Symposium on Newborn Screening

Trivitron Healthcare,one of India's largest medical technology companies of Indian originin association with NeoGen Labs, a leader in Newborn Screening, and Rainbow Hospital, Hyderabadhosted a Symposium on the occasion of Newborn Screening Month to highlight the relevance of the topic.

Newborn Screening is a pediatric screening service provided to newbornbabies to assess the possibility of genetic disorders caused by “Inborn Errors of Metabolism (IEMs)”. A drop or two of blood collected by a simple heel prick can screen a newborn baby for over 50 IEMs which cause development delay or death if undetected and untreated.

Newborn Screening is an established public health program in most Western countries but it is still growing in India, largely driven by the private sector. Today, most leading private hospitals and some government hospitals have a Newborn Screening Program in place but awareness and implementation by all hospitals and government is still a challenge.

IEMs can lead to permanent neurological, cognitive, tactile, and physical damage in the child but if detected early enough, they can all be treated leading to completely normal development. One of the factors contributing to their high prevalence in Indiais consanguineous marriages and marriage within communities over generations.

Studies indicate that up to 15% of newborn sick babies could have treatable metabolic disorders which go unknown leading to mental retardation and death. Speaking on the occasion Dr Saurabh Dani, an Obstetrician and Gynecologist from Ankur Hospital, Mumbai said “Newborn Screening has been proved to be a very effective public health program in several countries and just second to the popular immunisation program.

India has yet to realise its full potential benefits.” Vikas Bhatia, a parent who has lost three children to IEM says “Babies with disorders like IEMs are treated like gone cases and nothing is done about it. The fact is that 20 out of 100 could have been saved with Newborn Screening and modified diets, and for those 80 cases that are beyond any treatment, parents can at least be informed of the diagnosis so they can think on the lines of prenatal diagnosis for future pregnancies”.

Problems associated with Newborn Screening are:

• Parental lack of awareness about its benefits. Unlike Western countries, it is not a mandated test so parents in India have to request the test,
• Counselling by gynecologists and pediatricians is required to educate the parents before delivery and this practice is not widespread except in leading birthing hospitals across the country
• Reliable testing laboratories and accurate results.

The Newborn Screening symposium was started by NeoGen Labs four years ago and is held every two years. The current event with their technology partner, Trivitronisthe third in the series with the theme “We are on our way”. The theme celebrates the fact that many hospitals now screen for at least, Congenital Hypothyroidism. Quite a few screen for 3 or more disorders.

Some screen for the comprehensive panel of more than 50 disorders. State Governments in India have started, or are in the process of starting Newborn Screening programs. The challenge faced is in what to do for treatment after screening finds a disorder and it is confirmed. The coalition of Newborn Screening proponents are making headway in finding a solution and believe that access to life saving diets will also be available soon.

Expertise in treatments is also being fast developed with development of local diets. Dr Rohit Cariappa from NeoGen Labs says “Newborn screening for treatable metabolic disorders is coming of age in the private healthcare sector in India. The formation of parent advocacy groups and relaxation of import restrictions on special formula diets is likely to spur better treatment options and outcomes for affected newborns”.

This symposium is an effort to inform, educate and share experiences to understand the benefits ofscreening. It is a small step in a long journey to realize universal screening in India.