A study by Indian Council of Medical Research (ICMR) that screened newborns in select hospitals in Chennai as part of a multi-site effort across the country has found an alarming incidence of congenital hypothyroidism which is a precursor to cretinism.

Data from the five-year study that followed diagnostic and treatment protocols designed by the ICMR’s National Task Force pointed to an estimated Congenital Hypothyroidism (CH) incidence of 1 in 900 newborns.

More significantly, the study established that early diagnosis and treatment in newborns with either condition was effective in preventing further complications and providing a near-normal life for the children, investigators said.

The study which also screened for Congenital Adrenal Hyperplasia (CAH) - which is the other most common congenital metabolic disorder - established a CAH incidence of 1 in 2,000.

The rate of CH-CAH incidence, coupled with the fact that both conditions are eminently treatable through newborn screening and early initiation of treatment, justify the case for broadbasing newborn screening for these two disorders as a national programme because the benefits would far outweigh the costs, they said.

“The final picture will emerge only after the pool of data from other study sites is evaluated,” said S. S. Agarwal, Chairman, ICMR National Task Force.

The ICMR-commissioned study on Newborn Screening which began in 2008 at select hospitals in Chennai, Delhi, Kolkata, Mumbai and Hyderabad - apart from a High Risk Screening Centre for metabolic disorders in Bangalore - has screened an estimated one lakh blood samples of newborns.

Hypothyroidism, related to the absence or dysfunction of the thyroid gland and CAH related to the adrenal gland malfunction were chosen as they represented the two most common genetic disorders among competing conditions such as galactosemia and cystic fibrosis, and because they were the most easily treatable.

“We are totally convinced that there should newborn screening for every child as the study established the fact that in the case of CH and CAH early initiation of treatment could provide children near normal lives,” said S. Suresh, VHS honorary secretary and principal investigator. He pointed out that during the course of the study, 43 babies with CH either due to absence of thyroid gland or a glandular malfunction could be saved from lapsing into mental retardation. All it took to save these babies was a blood sample collected through a heel-prick between 48-72 hours of birth. The screening tests roughly cost Rs. 750.

While CH is treated with inexpensive thyroxin tablets, CAH which is characterised by electrolyte imbalance, diarrhoea and vomiting requires administering of more expensive steroids. In girls, CAH can produce ambiguous genitalia and would require surgical correction later on.

“The lifelong medication component in the management of these conditions calls for a deep philanthropic engagement for the cause of these children,” said Dr. Suresh who also heads the Fetal Care Research Foundation which was the regional coordinating centre in the south for the study.