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Newborn screening: Experiences in the Middle East and North Africa

  • A. A. Saadallah
  • M. S. Rashed
Newborn Screening

Summary

This review presents the current experiences with newborn screening in the Middle East and North Africa region. The population in the region is about 400 million, with high birth rate and an estimated 10 million newborns per year. The majority of the population is of the Islamic faith and mostly Arab. The population is characterized by a high consanguinity (25–70%) and a high percentage of first-cousin marriages. Haemoglobin disorders, inherited metabolic disorders, neurogenetic disorders and birth defects are relatively common among the population. There is a rather slow progress in developing and implementing preventive genetic programmes owing to legal, cultural, political and financial issues. Although research spending is rather soft in the region, there are numerous pilot studies that highlighted the high incidence of genetic defects and the need for newborn screening programmes. Currently, there are only four countries that are executing national newborn screening but they vary from one disease to 23 and coverage is not complete. The region needs to take big steps towards developing national strategies for prevention and should learn from experiences of regional and international screening programmes.

Keywords

Congenital Adrenal Hyperplasia Newborn Screening Preimplantation Genetic Diagnosis Congenital Hypothyroidism G6PD Deficiency 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Supplementary material

10545_2007_Article_660_ESM.pdf (28 kb)
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References

  1. Ahmed S, Green JM, Hewison (2006) Attitudes towards prenatal diagnosis and termination of pregnancy for thalassaemia in pregnant Pakistani women in the North of England. Prenat Diagn 26: 248–257.PubMedCrossRefGoogle Scholar
  2. Al-Arrayed SS (1999) Review of the spectrum of genetic diseases in Bahrain. East Mediterr Health J 5:1114–1120.PubMedGoogle Scholar
  3. Al-Arrayed SS (2005) Campaign to control genetic blood diseases in Bahrain. Community Genet 8: 52–55.PubMedCrossRefGoogle Scholar
  4. Al-Essa M, Ozand PT, Al-Gain SI (1997) Awareness of inborn errors of metabolism among parents in Saudi Arabia. Ann Saudi Med 17: 562–564.PubMedGoogle Scholar
  5. Alexander D, van Dyck PC (2006) A vision of the future of newborn screening. Pediatrics 117: S350–S354.PubMedCrossRefGoogle Scholar
  6. Al-Gazali L, Hamamy H, Al-Arrayad S (2006) Genetic disease in the Arab World. BMJ 333: 831–834.PubMedCrossRefGoogle Scholar
  7. Al-Hosani H, Salah M, Saade D, Osman H, Al-Zahid J (2003) United Arab Emirates national newborn screening programme: an evaluation 1998–2000. East Mediterr Health J 9: 324–332.Google Scholar
  8. Al-Jurayyan NA, Al-Herbish As, El-Desouki MI, Al-Nuaim AA, Abo-Bakr AM, Al-Husain MS (1997) Congenital anomalies in infants with congenital hypothyroidism: is it a coincidental or an associated finding?. Hum Hered 47: 33–37.PubMedGoogle Scholar
  9. Al-Odaib AN, Abu-Amero KK, Ozand PT, Al-Helani AM (2003) A new era of preventive genetic programs in the Arabian Peninsula. Saudi Med J 24: 1168–1175.PubMedGoogle Scholar
  10. Al-Riyami AA, Suleiman AJ, Afifi M, Al-Lamki ZM, Daar S (2001) A community-based study of common hereditary blood disorders in Oman. East Mediterr Health J 7: 1004–1011.PubMedGoogle Scholar
  11. Al-Sayed M, Alahmed S, Alsmadi O, et al (2005) Identification of a common novel mutation in Saudi patients with argininosuccinic aciduria. J Inherit Metab Dis 28: 877–883.PubMedCrossRefGoogle Scholar
