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.