Prenatal genetic test and clinical guidance for 213 hereditary deaf families
10.3760/cma.j.issn.1673-0860.2012.02.009
- VernacularTitle:213个遗传性耳聋家庭的产前诊断和生育指导
- Author:
Ming-Yu HAN
1
;
Yan-Ping LU
;
Xu-Ming BIAN
;
Long-Xia WANG
;
Sha-Sha HUANG
;
Guo-Jian WANG
;
Yi WANG
;
Dong-Yang KANG
;
Xin ZHANG
;
Pu DAI
Author Information
1. 解放军总医院耳鼻咽喉头颈外科医院
- Keywords:
Hearing impaired persons;
Connexins;
Membrane transport proteins;
Prenatal diagnosis;
Genetic counseling
- From:
Chinese Journal of Otorhinolaryngology Head and Neck Surgery
2012;47(2):127-131
- CountryChina
- Language:Chinese
-
Abstract:
Objective To summarize the workflow,strategy and experience of prenatal genetic test for deafness based on the 6-year clinical practice.Methods There were 213 famihes who received prenatal test from 2005 to 2011.Among the 213 families,205 families had had one deaf child,including 204 couples with normal hearing and one couple of the deaf husband and normal wife,8 families including 6 couples with normal hearing and 2 deaf couples,had no child before test. Genomic and mitochondrial DNA of each subject was extracted from whole blood.The etiology and recurrent risks in 212 families were confirmed by means of the genetic test of GJB2,SLC26A4 and mtDNA 12sRNA,but one family carried POU3F4 c.647G ＞ A heterozygous mutation causing X-linked hereditary hearing impairment confirmed by pedigree study.The prenatal test was carried out during the pregnancy of all mothers from 11 to 30 weeks,and the following genetic information and counseling were supplied based on the results.Results The recurrent risk was 25％in 209 families,including 204 families with one deaf child and 5 families without child,among which all couples were GJB2 or SLC26A4 mutation carriers and deaf children were caused by homozygous or compound GJB2/SLC26A4 mutations; The recurrent risk was 50％ in 3 families,the father and his child in one family had compound SLC26A4 mutations and the mother with heterozygous SLC26A4 mutation,the wife had POU3F4 c.647G ＞ A heterozygous mutation in another one family,and the husband with compound SLC26A4 mutations and the wife with mtDNA A1555G mutation and heterozygous SLC26A4 mutation simultaneously happened in the rest one family; The recurrent risk was 100％ in one family of the deaf couple who were both found to carry homozygous or compound GJB2 mutations,and the deaf wife got pregnant by artificial insemination with the sperm from the local Human Sperm Bank.226 times of prenatal test were applied in all 213 families that 11 families of them received prenatal test twice,and one family received three times. 46 times of prenatal testing showed that the fetuses carried parental mutations simultaneously or the same mutations with probands ; while 180 times of prenatal test showed that the fetuses carried only one parental mutation or did not carry any mutation from parents.The following visit showed that all of these 180 families had given birth to babies who were all revealed to have normal hearing by new born hearing screening test.Conclusions Prenatal diagnosis for deafness assisted by genetic test can provide efficient information about offspring's hearing condition,and the normative workflow and precise strategy highy guarantee the safe and favorable implementation of prental diagnosis.
