A retrospective study on newborn screening for metabolic disorders

Abstract

The process of testing newborn infants for hormonal, genetic, metabolic, and other disorders is known as newborn screening (NSB). Newborn screening is essential for detecting, diagnosing, and treating disorders that could save serious consequences for a newborn's health. Congenital Hypothyroidism (CH), Cystic Fibrosis (CF), Glucose-6-phosphate dehydrogenase (G6PD) deficiency, and Profound Biotinidase deficiency (BD) are common disorders in India. A retrospective analysis of the results of NBS by Cord blood spots was performed at the department of Obstetrics and Gynecology, 7 Airforce Hospital, Kanpur, Uttar Pradesh, from June 2022 to September 2022. During this period, 26 newborns were screened for four disorders, including CH, CF, G6PD deficiency, and BD. In this investigation, no cases of CH, CF, G6PD deficiency, or BD were found to be positive. The results of the current data provide a distinct opportunity to investigate the birth prevalence of inborn metabolic disorders in the area close to the city of Kanpur.

Biallelic loss-of-function variations in BTD cause profound biotinidase deficiency in an Indian patient

“…While several case reports in India have documented BD in various states, the focus has primarily been on enzymatic activity levels and treatment response [29][30][31][32][33]. Genetic analysis of BTD variants remains limited.…”

“…While several developed countries have implemented comprehensive newborn screening (NBS) programs, many developing nations, including India, lack such widespread access. In these regions, NBS facilities are often limited to private healthcare settings or concentrated in urban areas [29]. These programs are crucial for early detection, allowing for timely intervention with biotin supplementation.…”