Implementation of extended neonatal screening and a metabolic unit in the State of Qatar: Developing and optimizing strategies in cooperation with the Neonatal Screening Center in Heidelberg
Qatar is a country in the Gulf area and member of the Gulf Cooperation Council states. The country is populated by original Qatari tribes that amount to about 200 000 people and about 600 000 expatriates mainly from Arabic and Asian countries. Inbreeding over centuries and high rates of consanguinity in the Qatari population and in some groups of expatriates, in addition to large family sizes and rapid population growth, have contributed to a high frequency of autosomal recessive disorders. In December 2003 Hamad Medical Corporation in Doha and the University Children’s Hospital of Heidelberg, Germany, started an extended state-wide neonatal screening programme for metabolic and endocrine disorders, with the laboratory situated in Heidelberg, Germany. All aspects of the screening process had to be adapted to the unique situation of the laboratory being 6000 km from the birthplace of the neonates. Within 32 months, samples of 25 214 neonates were screened. In 28 cases an endocrine or metabolic diagnosis was identified (incidence 1:901, in Germany 1:1728). In particular, a variety of monogenic metabolic diseases were prevalent, with 19 patients detected giving an incidence of metabolic diseases of 1:1327 (Germany 1:2517). Each euro spent on the screening programme saved more than 25 euros in health and social costs. The programme revealed a high incidence of treatable inborn metabolic diseases in the population of Qatar. A reliable screening for classical homocystinuria showing a unique incidence of >1:3000 and for sickle cell disease has now been added.
KeywordsCongenital Adrenal Hyperplasia Congenital Hypothyroidism Neonatal Screening Gulf Cooperation Council Homocystinuria
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- Al-Riyami A, Ebrahim GJ (2003) Genetic Blood Disorders Survey in the Sultanate of Oman. J Trop Pediatr 49(Suppl 1): 11–20.Google Scholar
- Christianson A, Howson CP, Modell B (2006) Global Report on Birth Defects. White Plains, NY: March of Dimes Birth Defects Foundation. (marchofdimes.com/globalprograms, February 2006).
- Fang-Hoffmann J, Lindner M, Shahbek N, Barić I, Hoffmann GF (2006) Metabolic medicine: new developments in diagnosis and treatment of inborn errors of metabolism. World J Pediatr 2: 169–176.Google Scholar
- Interdisziplinäre Screeningkommission der Deutschen Gesellschaft für Kinderheilkunde und Jugendmedizin (2002) Richtlinien zur Organisation und Durchführung des Neugeborenenscreenings auf angeborene Stoffwechselstörungen und Endokrinopathien in Deutschland. Monatschr Kinderheilkd 150: 1424–1440.CrossRefGoogle Scholar
- National Newborn Screening and Genetics Resource Center, in collaboration with CDC and the Health Resources and Services Administration (workshop in San Antonio, Texas). CDC MMWR Recommendations and reports 2001/50(PR03): 1–22.Google Scholar