Adam Hiba, Ghenimi Nadirah, ElKhalil Rouwida, Narchi Hassib, Elbarazi Iffat, Al-Rifai Rami H, Ahmed Luai A
Institute of Public Health, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, UAE
Department of Family Medicine, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, UAE.
BMJ Open. 2025 Apr 7;15(4):e093825. doi: 10.1136/bmjopen-2024-093825.
Congenital anomalies (CAs) are significant contributors to perinatal mortality and morbidity. The epidemiology of CAs in the Gulf Cooperation Council (GCC) countries remains insufficiently explored. This scoping review aims to provide a comprehensive overview of the existing literature on the epidemiology of perinatally diagnosed CAs in the GCC countries.
Scoping review.
We searched MEDLINE, Embase, Scopus and Web of Science for articles published between 1 January 2000 and 1 February 2024.
This review included (a) original observational studies such as cross-sectional, cohort or nested case-control studies, which were sourced from general populations, hospital records or registries; (b) published in English between 2000 and 2024; (c) conducted in any of the six GCC countries; and (d) reporting the prevalence or incidence of CAs.
Two reviewers independently screened titles, abstracts and full texts for inclusion and extracted data using Covidence software.
In total, 51 studies reporting the epidemiology of CAs in the GCC countries were eligible and thus summarised. Saudi Arabia dominated with nearly two-thirds of the studies, while Bahrain contributed the least. All studies were hospital based and primarily retrospective. The most researched CAs were cleft lip and cleft palate as well as nervous and circulatory system anomalies, whereas the least researched CAs were chromosomal abnormalities, digestive anomalies and urinary system anomalies. The review reported discrepancies in CA rates across the region, ranging from 2.5 to 68.7 per 1000 live births for multiple anomalies. Few studies explored the association between CAs and risk factors; the main factors reported were advanced maternal age, maternal diabetes and consanguinity.
This review summarises the heightened prevalence of CAs in the GCC countries, discrepancies in estimates and gaps in research on specific anomalies. Future research is warranted to explore the association between CAs and various risk factors, thereby enabling the development of targeted preventive strategies.
先天性异常（CA）是围产期死亡率和发病率的重要影响因素。海湾合作委员会（GCC）国家先天性异常的流行病学情况仍未得到充分研究。本范围综述旨在全面概述GCC国家围产期诊断先天性异常的流行病学现有文献。
范围综述。
我们检索了MEDLINE、Embase、Scopus和科学网，查找2000年1月1日至2024年2月1日期间发表的文章。
本综述纳入（a）来自普通人群、医院记录或登记处的原始观察性研究，如横断面研究、队列研究或巢式病例对照研究；（b）2000年至2024年期间以英文发表；（c）在六个GCC国家中的任何一个国家进行；（d）报告先天性异常的患病率或发病率。
两名评审员独立筛选标题、摘要和全文以确定是否纳入，并使用Covidence软件提取数据。
共有51项报告GCC国家先天性异常流行病学的研究符合条件并进行了总结。沙特阿拉伯的研究占近三分之二，而巴林的研究最少。所有研究均基于医院，主要为回顾性研究。研究最多的先天性异常是唇腭裂以及神经和循环系统异常，而研究最少的先天性异常是染色体异常、消化系统异常和泌尿系统异常。该综述报告了该地区先天性异常发生率的差异，多种异常的发生率为每1000例活产2.5至68.7例。很少有研究探讨先天性异常与危险因素之间的关联；报告的主要因素是高龄产妇、孕产妇糖尿病和近亲结婚。
本综述总结了GCC国家先天性异常患病率的升高、估计差异以及特定异常研究中的差距。未来有必要开展研究，以探索先天性异常与各种危险因素之间的关联，从而制定有针对性的预防策略。
