Skip to main content
Log in

Newborn screening in the Asia Pacific region

  • Newborn Screening
  • Published:
Journal of Inherited Metabolic Disease

Summary

The success of blood spot newborn screening in the USA led to early screening efforts in parts of the Asia Pacific Region in the mid-1960s. While there were early screening leaders in the region, many of the countries with depressed and developing economies are only now beginning organized screening efforts. Four periods of screening growth in the Asia Pacific region were identified. Beginning in the 1960s, blood spot screening began in New Zealand and Australia, followed by Japan and a cord blood screening programme for G6PD deficiency in Singapore. In the 1980s, established programmes added congenital hypothyroidism and new programmes developed in Taiwan, Hong Kong, China (Shanghai), India and Malaysia. Programmes developing in the 1990s built on the experience of others developing more rapidly in Korea, Thailand and the Philippines. In the 2000s, with limited funding support from the International Atomic Energy Agency, there has been screening programme development around detection of congenital hypothyroidism in Indonesia, Mongolia, Sri Lanka, Myanmar and Pakistan. Palau has recently contracted with the Philippine newborn screening programme. There is little information available on newborn screening activities in Nepal, Cambodia, Laos and the other Pacific Island nations, with no organized screening efforts apparent. Since approximately half of the births in the world occur in the Asia Pacific Region, it is important to continue the ongoing implementation and expansion efforts so that these children can attain the same health status as children in more developed parts of the world and their full potential can be realized.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

References

  • American Academy of Pediatrics, Newborn Screening Task Force (2000) Serving the family from birth to the medical home—Newborn screening: a blueprint for the future. Pediatrics 106(supplement): 383–427.

    Google Scholar 

  • Amino Y (1987) Quality control system in Japan. In: Therrell BL, ed. Advances in Neonatal Screening. Amsterdam: Elsevier Science Publishers, 531–535.

    Google Scholar 

  • Aoki K (2003) Newborn screening in Japan. Southeast Asia J Trop Med Pub Health 34(Supplement 3): 80.

    Google Scholar 

  • Bhatara V, Sankar R, Jurgen U, Peabody J (2002) A review of the case for neonatal thytropin screening in developing countries: the example of India. Thyroid 12: 591–598.

    Article  PubMed  CAS  Google Scholar 

  • Charoensiriwatana W, Janejai N, Boonwanich W, Krasao P, Nakpresit S (1995) Establishment of national neonatal screening programme in Thailand. In: Therrell B, Aldis B, eds. Proceedings of 11th national Neonatal Screening Symposium, September 12–16, 1995, Corpus Christi, Texas. Washington, D.C.: Association of State and Territorial Public Health Laboratory Directors, 1–4.

    Google Scholar 

  • Charoensiriwatana W, Janejai N, Boonwanich W, Krasao P, Chaisomechit S, Waiyasilp S (2003) Neonatal screening program in Thailand. Southeast Asia J Trop Med Pub Health 34(Supplement 3): 94–100.

    Google Scholar 

  • Carpenter KH, Wilcken B (1999) Neonatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and implications for newborn screening by tandem mass spectrometry. J Inherit Metab Dis 22: 840–841.

    Article  PubMed  CAS  Google Scholar 

  • Chen JS (1993) The organization of neonatal screening programs and international cooperation systems in Taiwan. In: Takasugi N, Naruse H, eds. New Trends in Neonatal Screening. Sapporo: Hokkaido University Press, 33–35.

    Google Scholar 

  • Chen R, Guo Di (1983) The initiation of neonatal programmed in Shanghai, China. In: Naruse H, Irie M, eds. Neonatal Screening. Amsterdam: Excerpta Medica, 483–484.

    Google Scholar 

  • Chiang S-H, Wu K-F, Liu T-T, Wu, S-J, Hsiao K-J (2003) Quality assurance program for neonatal screening of glucose-6-phosphate dehydrogenase deficiency. Southeast Asia J Trop Med Pub Health 34(Supplement 3): 130–134.

    Google Scholar 

  • Choo KE, Ariffin WA, Normah J, Oppenheimer SF, Selamah G (1994) Cord blood G6PD activity in Malay neonates. In: Takasugi N, Naruse H, eds. New Trends in Neonatal Screening. Sapporo: Hokkaido University Press, 7–10.