  12. Al-Sayed M, Imtitiaz F, Alsmadi OA, Rashed MS, Meyer BF (2006) Mutations underlying 3-hydroxy-3-methyglutaryl CoA lyase deficiency in the Saudi population. BMC Med Genet 7: 86.PubMedCrossRefGoogle Scholar
  13. Al-Sayed M, Al-Hassan S, Rashed MS, Qeba M, Coskun S (2007) Preimplantation genetic diagnosis for Zellweger syndrome. Fertil Steril 87(6): 1468 e1–3. [Epub ahead of print].PubMedGoogle Scholar
  14. Alsmadi O, Alkayal F, Al-Sayed M, Rashed MS, Imtiaz F, Meyer BF (2006) LCGreen I-based real-time PCR assays for detecting common ASL and HMGCL variants. Clin Chem 52: 1439–1440.PubMedCrossRefGoogle Scholar
  15. Bayoumi RA, Yardumian A (2006) Genetic disease in the Arab World. Editorial. BMJ 333: 819.PubMedCrossRefGoogle Scholar
  16. Bhutta ZA, Belgaumi A, Abdur Rab M, Karrar Z, Khashaba M, Mouane N (2006) Child health and survival in the Eastern Mediterranean region. BMJ 333: 839–842.PubMedCrossRefGoogle Scholar
  17. Bittles AH (1995) When cousins marry: a review of consanguinity in the Middle East. Prespect Hum Biol 1: 71–83.Google Scholar
  18. Bittles AH, Neel JV (1994) The costs of human inbreeding and their implications for variation at the DNA level. Nat Genet 8: 117–121.PubMedCrossRefGoogle Scholar
  19. Devi AR, Rao NA, Bittles AH (1987) Inbreeding and the incidence of childhood genetic disorders in Karantaka, South India. J Med Genet 24:362–365.PubMedCrossRefGoogle Scholar
  20. Elbualy M, Bold A, De Silva V, Gibbons U (1998) Congenital hypothyroid screening: the Oman experience. J Trop Pediatr 44: 81–83.PubMedCrossRefGoogle Scholar
  21. El-Hazmi MA (2004) The natural history and the national pre-marital screening program in Saudi Arabia. Saudi Med J 25: 1549–1554.PubMedGoogle Scholar
  22. Ellaway CJ, Wilcken B, Christodoulou J (2002) Clinical approach to inborn errors of metabolism presenting in the newborn period. J Paediatr Child Health 38: 511–517.PubMedCrossRefGoogle Scholar
  23. Ensenauer, RE, Michels VV, Reinke, SS (2005) Genetic Testing: Practical, Ethical, and Counseling Considerations. Mayo Clinic Proceedings 80: 63–73.Google Scholar
  24. Hathout H (2006) An Islamic prespective on human genetic and reproductive technologies. East Mediterr Health J 12 (Supplement 2): S22–28.PubMedGoogle Scholar
  25. Hashishe MM (1992) Genetic study of phenylketonuria. J Egypt Pub Health Assoc 67: 443–463.Google Scholar
  26. Howse JL, Weiss M, Green NS (2007) Critical role of the March of Dimes in the expansion of newborn screening. Ment Retard Dev Disabil Res Rev 12: 280–287.CrossRefGoogle Scholar
  27. Huang MC, Lin SJ (2003) Newborn screening: should explicit parental consent be required? Acta Paediatr Taiwan 44: 126–129.PubMedGoogle Scholar
  28. Ilkilic I (2005) New bioethical problems as a challenge for muslims. Retrieved from polylog: forum for intercultural philosophy at <http://them.polylog.org/6/fii-en.htm>.
  29. Joshi SN, Venugopalan P (2007) Clinical characteristics of neonates with inborn errors of metabolism detected by tandem MS analysis in Oman. Brain Dev Feb 19. [Epub ahead of print].Google Scholar
  30. Joshi SN, Hashim J, Venugopalan P (2002) Pattern of inborn errors of metabolism in an Omani population of the Arabian Peninsula. Ann Trop Paediatr 22: 93–96.PubMedCrossRefGoogle Scholar
  31. Kambouris M, Banjar H, Moggari I, Nzaer H, Al-Hamed M, Meyer BF (2000) Identification of novel mutations in Arabs with cystic fibrosis and their impact on the cystic fibrosis transmembrane regulator mutation detection rate in Arab population. Eur J Pediatr 159: 303–309.PubMedCrossRefGoogle Scholar
