Seminars in Perinatology
Volume 34, Issue 2 , Pages 145-155 , April 2010

Newborn Screening Progress in Developing Countries—Overcoming Internal Barriers

  • Carmencita D. Padilla, MD, MAHPS

      Affiliations

    • Department of Pediatrics, College of Medicine, University of the Philippines—Manila, Manila, Philippines
    • Newborn Screening Reference Center, National Institutes of Health (Philippines), Ermita, Manila, Philippines
    • Corresponding Author InformationAddress reprint requests to Carmencita D. Padilla, MD, MAHPS, Department of Pediatrics, College of Medicine, University of the Philippines, Pedro Gil Street, Ermita, Manila 1000, Philippines
    • ,
  • Danuta Krotoski, PhD

      Affiliations

    • Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD
    • ,
  • Bradford L. Therrell Jr, MS, PhD

      Affiliations

    • National newborn Screening and Genetics Resource Center, Austin, TX
    • Department of Pediatrics, University of Texas Health Center at San Antonio, San Antonio, TX

References 

  1. Therrell BL. U.S. newborn screening policy dilemmas for the twenty-first century. Mol Genet Metab. 2001;74:64–74
  2. Padilla CD, Therrell BL. Newborn screening in the Asia Pacific region. J Inherit Metab Dis. 2007;30:490–506
  3. Padilla CD. Towards universal newborn screening in developing countries: obstacles and the way forward. Ann Acad Med Singapore. 2008;37(suppl 3):6–9
  4. Krotoski D, Namaste S, Raouf RK, et al. Conference report: second conference of the Middle East and North Africa newborn screening initiative: partnerships for sustainable newborn screening infrastructure and research opportunities. Genet Med. 2009;11:663–668
  5. Saadallah AA, Rashed MS. Newborn screening: experiences in the Middle East and North Africa. J Inherit Metab Dis. 2007;30:482–489
  6. Padilla CD, Therrell BL. Consolidating newborn screening efforts in the Asia Pacific region: technical report. http://www.newbornscreening.ph/images/stories/ResourcesTechnicalDocuments/Technical%20Document%201.pdfAccessed December 21, 2009
  7. Therrell BL. The Philippine newborn screening system: a successful model for developing programs. Acta Med Philipp. 2009;43:5
  8. Christianson A, Howson CP, Modell B. Global Report on Birth Defects. White Plains, NY: March of Dimes Birth Defects Foundations; 2006;
  9. UNICEF. The State of the world's children—special edition celebrating 20 years of the convention on the rights of the child (statistical tables). In: New York, NY: UNICEF; November 2009;p. 1–52http://www.unicef.org/rightsite/sowc/pdfs/statistics/SOWC_Spec_Ed_CRC_Statistical_Tables_EN_111809.pdfAccessed December 22, 2009
  10. Palau statistics. http://www.cia.gov/library/publications/the-world-factbook/geos/ps.htmlAccessed December 23, 2009
  11. Bittles AH. When cousins marry: a review of consanguinity in the Middle East. Perspect Hum Biol. 1995;1:71–83
  12. Teebi AS, El Shanti LI. Consanguinity: implications for practice, research, and policy. Lancet. 2006;367:970–971
  13. Bittles AH. A community genetics perspective on consanguineous marriage. Community Genet. 2008;11:324–330
  14. Hamamy H, Bittles AH. Genetic clinics in Arab communities: meeting individual, family and community needs. Public Health Genomics. 2008;12:30–40
  15. Marrakech Declaration. http://isns.napoleon.ch/upload/dokumente/marrakech_declaration.pdfAccessed December 20, 2009
  16. Cebu Declaration. http://www.newbornscreening.ph/images/stories/ResourcesTechnicalDocuments/cebu%20declaration.pdfAccessed December 20, 2009
  17. Padilla CD, Basilio J, Therrell BL. A performance evaluation and assessment scheme (PEAS) for improving the Philippine newborn screening program. Acta Med Philipp. 2009;43:58–63
  18. Therrell BL, Schwartz M, Southard C, et al: Newborn screening system performance evaluation assessment scheme (PEAS). Semin Perinatol (in press)
  19. Ying D, Chen R, Shen Y, et al. Neonatal screening in mainland China: current status and future plans and proposals. In:  Lam TS,  Pang C editor. Neonatal and Perinatal Screening. Hong Kong: Chinese University Press; 1996;p. 21–23
  20. Padilla CD, Basilio JA, Oliveros YE. Newborn screening: research to policy. Acta Med Philipp. 2009;43:6–14
  21. Republic Act 9288: an act promulgating a comprehensive policy and a national system for ensuring newborn screening. http://www.nsrc-nih.org.ph/resources/Policies/RA%209288.pdfAccessed October 19, 2008
  22. The United Nation Convention on the Rights of the Child. http://untreaty.un.org/English/TreatyEvent2001/pdf/03e.pdfAccessed October 19, 2009
  23. Therrell BL, Panny SR, Davidson A, et al. US newborn screening system guidelines: statement of the Council of Regional Networks for Genetic Services. Screening. 1992;1:135–147
  24. Therrell BL, Padilla CD. Screening of Newborns for Congenital Hypothyroidism. Vienna, Austria: International Atomic Energy Agency; 2005;
  25. Lindner M, Abdoh G, Fang-Hoffman J, et al. Implementation of extended neonatal screening and a metabolic unit in the state of Qatar: developing and optimizing strategies in cooperation with the Neonatal Center in Heidelberg. J Inherit Metab Dis. 2007;30:522–529
  26. Association of State and Territorial Health Officials. Newborn screening position statement. http://www.astho.org/Advocacy/Policy-and-Position-Statements/2009-Newborn-Screening/Accessed December 16, 2009
  27. Solanki KK. Training programmes for developing countries. J Inherit Metab Dis. 2007;30:596–599
  28. Fukushi M. An international training and support programme for the establishment of neonatal screening in developing countries. J Inherit Metab Dis. 2007;30:593–595
  29. Therrell BL, Hannon WH. National evaluation of US newborn screening system components. Ment Retard Dev Disabil Res Rev. 2006;12:236–245
  30. Webster D. Quality performance of newborn screening systems: strategies for improvement. J Inherit Metab Dis. 2007;30:576–584
  31. Mathias D, Gebhard J, Wilhelm L, et al. 26 years of external quality controls for the screening of congenital metabolic disorders in newborns—a summary of the results. Clin Lab. 2008;54:103–108
  32. Khneisser IS, Adib M, Megarbane A, et al. International cooperation in the expansion of a newborn screening programme in Lebanon: a possible model for other programmes. J Inherit Metab Dis [online]. November 19, 2008;online report 005
  33. Han LS, Ye J, Qiu XL, et al. Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report. J Inherit Metab Dis. 2007;30:507–514

 Supported in part by HRSA grant U32MC00148.

PII: S0146-0005(09)00112-8

doi: 10.1053/j.semperi.2009.12.007

Seminars in Perinatology
Volume 34, Issue 2 , Pages 145-155 , April 2010

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