    Google Scholar 

  • Crossley JR, Elliott RB, Smith PA (1979) Dried-blood spot screening for cystic fibrosis in the newborn. Lancet 1: 472–474.

    Article  PubMed  CAS  Google Scholar 

  • Devi AR, Rao NA, Bittles AH (1983) Newborn screening for aminoacidopathies in South India. In: Naruse H, Irie H, eds. Neonatal Screening. Amsterdam: Elsevier Science Publishers, 493–494.

    Google Scholar 

  • Devi AR, Naushad SM (2004) Newborn screening in India. Indian Journal of Pediatrics 71: 157–160.

    Google Scholar 

  • Dussault JH, Laberge C (1973) Thyroxine (T4) determination in dried blood by radioimmunoassay: a screening method for neonatal hypothyroidism. Union Med Can 102: 2062–2064.

    PubMed  CAS  Google Scholar 

  • Dussault JH, Coulomb P, Laberge C, Letarte J, Guyda H, Khoury K (1975) Preliminary report on a mass screening program for neonatal hypothyroidism. J Pediatr 86: 670–674.

    Article  PubMed  CAS  Google Scholar 

  • Erdenechimeg S (2003) National newborn hypothyroid screening program in Mongolia. Southeast Asia J Trop Med Pub Health 34(Supplement 3): 85–86.

    Google Scholar 

  • Fujieda K, Matsuura N, Takasugi N, Fukushi M, Arai O, Mizushima Y (1987) Five years experience of newborn screening program for congenital adrenal hyperplasia in Sapporo. In: Therrell BL, ed. Advances in Neonatal Screening. Amsterdam: Elsevier Science Publishers, 281–286.

    Google Scholar 

  • Fujimoto A, Ohtake H, Miyagi T, et al (1987) Blood spot enzyme multiple auxotroph screening for urea-cycle disorders in Osaka. In: Therrell BL, ed. Advances in Neonatal Screening. Amsterdam: Elsevier Science Publishers, 215–216.

    Google Scholar 

  • Gu XF, Jun Y, Chen R-G (1999) Neonatal screening of phenylketonuria and congenital hypothyroidism in China. Southeast Asia J Trop Med Pub Health 30(Supplement 2): 17–19.

    Google Scholar 

  • Guthrie R (1962) Screening for ‘inborn errors of metabolism’ in the newborn infant—a multiple test program. Birth Defects Original Article Series IV: 92–98.

    Google Scholar 

  • Guthrie R (1992) The origin of newborn screening. Screening 1: 5–15.

    Article  PubMed  CAS  Google Scholar 

  • Guthrie R, Susi A (1963) A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 32: 338–343.

    PubMed  CAS  Google Scholar 

  • Han YJ, Lee D-H, Jong WK (2003) Newborn screening in Korea. Southeast Asia J Trop Med Pub Health 34(Supplement 3): 81–84.

    Google Scholar 

  • Hasan M, Nahar N, Ahmed A, Moslem F (2003) Screening for congenital hypothyroidism—a new era in Bangladesh. Southeast Asia J Trop Med Pub Health 34(Supplement 3): 162–164.

    Google Scholar 

  • Hau W, Lam TS (2004) 20 years experience in neonatal screening in Hong Kong. Abstracts 5th Asia Pacific Regional Meeting of the International Society for Neonatal Screening, 14–17 September 2004, Shanghai, China, 31.

  • Houston IB, Veale AMO (1971) Screening for inborn errors of metabolism. Lab Manag 9: 30–32, 53.

    Google Scholar 

  • Hsiao K-J, Chiang SH, Chang TT, Liew DG, Chao YY (1991) Experience of neonatal G6PD deficiency screening in Taiwan. In: Wilcken B, Webster D eds. Neonatal Screening in the Nineties. Leura, NSW: The Kelvin Press, 217–218.

    Google Scholar 

  • Huang HP, Chu KL, Chien YH, et al (2006) Tandem mass neonatal screening in Taiwan—report from one center. J Formos Med Assoc 105: 882–886.

