Preimplantation Genetic Diagnosis and Deafness

Abstract

Deafness in India ranges from 4. 0 % in urban and 4. 0-11 % in rural and slum areas, out of which 50 % are of conductive hearing loss hence curable. In the congenital hearing loss the incidence of syndromic hearing loss is only 30 %, rest 70 % are non syndromic. Genetic counseling is going to make aware the parents. Preimplantation genetic diagnosis can help to have a baby free from genetic deafness. Procedure is almost safe, harmless, non-invasive and ethically acceptable. While by genetic testing through prenatal genetic testing, amniocentesis and chorionic villous sampling is invasive and termination of pregnancy is difficult, social and ethical issue. The connexin 26 (CX26W 24X) has been observed as most common and easy to identify by polymerase chain reaction. There is always co morbidity after cochlear implantation and the person remains handicapped while baby after PGD shall be having healthy normal life and person prone to environmental factors may be counseled and guided to prevent deafness in next generation. Public must be made aware of noise pollution, tobacco toxicity and consanguinity. The obstetrician and pediatrician apart from ENT surgeon should be involved to prevent antenatal or neonatal deafness. © 2012 Association of Otolaryngologists of India.