Journal of Inherited Metabolic Disease

, Volume 31, Supplement 2, pp 441–446 | Cite as

International cooperation in the expansion of a newborn screening programme in Lebanon: a possible model for other programmes

  • I. Khneisser
  • S. M. Adib
  • A. Megarbane
  • Z. Lukacs
Online Report


Tandem mass spectrometry (MS/MS) is rapidly gaining support, even in less-developed nations, as the method of choice for the newborn screening of metabolic disorders, although difficulties in acquiring this technology may at times be major obstacles in several Middle East and North Africa (MENA) countries. In Lebanon, international cooperation allowed this acquisition at the Newborn Screening Laboratory (NSL) of the Saint Joseph University (USJ) in the capital city of Beirut. NSL is currently screening up to 20% of all newborns in Lebanon. The expansion was made possible through initial collaboration with the Metabolic Laboratory at the Hamburg University Medical Center (HUMC) and subsequently with other centres. During phase I of the expansion (2006–2007), blood spots were shipped to HUMC with rapid couriers twice a week and electronic reports were sent back generally within 4 days after shipment. Positive cases were recalled to NSL and new specimens were sent back for confirmation at HUMC. During that first phase, the Beirut staff received training at the HUMC and in other centres. Phase II was a transitory period of 4 months during which machines were installed in Beirut and working procedures were adopted and documented. The activity has now entered a consolidation phase (Phase III) in which all measurements are exclusively performed in Beirut while HUMC acts as a backup centre. International cooperation remains crucial for periodic quality assurance procedures, and for supporting the transformation of the USJ-NSL into a training centre able to transfer MS/MS technology to the MENA region.


Positive Predictive Value International Cooperation Newborn Screening 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.



Biochemical Genetics Laboratory


Centers for Disease Control


congenital hypothyroidism


glucose-6-phosphate dehydrogenase




Hamburg University Medical Center


International Society for Neonatal Screening


Middle East and North Africa


tandem mass spectrometry


multiple reaction monitoring


Newborn Screening Laboratory – University Saint Joseph




positive predictive value


total parenteral nutrition



We are greatly indebted to our partners at the Hamburg Metabolic Laboratory who started the process of cooperation with us. Special thanks go to Professor Harry Hannon, head of the Newborn Screening branch at CDC, and to Professor Piero Rinaldo, head of the Biochemical Genetics Laboratory at the Mayo Clinic, for training our staff and for supporting quality improvements in our laboratory and all over the world. We are also grateful for the technical support obtained from the Chromsystem staff in Munich. Meetings of the International Society for Neonatal Screening (ISNS) allowed networking and exchange of ideas that proved invaluable for this project. Finally we would like to thank Ms. Rola Salman and Ms. Maya Rizkallah, for their technical support at the USJ Newborn Screening Laboratory in Beirut. NSL scientific activities are partially funded by the Caisse Nationale de Recherche Scientifique (CNRS) in Lebanon, and by special funds from USJ.


