Prevalence of Inborn Errors of Metabolism in Neonates BC07-BC13
Dr. Preeti Sharma,
23, Arya Nagar, Surajkund Road, Meerut-250001, Uttar Pradesh, India.
Introduction: Among the most advanced public health promotion and disease prevention programs, the newborn screening is of paramount importance, seeking timely detection, diagnosis and treatment of genetic disorders which may otherwise lead to serious consequences upon the health of newborn.
Aim: To evaluate the prevalence of Inborn Error of Metabolism (IEM) disorders among neonates of various ethnic or racial groups from east, west, north and south, zones of India through newborn screening.
Materials and Methods: A cross-sectional, population based prospective study was conducted at PreventiNe Life Care Laboratories, Navi Mumbai, Maharashtra, India. Study was conducted for a period of three years from October 2012 to November 2015. Mass screening of newborn blood samples was done via TMS/GCMS/Enzyme assay/HPLC/ELISA technique. The blood and urine samples were used for analysis. The samples have been collected from 150 locations through various hospitals across India. Samples obtained were categorised zone wise (east, west, north, south zones of India). For analysis of blood, samples were collected by heel prick method.
Results: In the present study, 2.9% prevalence (of the total 70,590 samples analysed, 2053 cases were found positive) of IEM was observed. Of these positive cases, 13% (279 of 2053 positive cases) cases belonged to eastern zone, 24% (493 of 2053 positive cases) were from northern zone, 38% (793 of 2053 positive cases) were from southern zone and 23% (488 of 2053 positive cases) were from western zone. Among these, the highest prevalent disorder was found to be G6PD deficiency, with 1.3% (923 positive of 70,590) cases reported followed by haemoglobinopathies, 0.5% (360 positive of 70,590) and congenital hyperplasia with 0.34% (239 positive of 70,590) cases of the total newborns, screened.
Conclusion: The newborn screening is expanding its wings throughout the world. The outcome of present data offers a unique opportunity to explore the birth prevalence of inborn metabolic disorders in the current population. Understanding the birth prevalence of these disorders in India from its various zones will definitely improve the short term and long term medical needs faced by affected communities.