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OACSTPCD
Study of genetic etiology on 21 cases of idiopathic non-immune hydrops fetalis using ex-ome sequencing
目的:探讨外显子组测序技术在不明原因非免疫性胎儿水肿病例中的病因诊断价值.方法:回顾分析 2019 年 1 月至 2022 年 12 月于香港大学深圳医院诊治的 21例不明原因非免疫性胎儿水肿病例的外显子测序结果.结果:对不明原因的非免疫性胎儿水肿病例,行外显子组测序额外获得了47.6%(10/21)的病因诊断率.外显子组测序阳性者的首诊孕周为(16.5±5.6)周,较检测阴性者更早,两组比较差异有统计学意义(P<0.05).10 例胎儿水肿病例找到8 个基因的致病变异或可疑致病变异,分别为PIEZO1、EPHB4、PTPN11、PQBP1、FOXP3、MAGEL2、CHRND、GUSB 基因.66.7%(6/9)外显子组测序阴性的非免疫性胎儿水肿新生儿预后良好.结论:对不明原因的非免疫性胎儿水肿病例结合胎儿表型进行外显子组测序可获得较高的病因诊断率,尤其是当胎儿水肿首诊孕周出现较早时.外显子组测序结果阴性的非免疫性胎儿水肿新生儿预后较好.
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.
陈莼莼;曾婷;唐海燕;罗力冰;李艳颜;林胜谋
广州医科大学,广州 510182||香港大学深圳医院产前诊断中心,深圳 518053香港大学深圳医院产前诊断中心,深圳 518053
临床医学
非免疫性胎儿水肿外显子组测序遗传学病因产前超声
Non-immune hydrops fetalisExome sequencingGenetic etiologyPrena-tal ultrasound
《现代妇产科进展》 2024 (007)
501-505,511 / 6
深圳科技创新委员会基础研究项目(No:JCYJ20210324114610028)
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