Thursday, November 13, 2014

Clinical pearls learnt in the tricity Chandigarh's Pediatric meeting - newborn Inborn error of metabolism screening in India

While many accuse doctors of spending most of their time wining & dining in meetings, there is always opportunity to pick up some very useful tidbits that can impact our day to day OPD practice as well.
In our recent meeting of the pediatricians of Chandigarh, Panchkula & Mohali this is what I learnt regarding screening our newly born babies in India for certain serious & life threatening diseases.
The talk was by an eminent neonatologist from a leading corporate hospital, and was simple and quite useful.
While in the west, neonatal screening is taken as a given, and routinely done, in India this is an emerging concept, and many big hospitals, and most small hospitals and clinics do not do this routinely. 
Here is what I remember .... 
There is a lot of data that has emerged from India in the last 10 years regarding the utility of newborn screening, including from Goa - the first state to start newborn screening, and even our own city of Chandigarh where GMCH 32 is doing a pilot project for the last many years now.
Every child should be screened for the commonest three disorders ...

1. Congenital Hypothyroidism
2. Congenital Adrenal Hyperplasia
3. G6PD deficiency (especially common in North India)

As the incidence of these diseases in India is very common and approaches 1:1000 in most studies, & these conditions can be treated if detected on time, it makes a lot of sense to screen for these 3 conditions in India

Ideal time for heel prick screen - 2 days to 7 days age
If screening done before 2 days - repeat around 2 weeks age.
Cost of screening - in most private labs between 900 to 1700 rupees.
For affording parents, a much more detailed TMS screen can be done that costs upwards of 4,000 rupees and screens for 40 diseases, most of them rare and not easily treatable.
Turn around time - 4-7 days.
Screening to be done by simple drops of blood to be taken on filter paper, and then dried and put in an envelope and sent to the lab, mentioning details of anything special including the day of life of the baby when the screening sample was taken.
I have done the TMS (40 disease) screen for my daughter when she was born, and got back normal results

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