Prenatal diagnosis of prelingual deafness by determination of SLC26A4 gene mutation / 中华妇产科杂志

ABSTRACT

G mutation of SLC26A4, the parents and the second child were carriers of the same mutation, while the fetus had a wild-type form. Conclusion It is feasible to identify deafness related genes by screening for GJB2 and SLC26A4 mutation, thus providing correct prenatal diagnosis and avoiding deaf delivery of baby.