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Newborn Screening is still in the neonatal stage of its development. “Neonatal screening is emerging preventive public health programme-. It is a programme in which the neonates are screened for the diseases which might have their
presentation clinically later in the life. The common diseases which are generally screened include congenital hypothyroidism (TSH levels), congenital adrenal hyperplasia (17-OHP levels), Glucose 6 phosphate dehydrogenase deficiency, galactosemia, cystic fibrosis etc. Currently in our country there is no government funded programme for the same. Is screening of the masses helpful for a country like ours where a lot of the children are undernourished and below poverty line?
A survey conducted recently in Bangalore which included doctors( obstetricians, paediatricians and neonatologists), nurses and general public showed that approximately two-thirds of the doctors, 95% of the nurses and as high as 99% of the general public were unaware of the neonatal screening. It was even found that though the awareness among the public was low, they were not ever eager to know about it, maybe because there doctors didn’t tell them about these at the time of discharge. Hence, there is a need to create awareness both among the medical professionals and the public.
Recently Indian council of medical research (ICMR) conducted a project at 4 centres of the country to see if the programme is feasible to be implemented in our country. On the other hand a lot of private centres in metro cities are offering the screening tests at around 5,000-6,000 rupees. This gives the rich and affording people an upper hand over those who can’t afford.
The people need to be taught about the implications of these metabolic diseases, the need of retesting, confirmatory testing and the treatment available. We don’t have the treatment available presently for all these diseases and hence a battery of tests to diagnose those with no treatment available will add worry and tension to the minds of parents and caretakers only.
These screening programmes cannot include universal tests for the diseases. In a huge country like ours the diseases vary according to the regions and cultural practices very much. Glucose 6 phosphate dehydrogenase deficiency is common among Punjabis of north India whereas congenital adrenal hyperplasia is seen mainly in the southern part of our country. Consanguinity also is a factor in some of these diseases and hence those diseases need to be screened in those communities.
It is also important to see which method has been used for screening and the timing at which screening has been done as the results vary with these parameters too. There should be standard protocols for the further confirmation and management of the disease if they turn out to be positive in the screening tests.
The samples (blood from heelprick) are generally collected for screening on a filter paper and analysed by TMS (Tandem Mass Spectrophotometry). These filter papers should not be touched by anyone as even the sweat can alter the results. If the screening tests come out to be positive then they need to be confirmed without delay as the treatment needs to be started.
Follow up of the babies who have been diagnosed with these diseases holds very important place in our country where the majority of the population is lost to follow up. Doctors who are specially trained in genetics need to council the parents about the disease, its treatment, its long-term sequale and the importance of follow up.
So, a public-private partnership is the need of the hour to this issue as none is in a position presently to handle the situation alone.
Dr. Murtaza Kamal is a practicing pediatrician at Safdarjung Hospital, New delhi. Dr. Kamal is associated with a number of medical research journals including Elixir International Journal, USA, International Journal of Medical Pediatric and Oncology, Indian Journal of Case Reports & Yuva Journal of Medical Sciences.