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

IF 1.2 4区医学 Q2 MEDICINE, GENERAL & INTERNAL Pakistan Journal of Medical Sciences Pub Date : 2024-10-01 DOI:10.12669/pjms.40.9.9083

Ayeza Ali, Nabiha Ali, Misbah Iqbal Hanif, Syed Rehan Ali

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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 1^st January 2021 to 31^st 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.

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发现唐氏综合症：一个中低收入国家的故事。

研究目的本研究旨在确定唐氏综合症的发病率，从而增进对本地人口的了解，并了解我们的基因型模式和变异：方法：检索卡拉奇印度河医院 Sheikh Saeed 纪念校区新生儿科在 2021 年 1 月 1 日至 2022 年 12 月 31 日研究期间的新生儿电子病历。新生儿科顾问医生、实习医生和经验丰富的护士对所有在常规新生儿检查中发现有可疑临床特征的婴儿进行了染色体核型分析：结果：研究期间共有 7433 名活产婴儿，其中 14 名婴儿具有 DS 的特征。结论：在我们的研究中，DS的发病率略高于东南亚地区的发病率。现在是进行有效产前筛查和提供高效产前诊断服务的时候了，以便及早发现染色体数目畸变（如唐氏综合症），从而更好地管理即将到来的妊娠。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Pakistan Journal of Medical Sciences 医学-医学：内科

CiteScore

4.10

自引率

9.10%

发文量

363

审稿时长

3-6 weeks

期刊介绍： It is a peer reviewed medical journal published regularly since 1984. It was previously known as quarterly "SPECIALIST" till December 31st 1999. It publishes original research articles, review articles, current practices, short communications & case reports. It attracts manuscripts not only from within Pakistan but also from over fifty countries from abroad. Copies of PJMS are sent to all the import medical libraries all over Pakistan and overseas particularly in South East Asia and Asia Pacific besides WHO EMRO Region countries. Eminent members of the medical profession at home and abroad regularly contribute their write-ups, manuscripts in our publications. We pursue an independent editorial policy, which allows an opportunity to the healthcare professionals to express their views without any fear or favour. That is why many opinion makers among the medical and pharmaceutical profession use this publication to communicate their viewpoint.