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Risk factors and birth prevalence of birth defects and inborn errors of metabolism in Al Ahsa, Saudi Arabia
Waleed Hamad Al Bu Ali1, Magdy Hassan Balaha, Mohammed Saleh Al Moghannum
1Dammam University, Saudi Arabia.
Insights
Consanguinity is a significant risk factor for birth defects and inborn errors of metabolism in Saudi Arabia. This study highlights the need for genetic counseling and interventions to mitigate these risks.
Area of Science:
- Medical Genetics
- Pediatrics
- Public Health
Background:
- Birth defects and inborn errors of metabolism contribute to adverse perinatal and neonatal outcomes.
- Understanding their prevalence is crucial for targeted interventions.
Purpose of the Study:
- To investigate the pattern and prevalence of birth defects and metabolic errors in Al-Ahsa Governorate, Saudi Arabia.
- To identify associated risk factors.
Main Methods:
- Retrospective case-control study (April 2006-2009).
- Included neonates with birth defects or metabolic errors; controls were healthy live births.
- Utilized ICD-10 codes and blood tests for genetic disorders.
Main Results:
- Prevalence: 1.14% for birth defects, 0.17% for metabolic errors.
- Common birth defects: craniofacial malformations. Most common metabolic error: 3-methylcrotonyl-CoA carboxylase deficiency.
- Risk factors: Consanguinity, rural residence, and prematurity increased birth defect risk; consanguinity and low birth weight increased metabolic error risk.
Conclusions:
- First-cousin consanguinity is the most significant risk factor for both conditions.
- High inbreeding and consanguinity may worsen underlying recessive genetic risks.
Background:
Birth defects and inborn errors of metabolism are related to variable poor perinatal and neonatal outcomes. Our aim was to explore the pattern and prevalence of birth defects and metabolic birth errors in Al-Ahsa Governorate in the Eastern Province of Saudi Arabia.
Methods:
This retrospective case control study was done from April 2006 to 2009. Children with any birth defect or metabolic errors of metabolism at birth or in the neonatology section were our sample for study. Control group was randomly selected from the cases with normal live births. Blood tests were performed for children suspected to suffer from genetic blood disorders. The principal BD as per the International Classification of Diseases-10 (ICD-10) code was also noted.
Results:
Out of 38001 live births, birth defects were found in 1.14% and errors of metabolism were detected in 0.17%. The most common birth defects were craniofacial malformations. The 3-methylcrotonyl-CoA carboxylase deficiency was the most common inborn errors of metabolism. Consanguinity, rural residence and prematurity were associated with significant rise in birth defects. On the other hand, consanguinity and low birth weight were associated with significant rise in metabolic errors.
Conclusion:
First cousins consanguinity represented the most significant risk factor for birth defects and inborn errors of metabolism. High degree of inbreeding, consanguinity may exacerbate underlying recessive genetic risk factors.
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