HYDERABAD: In India, 30,000 neonates are born everyday and one out of thousand has congenital hypothyroidism. Apart from this, there are 50 disorders which can be detected by conducting New Born Screening (NBS) which helps early detection of metabolic and other disorders.
Pediatricians, consultant obstetrics and people connected with use of NBS have demanded that screening of newborns for identifying congenital diseases should be made mandatory.
Possibility of mental retardation could also be detected through screening for enzymes, said the specialists.
At a symposium on Newborn Screening organised by Trivitron Healthcare here on Sunday, specialists spoke about the disorders that can be detected with NBS.
They said that chances for a newborn to acquire metabolic disorders increases when people marry within close families and also castes.
A consultant at Rainbow Hospitals, Dr Radha Ramadevi, said close to 100 per cent of children who are affected with the disorders were from consanguinity marriages.
“In the month of August, 20-year-old S Kavya who was suffering from Wilson Disease, underwent liver transplantation at Osmania General Hospital. Doctors there said she acquired the disease as her parents’ had a consanguinity marriage,” Ramadevi said.
She added that when people marry within the caste, though they are not related by blood, their children are more vulnerable to develop recessive disorders.
Explaining what goes wrong when people in close family or caste marry, Ramadevi said that for every enzyme two genes function. “Even if one gene functions, they can lead a normal life. But if two genes are defective, they will get a disease as enzyme becomes ineffective and cannot digest proteins,” she noted.
She added that the closer the relation between spouses, the higher number of genes will be common between them. “If one gene is responsible for a disease and both of them carry it as they are from the same family, then the chances for it to be passed on to their child increase by 25 per cent. This is the reason why higher number of metabolic disorders are detected in consanguinity marriages,” the doctor said.
‘Newborn screening should be mandatory’
A father, Vikas Bhatia, who lost three children to Inborn Errors of Metabolism, urged that governments should make the screening procedure mandatory. On the sidelines of the symposium, he said that through NBS thousands of newborns can be saved.
Meanwhile, specialists said that usually parents do not ask for NBS to be conducted on their newborns.