AI Article Synopsis
- Consanguinity, common in Saudi Arabia, significantly affects genetic disorders, with 64% of 1100 patients in a study being related by blood.
- The study, conducted at King Abdullah Specialized Children Hospital from 2020 to 2022, found a 45% diagnostic rate for genetic conditions, primarily using whole exome sequencing.
- The results emphasize the high prevalence of related marriages and highlight a common neurodevelopmental issue, underlining the need for understanding genetic risks in this population.
Article Abstract
Background: Consanguinity, or the practice of marrying close relatives, is a common cultural tradition in Saudi Arabia, with rates among the highest in the world. This practice has significant implications for the prevalence and distribution of major single genetic defects and chromosomal abnormalities within the Saudi population.
Methods: Herein, using the BESTCare electronic medical record system (designed to streamline hospital operations, enhance patient care, and improve the overall efficiency of healthcare services; bestcare.ezcaretech.com) in a single tertiary centre, King Abdullah Specialized Children Hospital (KASCH) in Riyadh, Saudi Arabia, we performed a cross-sectional study for all patients referred to the hospital from the 1st January 2020 until 1st January 2022.
Results: The present study, which included 1100 individuals, found a high prevalence of consanguinity (64%) and a significant proportion of third-degree relatives (69%). The mean age of participants was 12.24 years, and the diagnostic rate using advanced molecular genetics techniques was 45%, with whole exome sequencing (WES) being the most common method (43%). The study also noted a significant delay in diagnosis for more than a year in 16% of cases, with a common neurodevelopmental phenotype (18%).
Conclusion: In conclusion, we revealed the prevalence of consanguineous marriages in the KASCH hospital in Riyadh, Saudi Arabia. We also highlighted the most frequently referred phenotype. These findings are consistent with previous research on the prevalence and impact of consanguinity on rare genetic disorders.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11457763 | PMC |
| http://dx.doi.org/10.2147/TACG.S476350 | DOI Listing |
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