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Newborn screening in India
A Radha Rama Devi1, S M Naushad
1Diagnostic Division, Center for DNA Fingerprinting and Diagnostics, Hyderabad, India. radha@cdfd.org.in
Insights
Expanded newborn screening (NBS) detects treatable inborn errors of metabolism early. This study found a high prevalence of these disorders in India, highlighting the need for nationwide screening programs.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Expanded newborn screening (NBS) is crucial for early detection and intervention of metabolic disorders.
- Establishing the incidence of these conditions in specific regions is vital for public health planning.
Purpose of the Study:
- To implement and evaluate the first expanded NBS program in Hyderabad, Andhra Pradesh.
- To determine the prevalence of treatable inborn errors of metabolism in newborns in this region.
Main Methods:
- Heel prick capillary blood samples collected on S&S 903 filter paper from newborns.
- Utilized chromatographic (TLC, HPLC), electrophoretic (cellulose acetate, agarose), and ELISA assays for screening.
- Screened for common inborn errors of metabolism.
Main Results:
- A high prevalence of treatable inborn errors of metabolism was observed.
- Congenital hypothyroidism (1 in 1700) and Congenital Adrenal Hyperplasia (1 in 2575) were most common.
- Hyperhomocysteinemia incidence was 1 in 100, with an overall rate of 1 in 1000 newborns affected by metabolic disorders.
Conclusions:
- The study demonstrates a significant burden of treatable inborn errors of metabolism in the region.
- Results underscore the importance of newborn screening in India.
- Advocates for the implementation of a nationwide, large-scale newborn screening program.
Abstract:
Expanded newborn screening (NBS) is aimed for early detection and intervention of treatable inborn errors of metabolism and also to establish incidence of these disorders in this part of the globe. The first expanded NBS programme initiated in the capital city of Andhra Pradesh to screen all the newborns born in four major Government Maternity Hospitals in Hyderabad by heel prick capillary blood collected on S&S 903 filter paper. Chromatographic (TLC and HPLC), electrophoretic (cellulose acetate and agarose) and ELISA based assays have been employed for screening of common inborn errors of metabolism. This study has shown a high prevalence of treatable Inborn errors of metabolism. Congenital hypothyroidsm is the most common disorder (1 in 1700) followed by congenital Adrenal Hyperplasia (1 in 2575) and Hyperhomocystenemia (1 in 100). Interestingly, a very high prevalence of inborn errors of metabolism to the extent of 1 in every thousand newborns was observed. The study reveals the importance of screening in India, necessitating nation wide large-scale screening.
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