Abstract:Objective To investigate the correlation of karyotype and pathogenic copy number variations (CNVs) with fetal ultrasound abnormalities. Methods Participants were pregnant women who visited to Prenatal Diagnosis Center of the Second Affiliated Hospital of Harbin Medical University from July 2017 to June 2019 and volunteered to have amniocentesis test. 350 cases of pregnant women with fetal abnormality indicated by ultrasound were included in our study and the detection rate of abnormal karyotypes and pathogenic CNVs corresponding with different ultrasound indicators were compared. Participants included in the study were between 18 and 45 years old with gestational age between 17 and 27 weeks. Results Among the 350 cases with ultrasound abnormality, 243 cases (69.4%) had abnormal ultrasound soft markers, of which 49 were chromosomal karyotype abnormality (20.2%), 54 had pathogenic CNVs (22.2%); 107 cases of the 350 cases were ultrasound structural abnormality (30.6%), 29 of which were chromosomal karyotype abnormality (27.1%), 33 of which had pathogenic CNVs (30.8%); Among the 350 cases, 17 cases had normal karyotype, while CNVs showed pathogenic variation, accounting for 4.9%. Conclusion In prenatal diagnosis of fetal ultrasound abnormalities, the combination of chromosomal karyotype analysis and high-throughput sequencing CNVs detection can improve the detection rate and reduce the risk for birth defect.
公丕东, 白洁明, 邸郅欣, 刘羽, 王超, 张玉红, 卢秀敏, 隋美萍, 王宇欣, 刘梅梅. 350例超声异常胎儿的染色体及全基因组拷贝数变异分析[J]. 中国生育健康杂志, 2022, 33(2): 145-150.
GONG Pidong, BAI Jieming, DI Zhixin, LIU Yu, WANG Chao, ZHANG Yuhong, LU Xiumin, SUI Meiping, WANG Yuxin, LIU Meimei. Analysis of the chromosomal and whole genome copy number variations in 350 fetuses with ultrasound abnormality. Chinese Journal of Reproductive Health, 2022, 33(2): 145-150.
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