Risk factors and birth prevalence of birth defects and inborn errors of metabolism in Al Ahsa, Saudi Arabia

Abstract

BackgroundBirth 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.MethodsThis 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.ResultsOut 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.ConclusionFirst 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.

Hepatic Manifestations of 3-Hydroxy-3-Methylglutaryl-Coenzyme-A Lyase Deficiency in Saudi Patients: Experience of a Tertiary Care Center

“…However, it must be noted that the high level of consanguinity is comparable to that among patients who have been reported with other metabolic disorders in Saudi Arabia. 27 Biochemical confirmation of HMGCL deficiency was done by urine organic analysis for all of our patients and 94% of TMS suggested the initial diagnosis. We do not recommend enzymatic essay from skin fibroblast culture or liver tissue, as the metabolic screening is consistent with the biochemical diagnosis.…”

A Case-Control Study for Assessing Risk Factors for Congenital Anomalies among Children in Sulaimani City

“…diabetes and rubella) , lack of environmental protection policies, unsafe working conditions during pregnancy, medication use during pregnancy, common use of home remedies of unknown composition and chemical household cleaners [5]. In addition, growth restriction, preterm delivery, mother's age and weight during pregnancy and parental consanguinity are also associated with birth defects [7,8]. Furthermore, it has been reported that there is an association between environmental exposures such as air pollution, alcohol consumption, environmental tobacco smoking, radiation, pesticides and pregnancy outcomes such as pregnancy loss, stillbirth, fetal growth, preterm birth and congenital anomalies [9][10][11].…”

Epidemiology of Spina Bifida Cystica in Sohag: A Hospital-Based Study

“…26 Genetic risk factor plays a fundamental role; Loss of the Sox2 gene was observed in most cases of NTDs. 2 Positive family history of NTDs was in about 10%, and they increase markedly if there were two previously affected family members. 2 The prevalence of NTDs at birth varied markedly in each country and race.…”

“…2 Positive family history of NTDs was in about 10%, and they increase markedly if there were two previously affected family members. 2 The prevalence of NTDs at birth varied markedly in each country and race. It ranges from as high as 1% in China, to approximately 1 case in 5000 or less in Norway and Sweden.…”