Al Mana General Hospital, Saudi Arabia
Title: Towards a uniform newborn screening panel in the kingdom of Saudi Arabia
Ahmed Bashir is a visiting Associate Project Scientist in Department of Human Genetics and Professor at David Geffen School of Medicine at UCLA. He is a Medical Director of AlMana Medical Center Saudi Arabia. He completed his Medicine in 1980, Ph.D in 1996 and MD in 2006. He has Executive level Leadership with extensive experience in Pediatrics, Neonatology, and Medical Genetics. He is the member of Jubail Pediatrics Club & Jubail Neonatal Club.
Newborn Screening, involves a complex set of interlocking systems that use population based screening test panels to identify newborn with condition that may benefit rapid identification and treatment. The American College of Medical Genetics (ACMG) outlines the minimum criteria for which disease should be tested.This paper will briefly review the importance of Newborn Screening and will discuss its application in Saudi Arabia. It will briefly review test for: Tandem Mass Spectrometry (MS/MS), hyperphenylalaninemia (PKU), Amino Acids,Organic acid metabolism, Fatty acid oxidation, Biotinidase deficiency, Congenital Hypothyroidism (CH), Congenital Adrenal Hyperplasia (CAH), DNA-based Techniques, Array, Sequencing, multiplex PCR, Multiplex, Hemoglonobinopathies, Transferrin Isoelectrofocusing (Tf-IEF) for congenital disorders of glycosylation (CDG), Nanochip system for heteozygote detection in Premarital Genetic Diagnostics (PGD), High Performance Liquid Chromatography (HPLC) for Amino Acids Analysis (AAA). Birth rate between 500,00-800,000 annually, with high prevalence of some inherited conditions due to high rate of consanguineous marriage, large families, multiple marriages, tribal communities, condensed and cities and empty rural areas. High rate of hemoglobinopathies, metabolic, neurogenic, genetic diseases. The following diseases are common in Saudi Arabia; Glutaric Academia, Hemoglobinopathies, Cystic Fibrosis (CF), Congenital Adrenal Hyperplasia (CAH), Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD-D). Ministry of Health (1991), King Faial Specialist Hospital (2005), Prince Salman Disability Research Center (2005), covering one of five regions, testing only 25% of the population.