Non-invasive prenatal diagnosis of ectodermal dysplasia caused by EDA gene mutation: a case report
10.3760/cma.j.cn113903-20191031-00618
- VernacularTitle:无创产前诊断 EDA基因突变致外胚层发育不良一例
- Author:
Peng DAI
1
;
Ganye ZHAO
;
Xiaofeng WANG
;
Conghui WANG
;
Shanshan GAO
;
Junke XIA
;
Xiangdong KONG
Author Information
1. 郑州大学第一附属医院遗传与产前诊断中心 450052
- From:
Chinese Journal of Perinatal Medicine
2020;23(7):456-459
- CountryChina
- Language:Chinese
-
Abstract:
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.
