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.