Prenatal diagnosis and genetic counseling in families with non-syndromic hearing loss
YAN Feng
SONG Tingting
GUO Fenfen
REN Juxia
BAI Jie
YANG Hong
Abstract：Objective To evaluate the accuracy and effectiveness of protocol for prenatal diagnosis and genetic counseling for families at high risk of hearing loss.Methods A total of 80 cases with non-syndromic hearing loss(NSHL)were screened by PCR reverse hybridization.A total of 21 cases were detected with deafness gene mutations,including 16 mutation sites of 4 hot genes GJB2,GJB3,SLC26A4 and 12SrRNA.Twenty-one cases with deafness gene mutation families,1 case with deafness gene screening negative family and 1 case with a family history of deafness all had fertility needs and required prenatal diagnosis.According to the mutation sites,family genetic history,medication history of deafness progenitor in each family,Sanger sequencing primers were designed to detect 91 family members in 23 families and provide genetic counseling and eugenic guidance.Fetal hearing was followed up by telephone after birth to assess the accuracy and effectiveness of prenatal diagnosis and genetic counseling protocol.Results Among 80 children with deafness,21 were found to carry the deafness gene mutations.Prenatal diagnosis of 23 fetuses found:7 cases were wild type,6 cases were single heterozygous mutations,2 cases were double gene heterozygous mutations,2 cases were GJB2 double heterozygous mutations(235delC/79G＞A and 235delC/341 A＞G),5 cases were single gene double heterozygous mutations and 1 case was double gene double heterozygous mutation(GJB2/SLC26A4:35delG/176del16/439).After genetic counseling,5 cases of single gene double heterozygous mutations and 1 case of double gene double heterozygous mutation(GJB2/SLC26A4:35delG/176de116/439)were diagnosed with deafness,all of which were induced.Another 17 fetuses were considered to be able to continue pregnancy,including 7 cases of wild-type fetuses,6 cases of single heterozygous mutations,2 cases of double gene heterozygous mutations,and 2 cases of GJB2 double heterozygous mutations,and they were followed up for 5 years after birth and their hearing remained normal.Conclusion The prenatal diagnosis and genetic counseling protocol can provide detailed guidance information for families at high risk of hearing loss,and can effectively reduce the birth of children at high risk of hearing loss,which has good application value.
Keywords：deafness geneprenatal diagnosisgenetic counselingprogram evaluation
Publication Date：2024-11-28
Online Publishing Date：2026-08-26(First online date of this platform, not the publication date of the document)
Pages：7( 1272-1277,1283 )