  32. Lubani MM, Issa AR, Bushnaq R, et al (1990) Prevalence of congenital adrenal hyperplasia in Kuwait. Eur J Pediatr 149: 391–392.PubMedCrossRefGoogle Scholar
  33. Meyer BF (2005) Strategies for the prevention of hereditary diseases in a highly consanguineous population. Ann Hum Biol 32: 174–179.PubMedCrossRefGoogle Scholar
  34. Nasserullah Z, Al Shammari A, Abbas MA, et al (2003) Regional experience with newborn screening for sickle cell disease, other hemoglobinopathies and G6PD deficiency. Ann Saudi Med 23: 354–357.PubMedGoogle Scholar
  35. Nazer HM (1992) Early diagnosis of cystic fibrosis in Jordanian children. J Trop Pediatr 38: 113–115.PubMedGoogle Scholar
  36. Ordookhani A, Mirmiran P, Moharamzadeh M, Hedayati M, Azizi F (2004) A high prevalence of consanguineous and severe congenital hypothyroidism in an Iranian population. 17: 1201–1209.Google Scholar
  37. Ozand PT, Al-Aqeel A, Gascon G, Brismar J, Thomas E, Gleispach H (1991) 3-Hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency in Saudi Arabia. J Inherit Metab Dis 14: 174–188.PubMedCrossRefGoogle Scholar
  38. Ozand PT, Devol EB, Gascon GG (1992) Neurometabolic diseases at a national referral center: five years experience at the King Faisal Specialist Hospital and Research Centre. J Child Neurol 7(Supplement): S4–11.PubMedCrossRefGoogle Scholar
  39. Rashed MS (2001) Clinical applications of tandem mass spectrometry: ten years of diagnosis and screening for inherited metabolic diseases. J Chromatogr 758: 27–48.CrossRefGoogle Scholar
  40. Rashed M, Ozand PT, Al Aqeel A, Gascon GG (1994) Experience of King Faisal Specialist Hospital and Research Centre with Saudi organic acid disorders. Brain Dev 16 (Supplement): 1–6.PubMedCrossRefGoogle Scholar
  41. Rashed MS, Ozand PT, Bennett MJ, Barnard JJ, Govindaraju DR, Rialdo P (1995a) Inborn errors of metabolism diagnosed in sudden death cases by acylcarnitine analysis of postmortem bile. Clin Chem 41: 1109–1114.PubMedGoogle Scholar
  42. Rashed MS, Ozand PT, Bucknall MP, Little D (1995b) Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry. Pediatr Res 38: 324–331.PubMedGoogle Scholar
  43. Rashed MS, Bucknall MP, Little D, et al (1997) Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles. Clin Chem 43: 1129–1141.PubMedGoogle Scholar
  44. Rashed MS, Rahbeeni Z, Ozand PT (1999) Applications of electrospray tandem mass spectrometry to neonatal screening. Semin Perinatol 23: 183–193.PubMedCrossRefGoogle Scholar
  45. Tarini BA, Christakis DA, Welch G (2006) State newborn screening in the tandem mass spectrometry era: more tests, more false-positive results. Pediatrics 118: 448–456.PubMedCrossRefGoogle Scholar
  46. Teebi A, El-Shanti H (2006) Consanguinity: implications for practice, research, and policy. The Lancet 367: 970–971.CrossRefGoogle Scholar
  47. Teebi A, Farag T (1997) Genetic disorders among Arab populations. New York: Oxford University Press. [Oxford Monographs on Medical Genetics No. 30].Google Scholar
  48. Teebi AS, Al-Awadi SA, Farag TI, Naguib KK, El-Khalifa MY (1987) Phenylketonuria in Kuwait and Arab countries. Eur J Pediatr 146: 59–60.PubMedCrossRefGoogle Scholar
  49. Therrell B (2001) U.S. Newborn screening policy dilemmas for the twenty-first century. Mol Genet Metab 74: 64–74.PubMedCrossRefGoogle Scholar

Copyright information

© SSIEM and Springer 2007

Authors and Affiliations

  1. 1.National Laboratory for Newborn ScreeningKing Faisal Specialist Hospital & Research CentreRiyadhSaudi Arabia

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