title: Risk factors and birth prevalence of birth defects and inborn errors of metabolism in Al Ahsa, Saudi Arabia.
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors: Dammam University, Saudi Arabia.
authors: Waleed Hamad
authors: WH
authors: Al Bu Ali
authors: Magdy Hassan
authors: MH
authors: Balaha
authors: Mohammed Saleh
authors: MS
authors: Al Moghannum
authors: Ibrahim
authors: I
authors: Hashim
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D000013:Congenital Abnormalities / Q000453:epidemiology*; D003241:Consanguinity; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008661:Metabolism, Inborn Errors / Q000453:epidemiology*; D008875:Middle Aged; D047928:Premature Birth / Q000453:epidemiology*; D015995:Prevalence; D012189:Retrospective Studies; D012307:Risk Factors; D012424:Rural Population; D012529:Saudi Arabia / Q000453:epidemiology; D055815:Young Adult