Model Evaluation and Discussion in Rehabilitation and Prevention for Hereditary Deaf Family

HAN Mingyu; LU Yanping; BIAN Xuming; WANG Longxia; HUANG Shasha; WANG Guojian; KANG Dongyang; ZHANG Xin; DAI Pu

doi:10.3969/j.issn.1672-2922.2014.01.003

Abstract：Objective To discuss the ideal model of rehabilitation and prevention for hereditary deaf family. Methods 58 families joined in the study during the years from 2006 to 2013. Of these families, all parents with normal hearing had one deaf child with cochlear implantation and were eager to have a healthy baby. Genomic and mitochondrial DNA of each pro-band and their parents were extracted from whole blood. The etiology and recurrent risk in 53 families were confirmed by means of the genetic testing of GJB2, SLC26A4 and mtDNA 12sRNA after medical history, physical examination, auditory test-ing and CT scan of temporal bone were completed. The prenatal testing was carried out during the pregnancy of all mothers from 11 to 26 weeks, and the following genetic information and counseling were supplied based on the result. Results The re-current risk was 25%in these 58 families, including 35 families were of parents with heterozygous GJB2 mutation and pro-bands with homozygous or compound GJB2 mutations and 23 families were of parents with heterozygous SLC26A4 mutation and probands with homozygous or compound SLC26A4 mutations. 64 times of prenatal testing were applied in all 58 families that 6 families of them received prenatal testing twice because of pregnancy twice. 20 times of prenatal testing showed that the fetuses carried parental mutations simultaneously or the same mutations with probands;while 44 times of prenatal testing showed that the fetuses carried only one parental mutation or did not carry any mutation from parents, and the following visit showed that these families had given birth to babies who were all revealed to have normal hearing by new born hearing screening. Conclu-sion As for the deaf families that the etiology is confirmed, the ideal model of rehabilitation and prevention is that the proband takes cochlear implantation and parents use prenatal diagnosis assisted by genetic testing to have a healthy baby.