Preimplantation Genetic Diagnosis: Its Role in Prevention of Deafness

• Published in: Indian journal of otolaryngology, and head, and neck surgery Vol. 66; no. 1; pp. 1 - 3
• Main Author: Taneja, M. K.
• Format: Journal Article
• Language: English
• Published: India Springer India 2014; Springer Nature B.V
• Subjects: Deafness; Disease prevention; Editorial; Genetic disorders; Head and Neck Surgery; Medical diagnosis; Medicine; Medicine & Public Health; Otorhinolaryngology; Preimplantation; Sensorineural deafness; National deafness programme; Genetic diagnosis
• DOI: 10.1007/s12070-014-0711-9
• ISSN: 2231-3796

Deafness is a global problem. In India deafness ranges from 4 % in urban to 11 % in rural and slum areas, out of which 50 % is conductive hearing loss hence curable. Genetic transmission accounts for 50 % of the cases of congenital deafness, and of these, around 30 % are syndromic and 70 % are non-syndromic. Genetic counseling is going to make aware the parents of all appropriate treatments. Preimplantation genetic diagnosis can help to have a baby free from genetic deafness. Procedure is almost safe, harmless, non-invasive and ethically acceptable. While Amniocentesis is a non-invasive method, prenatal genetic testing through Chorionic villous sampling is invasive. The connexin 26 (CX26W 24X) mutations are the most common cause of non-syndromic hearing loss 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.