Expanded Newborn Screening Program in Saudi Arabia: Incidence of screened disorders.

AIM: To address the implementation of the National Newborn Screening Program (NBS) in Saudi Arabia and stratify the incidence of the screened disorders. METHODS: A retrospective study conducted between 1 August 2005 and 31 December 2012, total of 775 000 newborns were screened from 139 hospitals distributed among all regions of Saudi Arabia. The NBS Program screens for 16 disorders from a selective list of inborn errors of metabolism (IEM) and endocrine disorders. Heel prick dry blood spot samples were obtained from all newborns for biochemical and immunoassay testing. Recall screening testing was performed for Initial positive results and confirmed by specific biochemical assays. RESULTS: A total of 743 cases were identified giving an overall incidence of 1:1043. Frequently detected disorders nationwide were congenital hypothyroidism and congenital adrenal hyperplasia with an incidence of 1:7175 and 1:7908 correspondingly. The highest incidence among the IEM was propionic acidaemia with an incidence rate of 1:14 000. CONCLUSION: The article highlights the experience of the NBS Program in Saudi Arabia and providing data on specific regional incidences of all the screened disorders included in the programme; and showed that the incidence of these disorders is one of the highest reported so far world-wide.

Marked regional variations in the prevalence of sickle cell disease and ß-thalassemia in Saudi Arabia: findings from the premarital screening and genetic counseling program.

BACKGROUND: Hemoglobinopathies represent a major public health problem in Saudi Arabia (SA). Reports suggest that their higher prevalence is not evenly distributed in SA. Regional differences were studied in sickle cell disease and ß-thalassemia and their at-risk marriages using national data. METHODS: The carrier and case status of sickle cell disease and ß-thalassemia were determined in couples approaching marriage between 2004 and 2009 using standard blood tests. Prevalence of both diseases and at-risk marriages in different SA administrative and geographical regions were calculated and compared. RESULTS: A total of 15,72,140 men and women were examined over 6 years. This represented 0.06% of the entire population of Saudi Arabia. The prevalence of couples who tested positive for sickle cell was 45.1 (42.4 for carriers and 2.7 for cases) per 1000 persons examined. The prevalence was highest in the Eastern region (134.1 per 1000), followed by Southern and Western regions (55.6 and 28.5 per 1000, respectively) and lowest in Central and Northern regions (13.7 and 13.5 per 1000, respectively). The prevalence of couples testing positive for ß-thalassemia was 18.5 (18.0 for carriers and 0.5 for cases) per 1000 persons examined. The prevalence was highest in the Eastern region (59.0), moderate in the Southern, Western and Central regions (14.2, 10.2, and 10.1 per 1000, respectively) and lowest in the Northern region (3.9). CONCLUSION: Vast regional differences in hemoglobinopathies among adult Saudis are being reported that may help policy makers better allocate resources of available preventive programs.