Ayeza Ali, Nabiha Ali, Misbah Iqbal Hanif, Syed Rehan Ali
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Discovering down's syndrome: An account from A low middle income country.
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.
期刊介绍：
Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance.
Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.
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