  1. Abdenur JE, Chamoles NA, Guinle AE, Schenone AB, Fuertes ANJ (1998) Diagnosis of isovaleric acidaemia by tandem mass spectrometry: False positive result due to pivaloylcarnitine in a newborn screening programme. J Inherit Metab Dis 21: 624–630. doi:10.1023/A:1005424331822 PubMedCrossRefGoogle Scholar
  2. Bodamer OA, Hoffmann GF, Lindner M (2007) Expanded newborn screening in Europe 2007. J Inherit Metab Dis 30: 439–444. doi:10.1007/s10545-007-0666-z PubMedCrossRefGoogle Scholar
  3. Borrajo GJ (2007) Newborn screening in Latin America at the beginning of the 21st century. J Inherit Metab Dis 30:466–481. doi:10.1007/s10545-007-0669-9 PubMedCrossRefGoogle Scholar
  4. CAS (2006) Government of Lebanon. Office of the Prime Minister. Central Administration for Statistics. (accesses 12 July 2008).
  5. CDC, Center for Disease Control (2007) Quality assurance and proficiency testing for Newborn Screening. (accessed 12 July 2008).
  6. Dionisi-Vici C, Deodato F, Röschinger W, Rhead W, Wilcken B (2006) ‘Classical organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry. J Inherit Metab Dis 29: 383–389. doi:10.1007/s10545-006-0278-z PubMedCrossRefGoogle Scholar
  7. Hannon WH (2003) Performance evaluation for screening laboratories of the Asia-Pacific region. Southeast Asian J Trop Med Public Health 34(Supplement 3): 39–42.PubMedGoogle Scholar
  8. Khneisser I (2007) Newborn screening in Lebanon and the Middle East: realities, needs and prospects for collaboration. Paper presented at 2007 Newborn Screening and Genetic Testing Symposium. 7–10 May, Mineapolis, USA.Google Scholar
  9. Khneisser I, Adib SM, Loiselet J, Megarbane A (2006) Prevalence of G6PD-deficiency and knowledge of diagnosis in a sample of previously unscreened Lebanese males: clinical implications. J Med Screen 13: 26–28. doi:10.1258/096914106776179827 PubMedCrossRefGoogle Scholar
  10. Khneisser I, Adib SM, Loiselet J, Megarbane A (2007a) Cost benefit analysis of G6PD Screening in Lebanese newborn males. J Med Liban 55: 129–132.Google Scholar
  11. Khneisser I, Adib SM, Lukacs Z, Megarbane A (2007b) Newborn screening in Lebanon: 12 years experience. Paper presented at 2nd Pan Arab Human Genetics Conference. 20–22 November, Dubai, UAE.Google Scholar
  12. Khneisser I, Adib SM, Lukacs Z, Megarbane A (2007c) Strategy for expanding a newborn screening program in a under developed country: Lebanon’s experience. Paper presented at 2007 Newborn Screening and Genetic Testing Symposium, 7–10 May, Mineapolis, USA.Google Scholar
  13. Lindner M, Abdoh G, Fang-Hoffmann J, et al (2007) Implementation of extended neonatal screening and metabolic unit in the state of Qatar: Developing and optimizing strategies in cooperation with the Neonatal Screening Center in Heidelbeg. J Inherit Metab Dis 30: 522–529.PubMedCrossRefGoogle Scholar
  14. Loeber JG (2007) Neonatal screening in Europe; the situation in 2004. J Inherit Metab Dis 30: 430–438.PubMedCrossRefGoogle Scholar
  15. Lukacs Z, Santer R (2006) Evaluation of electrospray-tandem mass spectrometry for the detection of phenylketonuria and other rare disorder. Mol Nutr Food Res 50: 443–450.PubMedCrossRefGoogle Scholar
  16. Matern D, Tortorelli S, Oglesbee D, Gavrilov D, Rinaldo P (2007) Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: the Mayo Clinic experience (2004–2007). J Inherit Metab Dis 30: 585–592.PubMedCrossRefGoogle Scholar
  17. Oglesbee D, Sanders SA, Lacey JM, et al (2008) Second-tier test for quantification of alloisoleucine and branched-chain amino acids in dried blood spots to improve newborn screening for maple syrup urine disease (MSUD). Clin Chem 54: 542–549.PubMedCrossRefGoogle Scholar
  18. Padilla CD, Therrell BL (2007) Newborn screening in the Asia Pacific region. J Inherit Metab Dis 30: 490–506.PubMedCrossRefGoogle Scholar
  19. Rinaldo P (2007) Opportunities and limitations of interlaboratory comparison in newborn screening by MS/MS: A progress report of the US Regional Collaborative Project. Paper presented at the 5th European ISNS Congress in Newborn Screening, 10–12 June, Reykjavik, Iceland.Google Scholar
  20. Saadallah AA, Rashed MS (2007) Newborn screening: experiences in the Middle East and North Africa. J Inherit Metab Dis 30: 482–489.PubMedCrossRefGoogle Scholar
  21. Solanki KK (2007). Training programmes for developing countries. J Inherit Metab Dis 30: 596–599.PubMedCrossRefGoogle Scholar
  22. Wilcken B, Wiley V, Hammond, Carpenter K (2003) Screening newborns for inborn errors of metabolism by tandem mass spectrometry. N Engl J Med 348: 2304–2312.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media B.V. 2008

Authors and Affiliations

  • I. Khneisser
    • 1
    • 5
  • S. M. Adib
    • 2
  • A. Megarbane
    • 3
  • Z. Lukacs
    • 4
  1. 1.Newborn Screening Laboratory, Medical Genetics UnitFaculty of Medicine Saint Joseph UniversityBeirutLebanon
  2. 2.Department of Social and Family MedicineSaint Joseph UniversityBeirutLebanon
  3. 3.Medical Genetics UnitFaculty of Medicine Saint Joseph UniversityBeirutLebanon
  4. 4.Hamburg Metabolic Laboratory, Department of PediatricsHamburg University Medical CenterHamburgGermany
  5. 5.Newborn Screening LaboratoryMedical Sciences Campus-USJBeirutLebanon

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