EXPECTED ADVANTAGE OF COMBINED AUDIOLOGICAL AND GENETIC SCREENING OF NEWBORNS

Tavartkiladze GA (1), Polyakov AV (2) ,  Markova TG (1).

(1) National Research Centre for Audiology and Hearing Rehabilitation, Moscow, Russia, (2) Moscow Medical Genetic Research Centre, Moscow, Russia.

The only effective method of revealing hearing loss in newborns and infants is audiological screening which has been performed in Russia since 1996. Despite obvious achievements, there are also certain problems. Deaf children with unknown reason of hearing impairment fall out the risk group and miss existing audiological screening system. Moreover, the screening can not reveal children with mild to moderate hearing impairment.

According to our previous data children with unknown etiology make up to 50% of congenital deafness cases and half of these cases are connected to 35delG mutation in GJB2 gene. Тhe age of primary detection and clinical diagnoses of a hearing disorder in 87% of 35delG mutation homozygotes comprised the period of first two years of life. It is also known, that in rare instances homozygote children have mild to moderate hearing impairment. Considering these data, we can assume that genetic screening will raise the efficiency of early revealing of children with 35delG mutation in GJB2 gene. Such children should be sent to audiological centre for precise diagnostics and early intervention.

Email: gtavartkiladze@audiology.ru