Title
A retrospective study on newborn screening for metabolic disorders
Authors
Karam Chandrajit Singh*, Prabhkiran Dhillon & Thushara Thulaseedharan
Affiliation
Department of Obstretics and Gynaecologist, 7 Airforce Hospital, Kanpur-Cantt, Kanpur, Uttar Pradesh, India; *Corresponding author
Karam Chandrajit Singh – E-mail: karamtondon513@gmail.com; Phone: +91-9894482399
Article Type
Research Article
Date
Received November 1, 2022; Revised December 20, 2022; Accepted December 31, 2022, Published December 31, 2022
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.
Keywords
Newborn screening, G6PD deficiency, thyroid stimulating hormone, immunoreactive trypsinogen, profound biotinidase
Citation
Singh et al. Bioinformation 18(12): 1122-1125 (2022)
Edited by
P Kangueane
ISSN
0973-2063
Publisher
License
This is an Open Access article which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. This is distributed under the terms of the Creative Commons Attribution License.
