Experts urge for screening of newborns to spot disorders

Only three per cent of the newborns are screened for congenital diseases, deficiencies and fibrosis. This severe shortfall in tests leads to a lot of missed cases, which develop into severe full-blown diseases of congenital or rare disorders.

Newborns’ screening is a challenge as parents are mostly unwilling and many families are not ready to accept that their newborn child might have one or another defect. Awareness is evident only in families that have a history of such disorders.

Experts say these missed cases are mostly of seven common disorders – mainly of congenital hypothyroidism, congenital adrenal hyperplasia and the set of 55 different metabolic disorders.

Dr S.M. Naushad, head of biochemical genetics and enzymology at Sandor Speciality Diagnostics, explains: “If detected at an early stage, the 55 different metabolic disorders would help reduce damage due to genetic defects. There are dietary and therapeutic interventions, which are available, and would help rectify defects at an early stage itself.”

The prevalence of genetic disorders is of the order of six to eight per cent of the population. In India alone, there are 72 million people affected by such disorders.

In a sample study of 10,000 newborns, it was found that two per cent of them had the most common disorders which could be easily rectified if detected at early stages. The Institute of Genetics under the Government of Telangana carries out screening on pregnant women. These are cases referred mostly from government maternity centres. Often, these women do not return after childbirth and it requires a lot of follow up to get them and the child in the fold.

A government doctor said: “Metabolic and genetic disorders are difficult for the society to accept. Often, the pregnant woman is at the receiving end. It requires of us to help them erase perceptions of a stigma and deal with this matter at the family level.”

“This can often be rectified but parents come too late and treatments then tame more time.”

The most common reason is consanguineous marriages. Five years ago, the genetic testing was only of 500 per year, but this has increased to more than a lakh now. This is also because the cost of genetic testing has come down with advances in next generation sequencing.

With medical advances and low costs, the trend must gather pace. Experts urge that early intervention can help many rectify the genetic and metabolic defects which, after three to five years of age, take a lot more of time, medicines and effort to set right.

The culling of wild boar in the state is throwing up questions on some of the licensed hunters posing for photographs with the wild boar they have shot and their publication.

Soon after the state forest department issued orders declaring all sarpanchs in the state as honorary wildlife wardens and gave them powers to engage shooters to kill wild boar destroying crops in their village limits, differences cropped up among the 30member group of shooters who were empanelled by the department for the purpose of culling the wild pigs. While some sought payment of costs of culling operations and urged the government to make arrangements for the same, another group gave a letter to the department saying they will foot their own bills and want to take part in the culling operations to help affected farmers.

The matter of posing for photographs with culled wild boar is the latest controversy to hit the culling operations in the state. Officials said that such acts were unethical and insult the dignity of the animal, even if it was culled, under the provisions of the Prevention of Cruelty to Animals Act.

These are not trophies to be displayed, a forest department official said. “In the past when hunting for sport was allowed before all wild animals in the country were given protection under the Wildlife Protection Act, posing for photographs with hunted wild animals was seen as OK. But now, every wild animal, dead or alive, is the property of the state and such acts should not be indulged in by anyone,” the official said.