    Article  PubMed  CAS  Google Scholar 

  • Hwu WL, Huang AC, Chen JS, Hsiao KJ, Tsai W-Y (2003) Neonatal screening and monitoring system in Taiwan. Southeast Asia J Trop Med Pub Health 34(Supplement 3): 91–3.

    Google Scholar 

  • IAEA Report of East Asia Project Coordination and Planning Management Meeting (2002) Workshop on Congenital Hypothyroidism: Quality Assurance and Validation (RAS6032), Tianjin, China. Vienna: International Atomic Energy Agency, 10–12.

    Google Scholar 

  • Irie M, Naruse H (1980) Mass screening for neonatal hypothyroidism in Japan. In: Bickle H, Guthrie R, Hammersen G, eds. Neonatal Screening for Inborn Errors of Metabolism. Berlin: Springer-Verlag, 247–251.

    Google Scholar 

  • Irie M, Enomoto K, Naruse H (1975) Measurement of thyroid-stimulating hormone in dried blood spot. Lancet 2: 1233–1234.

    Article  PubMed  CAS  Google Scholar 

  • Irie M, Nakajima H, Inomata H, Naruse H, Suwa S, Takasugi N (1987) Screening of neonatal hypothyroidism in Japan. In: Therrell BL, ed. Advances in Neonatal Screening. Amsterdam: Elsevier Science Publishers, 41–47.

    Google Scholar 

  • Joseph R (2003) Mass newborn screening in Singapore. Southeast Asia J Trop Med Pub Health 34(Supplement 3): 89–90.

    Google Scholar 

  • Joseph R, Ho LY, Gomez JM, Rajdurai VS, Sivasankaran S, Yip YY (1999a) Mass newborn screening for glucose-6-phosphate dehydrogenase deficiency in Singapore. Southeast Asia J Trop Med Pub Health 30(Supplement 2): 70–71.

    Google Scholar 

  • Joseph R, Ho LY, Gomez JM, Rajdurai VS, Sivasankaran S, Yip YY (1999b) Newborn screening in Singapore. Southeast Asia J Trop Med Pub Health 30(Supplement 2): 23–24.

    Google Scholar 

  • Kaur M, Das GP, Verma IC (1994) Inborn errors of aminoacid metabolism in North India. J Inherit Metab Dis 17: 230–233.

    Article  PubMed  CAS  Google Scholar 

  • Kawamura M (1987) Neonatal screening for galactosemia. In: Therrell BL ed. Advances in Neonatal Screening. Amsterdam: Elsevier Science Publishers, 227–230.

    Google Scholar 

  • Koch JH (1997) Robert Guthrie: The PKU Story. Pasadena: Holt Publishing House.

    Google Scholar 

  • Lam STS (1994) The organization of genetic screening programmes in Hong Kong — An overview. In: Takasugi N, Naruse H, eds. New Trends in Neonatal Screening. Sapporo: Hokkaido University Press, 29–31.

  • Lam STS, Cheng ML (2003) Neonatal screening in Hong Kong and Macau. Southeast Asia J Trop Med Pub Health 34(Supplement 3): 73–75.

    Google Scholar 

  • Lee DH (1994) Neonatal screening in Korea. In: Takasugi N, Naruse H eds. New Trends in Neonatal Screening. Sapporo: Hokkaido University Press, 3–5.

    Google Scholar 

  • Lo KK, Lam TS (1995) Neonatal screening programme for congenital hypothyroidism in Hong Kong. In: Lam TS, Pang CP, eds. Neonatal and Perinatal Screening: the Asian Pacific Perspectives. Hong Kong: The Chinese University Press, 145–148.

    Google Scholar 

  • Lo KK, Chan ML, Lo IFM, et al (1995) Neonatal screening for glucose-6-phosphate dehydrogenase deficiency in Hong Kong In: Lam TS, Pang CP, eds. Neonatal and Perinatal Screening: the Asian Pacific Perspectives. Hong Kong: The Chinese University Press, 33–35.

    Google Scholar 

  • Lyon I (1983) Screening for hypothyroidism: the New Zealand experience. In: Naruse H, Irie M, eds. Neonatal Screening. Amsterdam: Elsevier Science Publishers, 111–112.

