Discovering down's syndrome: An account from a low middle income country

Document Type

Article

Department

Medical College Pakistan

Abstract

Objective: This study aims to establish the frequency of Down's syndrome which will enhance the knowledge of our local population as well to understand our genotypic patterns and variations.
Methods: Electronic Medical Records of inborn babies at the Department of Neonatology, Sheikh Saeed Memorial Campus of The Indus Hospital Karachi during the study period from 1st January 2021 to 31st December 2022 were retrieved. Chromosomal karyotyping was done for all babies with suspicious clinical features identified on routine new born examination by consultant neonatologists, trainee doctors and experienced nurses.
Result: There was a total of 7,433 live births during the study period, out of which 14 babies had features suggestive of DS. repetition of sentence. What about karyotyping result??
Conclusion: The frequency of DS in our study is slightly higher than the incidence reported within South East Asia. It is high time to perform effective antenatal screening and efficient prenatal diagnostic services for early detection of chromosomal numerical aberration such as Down syndrome for better management of upcoming pregnancies.

Publication (Name of Journal)

Pakistan Journal of Medical Sciences

DOI

doi.org/10.12669/pjms.40.9.9083

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