Inborn errors of metabolism detectable by tandem mass spectrometry in Egypt: The first newborn screening pilot study.

OBJECTIVES: To estimate the burden of metabolic disorders detectable by tandem mass spectrometry in Egypt, through a pilot expanded newborn screening programme at Cairo University Children's Hospital in 2008, and examining the results of 3,900 clinically at-risk children, investigated at Cairo University Children's Hospital for the same disorders over the past 7 years using the same technology. METHODS: Dried blood spots of 25,276 healthy newborns from three governorates in Upper, Middle, and Lower Egypt were screened, to give a representative sample of the Egyptian newborn population. Based on the pilot study outcomes and the results of clinically suspected children, we estimated the total birth prevalence of tandem mass spectrometry detectable metabolic disorders, and the relative frequency of several individual disorders. RESULTS: Among the healthy newborns, 13 metabolic disorder cases (five phenylketonuria [1:5,000], two methylmalonic acidemia, and isovaleric acidemia [1:12,500], one each of maple syrup urine disease, propionic acidemia, ß-ketothiolase deficiency, and primary carnitine deficiency [1:25,000]) were confirmed, giving a total birth prevalence of 1:1944 live births. Among the clinically suspected children, 235 cases were diagnosed, representing a much wider disease spectrum. CONCLUSIONS: Egypt has one of the highest reported birth prevalence rates for metabolic disorders detectable by tandem mass spectrometry. Early diagnosis and management are crucial for the survival and well-being of affected children. A nationwide NBS programme by tandem mass spectrometry is recommended.

Conference report: second conference of the Middle East and North Africa newborn screening initiative: Partnerships for sustainable newborn screening infrastructure and research opportunities.

The second conference of the Middle East and North Africa newborn screening initiative: partnerships for sustainable newborn screening infrastructure and research opportunities was held in Cairo, Arab Republic of Egypt on April 12 to 14, 2008. Policy makers, health ministry representatives, health care providers, and experts from the region, Europe, Asia, and North America participated. The primary outcome was development of country plans of action to implement or expand newborn screening programs. Country representatives were grouped by current levels of national newborn screening activities based on a Needs Assessment Survey for national newborn screening programs and assisted by international technical experts. The Needs Assessment Survey provided information on the level of newborn screening in each country, strengths and barriers to implementation of newborn screening programs, and identified areas for research. Newborn screening programs require an integrated system of laboratories, health care providers, and educators, thus, the infrastructure put in place to screen for one condition should support expansion to other conditions. Congenital hypothyroidism was selected for initiating newborn screening programs because of its high prevalence, availability of screening methods, and cost-effective intervention. To this end, the conference provided technical sessions on screening and treatment of congenital hypothyroidism, performance standards, quality assurance, follow-up interventions, and patient management. In addition, presentations highlighted the value of integrating research into newborn screening programs as they are established and in evaluating outcomes. Research opportunities were identified at a postconference workshop sponsored by the US Civilian Research Development Foundation.