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.

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

Saudi Arabia (officially, Kingdom of Saudi Arabia) was established as a sovereign country in 1932, by its founder King Abdulaziz Al-Saud who led a successful campaign that lasted 30 years following the conquest of Riyadh (official capital) to unite large swathes of the Arabian Peninsula With an area of 2,150,000 km, Saudi Arabia occupies 80% of historical Arabia and is the 13th largest country in the world (Fig 1) The King in Saudi Arabia also presides over the Council of Ministers, which represents the executive branch of Government although it also has the power to approve and veto legislations proposed by the Shura Council (Parliament), which has a largely advisory role The presence of the Islamic holiest sites in Mecca and Medina has endowed Saudi Arabia with a special status to the world’s one billion Muslims since its establishment (the King of Saudi Arabia carries the official title of The Custodian of The Two Holy Mosques) With the discovery of massive oil reserves and other natural resources shortly after it was founded, Saudi Arabia has enjoyed vast revenues that made it possible to implement a very ambitious social and economic modernization strategy that transformed a mostly illiterate population to one with a literacy rate of 944% (981% for those <50 years of age who represent 75% of the population), and to become a member of G20, a forum of the world’s 20 major economies

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.97

Genetics and genomic medicine in Saudi Arabia

The biomedical research sector in Saudi Arabia has recently received special attention from the government, which is currently supporting research aimed at improving the understanding and treatment of common diseases afflicting Saudi Arabian society. To build capacity for research and training, a number of centres of excellence were established in different areas of the country. Among these, is the Centre of Excellence in Genomic Medicine Research (CEGMR) at King Abdulaziz University, Jeddah, with its internationally ranked and highly productive team performing translational research in the area of individualized medicine. Here, we present a panorama of the recent trends in different areas of biomedical research in Saudi Arabia drawing from our vision of where genomics will have maximal impact in the Kingdom of Saudi Arabia. We describe advances in a number of research areas including; congenital malformations, infertility, consanguinity and pre-implantation genetic diagnosis, cancer and genomic classifications in Saudi Arabia, epigenetic explanations of idiopathic disease, and pharmacogenomics and personalized medicine. We conclude that CEGMR will continue to play a pivotal role in advances in the field of genomics and research in this area is facing a number of challenges including generating high quality control data from Saudi population and policies for using these data need to comply with the international set up.

/pdf/individualized-medicine-enabled-by-genomics-in-saudi-arabia-4we4xoa3hl.pdf

Individualized medicine enabled by genomics in Saudi Arabia

Context Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder, affecting one in 3000 to 4000 newborns. Since the introduction of a newborn screening program in 1988, more than 300 cases have been identified. The underlying genetic defects have not been systematically studied. Objective To identify the mutation spectrum of CH-causing genes. Methods Fifty-five patients from 47 families were studied by next-generation exome sequencing. Results Mutations were identified in 52.7% of patients (29 of 55) in the following 11 genes: TG, TPO, DUOX2, SLC26A4, SLC26A7, TSHB, TSHR, NKX2-1, PAX8, CDCA8, and HOXB3. Among 30 patients with thyroid dyshormonogenesis, biallelic TG mutations were found in 12 patients (40%), followed by biallelic mutations in TPO (6.7%), SLC26A7 (6.7%), and DUOX2 (3.3%). Monoallelic SLC26A4 mutations were found in two patients, one of them coexisting with two tandem biallelic deletions in SLC26A7. In 25 patients with thyroid dysgenesis, biallelic mutations in TSHR were found in six patients (24%). Biallelic mutations in TSHB, PAX 8, NKX2-1, or HOXB3 were found once in four different patients. A monoallelic CDCA8 mutation was found in one patient. Most mutations were novel, including three TG, two TSHR, and one each in DUOX2, TPO, SLC26A7, TSHB, NKX2-1, PAX8, CDCA8, and HOXB3. SLC26A7 and HOXB3 were novel genes associated with thyroid dyshormonogenesis and dysgenesis, respectively. Conclusions TG and TSHR mutations are the most common genetic defects in Saudi patients with CH. The prevalence of other disease-causing mutations is low, reflecting the consanguineous nature of the population. SLC26A7 mutations appear to be associated with thyroid dyshormonogenesis.

/pdf/molecular-analysis-of-congenital-hypothyroidism-in-saudi-328emggwis.pdf

Molecular Analysis of Congenital Hypothyroidism in Saudi Arabia: SLC26A7 Mutation Is a Novel Defect in Thyroid Dyshormonogenesis.

OBJECTIVES 
To review the screening program for congenital hypothyroidism in the Riyadh Al-Kharj Hospital Programme, Riyadh, Kingdom of Saudi Arabia, and to investigate the clinical and biochemical characteristics of affected infants.
 METHODS 
The study was carried out from 1985 to 2000 in the Clinical Chemistry Division, Department of Pathology, Riyadh Armed Forces Hospital, Kingdom of Saudi Arabia. Laboratory data and case notes of infants diagnosed with congenital hypothyroidism were used to supply the relevant data and information.
 RESULTS 
One hundred and twenty-one thousand, four hundred and four infants were screened over a period of nearly 15 years. The overall incidence of congenital hypothyroidism was 1:2759 live births with a female: male ratio of 1.8:1. The incidence in a rural satellite hospital was 1:1538. No seasonal variation was observed. Apart from jaundice, signs and symptoms of congenital hypothyroidism were rarely present in the neonatal period. The neonatal and maternal parameters of affected infants did not differ significantly from those of other infants. The predominant cause of congenital hypothyroidism was athyreosis (45%), followed by thyroid ectopia (24%) and dyshormonogenesis (17%). The mean age at the start of treatment of infants diagnosed in the screening program was 10.3 days.
 CONCLUSIONS 
The screening program based on initial measurement of thyroid stimulating hormone in cord blood captures 97% of infants born in the Riyadh Al-Kharj Hospital Programme. The incidence of congenital hypothyroidism was 1:2759 live births with a female:male ratio of nearly 2:1. Congenital hypothyroidism infants had similar neonatal parameters as other infants. No seasonality in the incidence of congenital hypothyroidism was observed. In general, affected infants were started on thyroxine very soon after birth.

Screening for congenital hypothyroidism.

Neonatal screening for congenital hypothyroidism in Saudi Arabia: results of screening the first 1 million newborns

The regional screening program for congenital hypothyroidism (CH) in Riyadh Province was started as a pilot study in December 1988. By September 1990, the program covered all deliveries at the Mini...

Neonatal Screening for Congenital Hypothyroidism in Riyadh: Analysis of Six Years' Experience

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Neonatal screening for congenital hypothyroidism in Saudi Arabia: results of screening the first 1 million newborns

Neonatal Screening for Congenital Hypothyroidism in Riyadh: Analysis of Six Years' Experience