughput,expansibility and economy.Both techniques can be used for genetic analysis of miscarriage,providing more options for clinicians.