现代妇产科进展2024，Vol.33Issue(7)：501-505,511,6.DOI:10.13283/j.cnki.xdfckjz.2024.07.004
基于外显子组测序对21例不明原因非免疫性胎儿水肿遗传学病因探索
Study of genetic etiology on 21 cases of idiopathic non-immune hydrops fetalis using ex-ome sequencing
摘要
Abstract
Objective:To investigate the diagnostic value of exome sequencing(ES)in idiopathic non-immune hydrops fetalis(NIHF).Methods:The clinical data of 21 cases of idio-pathic non-immune hydrops fetalis from January 2019 to December 2022 at the University of Hong Kong-Shenzhen Hospital was retrospectively analyzed.Results:For idiopathic non-im-mune hydrops fetalis,the additional diagnostic yield of ES was 47.6%(10/21).Ten fetuses carried pathogenic/likely pathogenic genetic variants located in eight genes(PIEZO1,EPHB4,PTPN11,PQBP1,FOXP3,MAGEL2,CHRND and GUSB).66.7%(6/9)neonates with ES negative findings had good outcome.Conclusion:ES combined with fetal phenotype study in id-iopathic non-immune hydrops fetalis can achieve a high diagnostic yield,especially when the in-itial diagnosis of hydrops fetalis is in early gestation.Neonates of idiopathic NIHF of negative ES have better prognosis.关键词
非免疫性胎儿水肿/外显子组测序/遗传学病因/产前超声Key words
Non-immune hydrops fetalis/Exome sequencing/Genetic etiology/Prena-tal ultrasound分类
医药卫生引用本文复制引用
陈莼莼,曾婷,唐海燕,罗力冰,李艳颜,林胜谋..基于外显子组测序对21例不明原因非免疫性胎儿水肿遗传学病因探索[J].现代妇产科进展,2024,33(7):501-505,511,6.基金项目
深圳科技创新委员会基础研究项目(No:JCYJ20210324114610028) （No:JCYJ20210324114610028）
