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Al Bu Ali Waleed Hamad, Balaha Magdy Hassan, Al Moghannum Mohammed Saleh, Hashim Ibrahim. Risk factors and birth prevalence of birth defects and inborn errors of metabolism in Al Ahsa, Saudi Arabia. The Pan African Medical Journal. 2011;8:14 Key words: Birth defects, inborn errors of metabolism, newborn, Saudi Arabia Permanent link: http://www.panafrican-med-journal.com/content/article/8/14/full Received: 11/01/2011 - Accepted: 20/02/2011 - Published: 23/02/2011 © Al Bu Ali Waleed Hamad et al. The Pan African Medical Journal - ISSN 1937-8688. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
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 Balaha2,&, Mohammed Saleh Al Moghannum3, Ibrahim Hashim3
1Dammam University, Saudi Arabia, 2King Faisal University, Saudi Arabia, 3Al Ahsa Maternity Hospital, Saudi Arabia
&Corresponding author
Magdy Hassan Balaha, Obstetrics and Gynecology Department, College of Medicine, Al-Ahsa King Faisal University (KFU), Al Ahsa, Saudi Arabia, PO Box: 400 Hofuf 31982, Saudi Arabia.
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.