    Google Scholar 

  • Lyon IC, Crossley JR, Smith PA (1983) Screening for cystic fibrosis. New Zealand Med J 96: 673–675.

    PubMed  CAS  Google Scholar 

  • Matsuda I, Endo Y, Edo F, Akaboshi I (1987) Clinical and biochemical observation of maple syrup urine disease patients found by neonatal screening. In: Therrell BL, ed. Advances in Neonatal Screening. Amsterdam: Elsevier Science Publishers, 217–218.

    Google Scholar 

  • McCabe LL, Therrell BL, McCabe ERB (2002) Newborn screening: rationale for a comprehensive, fully integrated public health system. Mol Genet Metabol 77: 267–273.

    Article  CAS  Google Scholar 

  • Meikle PJ, Grasby DJ, Dean CJ, et al (2006) Newborn screening for lysosomal storage disorders. Mol Genet Metabol 88: 307–314.

    Article  CAS  Google Scholar 

  • Moslem F, Yasmeen S, Hasan M, Karim MA, Nahar N, Ahmed A (2003) Newborn screening in Bangladesh. Southeast Asia J Trop Med Pub Health 34(Supplement 3): 71–72.

    Google Scholar 

  • Naruse H (1980a) System of neonatal screening for inborn errors of metabolism in Japan. In: Bickle H, Guthrie R, Hammersen G, eds. Neonatal Screening for Inborn Errors of Metabolism. Berlin: Springer, 299–305.

    Google Scholar 

  • Naruse H (1980b) Neonatal thyroid screening as part of a multiple genetic screening program in Japan. In: Burrow GN, Dussault JH, eds. Neonatal Thyroid Screening. New York: Raven Press, 133–137.

    Google Scholar 

  • Naruse H, Tsuji A, Suzuku E, et al (2003) Quality control system for mass screening in Japan. Southeast Asia J Trop Med Pub Health 34(Supplement 3): 30–35.

    Google Scholar 

  • Nozue G, Moriyama Y, Gomibuchi M, et al (1983) Propagation and results of a neonatal screening program concerning inborn errors of metabolism in Japan In: Naruse H, Irie M, eds. Neonatal Screening. Amsterdam: Elsevier Science Publishers, 477–480.

    Google Scholar 

  • Padilla C (2003) Newborn screening in the Philippines. Southeast Asia J Trop Med Pub Health 34(Supplement 3): 87–88.

    Google Scholar 

  • Padilla C, Domingo C for the Newborn Screening Study Group (2002) Implementation of newborn screening in the Philippines. Philippine J Pediatr 51: 2–10.

    Google Scholar 

  • Pass KA, Lane PA, Fernhoff PM, et al (2000) U.S. Newborn Screening system guidelines II: follow-up of children, diagnosis, management and evaluation—statement of the Council of Regional Networks for Genetics Services (CORN). J Pediatr 137: S1–S46.

    Article  PubMed  CAS  Google Scholar 

  • Rao NA, Devi AR, Savithri HS, Rao SV, Bittles AH (1988) Neonatal screening for amino acidaemias in Karnataka, South India. Clin Genet 34: 60–63.

    Article  PubMed  CAS  Google Scholar 

  • Robinson MJ, Lau KS, Lin HP, Chan GL (1976) Screening for G6PD Deficiency. Med J Malaysia 30: 287–290.

    PubMed  CAS  Google Scholar 

  • Rustama DS, Fadil MR, Harahap ER, Primadi A (2003) Newborn screening in Indonesia. Southeast Asia J Trop Med Pub Health 34(Supplement 3): 76–79.

    Google Scholar 

  • Singh A (2003) Malaysia country report—newborn screening. IAEA 2003 RAS 6/32 Project Report, Hanoi, Vietnam.

  • Singh H (1986) Glucose-6-phosphate dehydrogenase deficiency: a preventable cause of mental retardation. Br Med J 292: 397–398.

