Know-hows of Newborn Screening

Newborn screening is a set of tests done on day two or three of life for a newborn child. Dr Meenakshi Bhat, a leading genetic counsellor of the nation, lucidly explains to us about the birthright of a newborn to be screened for a preset list of disorders. These disorders if detected early can be treated or managed very effectively that allows the child to grow up normally. Otherwise, these children grow up to have severely damaged physical and mental development.

Following up on this, the next one features Mr Vikas Bhatia, a parent who extensively self-taught himself about rare genetic disorders, talks to us about how in real-time different segments of a newborn screening test is done.

One of the larger steps of newborn screening is the retrieval of blood in the form of a dried blood spot to screen a set of 55 to 60 disorders. This dried blood spot is ideally sent to a central lab facility where the blood is tested for different analytes for a fixed set of disorders. Listen to Dr Rohit Cariappa, the Laboratory Head of NeoGen Labs Pvt. Ltd. in the following video explaining the processing of a dried blood spot in their lab which exclusively is a newborn screening lab.

Now that we understand what happens to a dried blood spot being sent to a lab to screen for disorders in a newborn, how does one know which are the disorders to be included to be tested for? Will it be included because a disorder is commonly occurring? Is it because a disorder can be tested for easily? Is it because treatment is easily available? Who decides the set of disorders to be tested? Is it common across the nation or world? Mr Thomas Mookken, the CEO of NeoGen Labs Pvt. Ltd. who is also the Co-Founder along with Dr Rohit Cariappa explains to us the criteria of including or excluding a particular disorder in the newborn screening test panel.


I am the Founder and Managing Editor of SciRio, a digital ecosystem for science communicators who want to communicate science to people who are non-experts in any fields of science. After stints as a Research Associate at the Indian Institute of Science and Centre for Human Genetics working on Cancer Research and Developmental Biology, I shifted gears to communicating science and become an entrepreneur.

I established SciRio to support science communicators in networking better, finding appropriate training and resources, and ultimately provide unexplored opportunities to science communicators.

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