Objective To explore the application value of combined G-banding karyotype analysis and chromosomal microarray analysis(CMA)in prenatal ultrasound screening for fetal genetic detection of congenital anomalies of the kidney and urinary tract(CAKUT),and analyze the pathogenesis and genetic background of fetuses with CAKUT.Methods A retrospective analysis was performed on 519 fetal samples who underwent genetic counseling and invasive prenatal diagnosis for CAKUT in the Department of Obstetrics and Gynecology,Xijing Hospital,Air Force Medical University from January 2017 to December 2022.The collected samples were detected by combined G-banding karyotype analysis and CMA.The results of ultrasound and genetic testing were analyzed,and the pregnancy outcomes were followed up.Results Chromosome abnormalities were detected in 8 of the 519 samples,all of which were abnormal in number(3 autosomal abnormalities and 5 sex chromosome abnormalities).Likely pathogenic copy number variations(CNVs)were detected in 11 cases,and pathogenic CNVs were detected in 8 cases,with a total positive detection rate of 5.2％.In CNVs,17q12 microdeletion syndrome was the most common(4 cases).Conclusion CAKUT is a common structural malformation in prenatal ultrasound.The combined application of G-banding karyotype analysis and CMA can improve the detection rate of chromosome abnormalities,and provide accurate basis for genetic counseling,pregnancy outcome and reproduction.
关键词
先天性泌尿系统发育异常/产前诊断/G显带核型分析/染色体微阵列分析/17q12微缺失综合征
Key words
congenital anomalies of the kidney and urinary tract/prenatal diagnosis/G-banding karyotype analysis/chromosomal microarray analysis/17q12 microdeletion syndrome
维普
万方数据