Presenter: Ahmed Bashir, Al Mana Group of Hospitals
Background: Newborn screening uses population based screening test panels to identify newborns with medical conditions that could fit from early diagnosis and treatment. It involves a complex set of interlocking components with proper communication channel between the laboratory and the referring doctor. Minimal criteria for which disease should be tested within 24-48 hours postnatally were outlined by American College of Medical Genetics in 2006.
Methodology: The tests used in this study were: Guthrie test for Hyperphenylalaninemia (PKU), Tandem mass spectrometry (MS/MS, DNA techniques, IEF, and HPLC labeled bead technology.
Results: Saudi Arabia started national screening for Congenital Hypothyroidism in 1991. The program expanded in 2007 to include 23 other diseases tested. Between 2005 and 2007, Ministry of Health, King Faisal Specialist and Prince Salman Disability Research Center tested 25% of the newborns, and between 2007 and 2009 these institutes screened 50% of the newborns in the country.
Conclusions: Newborn screening is done in only in three Saudi major cities by three Institutes, two are only located in one city. It is recommended that the Ministry of Health should generalize a universal panel newborn screening program in the whole country.