Birth Prevalence of Endocrine-Metabolic Disorders Detected by Newborn Screening Test in Pune (India) Population

Area of Science:

• Medical Genetics
• Neonatal Care
• Metabolic Disorders

Background:

• Newborn screening is crucial for identifying treatable inborn errors of metabolism.
• Early diagnosis and intervention prevent severe developmental and health issues.
• A significant number of neonates require timely medical intervention for congenital conditions.

Purpose of the Study:

• To evaluate the prevalence of five key metabolic disorders in a neonatal population.
• To assess the effectiveness of newborn screening protocols in a specific hospital setting.
• To highlight the importance of early detection for improving infant health outcomes.

Main Methods:

• Screening of 8007 neonates over two years using dried blood spots (DBS).
• Utilized Enzyme-linked immunosorbent assay (ELISA), colorimetric, and DELFIA techniques for five tests: Thyroid stimulating Hormone, 17-hydroxyprogesterone, Total Galactose, G6PD, and Biotinidase.
• Confirmed abnormal DBS results through retesting and venous blood collection for affected infants.

Main Results:

• Identified 4 cases of Congenital Hypothyroidism (1:2002).
• Identified 4 cases of Congenital Adrenal Hyperplasia (1:2002).
• Detected 9 cases of G6PD deficiency (1:900), 1 case of galactose-phosphate-uridyl transferase deficiency (1:8000), and 1 case of biotinidase deficiency.

Conclusions:

• Newborn screening effectively identifies critical metabolic disorders.
• Timely diagnosis and management of conditions like Congenital Hypothyroidism and Congenital Adrenal Hyperplasia lead to positive outcomes.
• Early intervention through screening significantly reduces long-term health burdens on individuals and society.