摘要
本文报道了1例无创产前诊断EDA基因突变致胎儿外胚层发育不良的病例。该孕妇曾生育过外胚层发育不良患儿,此次停经11周来郑州大学第一附属医院遗传与产前诊断中心就诊。采用游离DNA单分子标签检测(cell free DNA barcode-enabled single-molecule test,cfBEST)技术对孕妇及胎儿行无创产前检测,并进行绒毛活检取材术验证。结果显示,孕妇EDA基因c.340C>T(p.Gln114*)为杂合型,胎儿基因型为正常野生型C/C,与绒毛活检取材产前诊断结果一致。提示cfBEST技术可用于外胚层发育不良EDA基因点突变的无创产前诊断。
We report a case of non-invasive prenatal diagnosis of fetal ectodermal dysplasia caused by EDA gene mutations.The pregnant woman underwent prenatal diagnosis at 11 gestational weeks because of a childbearing history of ectodermal dysplasia.Cell-free DNA barcode-enabled single-molecule test(cfBEST)was used to detect the ectodermal dysplasia gene mutation,and chorionic villus sampling was also performed.The cfBEST results showed that the genotype of maternal EDA gene c.340C>T(p.Gln114*)was heterozygous,while the genotype of fetal EDA was normal wild-type(C/C),which were consistent with the results of villus sampling,suggesting that cfBEST can be used for non-invasive prenatal diagnosis of ectodermal dysplasia caused by EDA gene mutation.
作者
代鹏
赵干业
王晓锋
王聪慧
郜珊珊
夏俊珂
孔祥东
Dai Peng;Zhao Ganye;Wang Xiaofeng;Wang Conghui;Gao Shanshan;Xia Junke;Kong Xiangdong(Genetic and Prenatal Diagnosis Center,the First Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,China;Hunan Research Center for Big Data Application in Genomics Genetalks Inc,Changsha 410152,China)
出处
《中华围产医学杂志》
CAS
CSCD
北大核心
2020年第7期456-459,共4页
Chinese Journal of Perinatal Medicine
基金
国家重点研发计划(2018YFC1002203)
河南省医学科技攻关联合共建项目(2018020036)。
