Related Experiment Video
Updated: Jul 16, 2025
One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
Published on: June 25, 2010
A retrospective study on newborn screening for metabolic disorders
Karam Chandrajit Singh1, Prabhkiran Dhillon1, Thushara Thulaseedharan1
1Department of Obstretics and Gynaecologist, 7 Airforce Hospital, Kanpur-Cantt, Kanpur, Uttar Pradesh, India.
Insights
Newborn screening (NSB) in Kanpur found no cases of Congenital Hypothyroidism (CH), Cystic Fibrosis (CF), Glucose-6-phosphate dehydrogenase (G6PD) deficiency, or Profound Biotinidase deficiency (BD). This study highlights the need for further research into metabolic disorder prevalence in the region.
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.
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.
Related Concept Videos
01:20Inborn Errors of Metabolism
02:46Genetic Screens
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...