    CAS  Google Scholar 

  • Suzuki K, Tochizawa K, Suzuki R, Owada M, Sakayam T, Kitagawa T (1983). A trial of the screening for urea cycle disorders. In: Naruse H, Irie M, eds Neonatal Screening. Amsterdam: Elsevier Science Publishers, 372–373.

    Google Scholar 

  • Suwa S, Shimozawa K, Kitagawa T, et al (1987) Collaborative study on regional neonatal screening for congenital adrenal hyperplasia in Japan. In: Therrell BL, ed. Advances in Neonatal Screening. Amsterdam: Elsevier Science Publishers, 279–280.

    Google Scholar 

  • Szeinberg A (1971) Neonatal screening for phenylketonuria and some other metabolic disorders. In: Cohen BE, Rubin MI, Szeinberg A, eds. Proceedings of the International Symposium on Phenylketonuria and Allied Disorders, Tel Aviv, 15–22 June 1969. Tel Aviv: Translators’ Pool, 47–52.

    Google Scholar 

  • Therrell BL (2001) U.S. newborn screening policy dilemmas for the twenty-first century. Mol Genet Metab 74: 64–74.

    Article  PubMed  CAS  Google Scholar 

  • Therrell BL, Hannon WH (2006) National evaluation of U.S. newborn screening system components. Ment Retard Dev Disabil Res Rev 12: 236–245.

    Article  PubMed  Google Scholar 

  • Therrell BL, Padilla CD (2005) Screening of Newborns for Congenital Hypothyroidism Guidance for Developing Programmes. Vienna: International Atomic Energy Agency, 15.

    Google Scholar 

  • Therrell BL, Panny SR, Davidson A, et al (1992) U.S. newborn screening system guidelines: statement of the Council of Regional Networks for Genetic Services (CORN). Screening 1: 135–147.

    Article  Google Scholar 

  • UNICEF (2007) State of the world’s children 2007. New York: Gist and Herlin Press. (Available at: http://www.unicef.org/sowc07/docs/sowc07.pdf).

    Google Scholar 

  • Veale AMO, Houston IB (1976) Administration and organization of the New Zealand screening program. In: Rubin MI, Jeljaszewicz J, Cabalska B, eds. Proceedings of the International Symposium on Laboratory Screening Techniques for Inborn Errors of metabolism in Newborn and Selected High-Risk Infants, Warsaw, Poland, 3–6 September 1972. Warsaw: National Center for Scientific, Technical and Economic Information, 221–224.

    Google Scholar 

  • Veale AMO, Houston IB (1978) Mass screening for inborn errors of metabolism. Patient Manag 20–24.

  • Wang W, Chen X, Zang J, He Y Zhang P, Shen F (2003) Development of a newborn screening laboratory quality assurance system in Shandong, China. Southeast Asia J Trop Med Pub Health 34(Supplement 3): 36–38.

    CAS  Google Scholar 

  • Webster D (1991) Why blind quality assurance—the HGSA QAP. In: Wilcken B, Webster D, eds. Neonatal Screening in the Nineties. Leura, NSW: The Kelvin Press, 278–279.

    Google Scholar 

  • Wijekoon A, Nanayakkara D, Jiffry N, et al (2006) Towards neonatal screening for congenital hypothyroidsm in Sri Lanka: a pilot project. In: Book of Abstracts, International Society for Neonatal Screening Convention, Awaji, Japan, 16–18 September 2006, 108.

  • Wilcken B (1999) Neonatal screening in Australia. Southeast Asia J Trop Med Pub Health 30(Supplement 2): 41–42.

    Google Scholar 

  • Wilcken B, Brown A (1987) Screening for cystic fibrosis in the New South Wales, Australia: evaluation of the results of screening 400 000 babies. In: Therrell BL, ed. Advances in Neonatal Screening. Amsterdam: Elsevier Science Publishers, 385–390.

    Google Scholar 

  • Wilcken B, Chalmers G (1985) Reduced morbidity in patients with cystic fibrosis detected by neonatal screening. Lancet 2: 1319–1321.

    Google Scholar 

  • Wilcken B, Gaskin K (2007) More evidence to favour newborn screening for cystic fibrosis. Lancet 369: 1146–1147.

    Article  PubMed  Google Scholar 

  • Wilcken B, Smith A, