Ali Ayeza, Ali Nabiha, Hanif Misbah Iqbal, Ali Syed Rehan
Ayeza Ali, Liaquat National Hospital and Medical College, Karachi, Pakistan.
Nabiha Ali, Aga Khan University Hospital, Karachi, Pakistan.
Pak J Med Sci. 2024 Oct;40(9):2149-2151. doi: 10.12669/pjms.40.9.9083.
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.
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 January 2021 to 31 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.
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??
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.
本研究旨在确定唐氏综合征的发生率，这将增进我们对当地人群的了解，同时了解我们的基因型模式和变异情况。
检索了2021年1月1日至2022年12月31日研究期间，位于卡拉奇信德医院谢赫·赛义德纪念校区新生儿科的新生儿电子病历。对所有经新生儿科顾问医生、实习医生和经验丰富的护士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。
研究期间共有7433例活产婴儿，其中14例婴儿具有唐氏综合征的特征。重复句子。核型分析结果如何？
我们研究中唐氏综合征的发生率略高于东南亚地区报告的发病率。现在是时候开展有效的产前筛查和高效的产前诊断服务，以便早期检测出诸如唐氏综合征等染色体数目异常，从而更好地管理即将到来的妊娠。
