A retrospective study on newborn screening for metabolic disorders

Area of Science:

• Medical Genetics
• Neonatal Care
• Public Health

Background:

• Newborn screening (NSB) is crucial for early detection and management of serious infant disorders.
• Common target disorders in India include Congenital Hypothyroidism (CH), Cystic Fibrosis (CF), Glucose-6-phosphate dehydrogenase (G6PD) deficiency, and Profound Biotinidase deficiency (BD).

Purpose of the Study:

• To analyze the results of newborn screening for specific metabolic and genetic disorders in Kanpur, Uttar Pradesh.
• To assess the prevalence of CH, CF, G6PD deficiency, and BD in a cohort of newborns.

Main Methods:

• A retrospective analysis of newborn screening data collected from cord blood spots.
• Screening was conducted at 7 Airforce Hospital, Kanpur, Uttar Pradesh, between June and September 2022.
• 26 newborns were tested for CH, CF, G6PD deficiency, and BD.

Main Results:

• No positive cases were identified for Congenital Hypothyroidism, Cystic Fibrosis, G6PD deficiency, or Profound Biotinidase deficiency.
• The screening identified zero instances of the four targeted disorders in the studied population.

Conclusions:

• The current data suggest a potential low birth prevalence of these specific inborn errors of metabolism in the Kanpur region.
• Further investigation into the birth prevalence of metabolic disorders in this area is warranted.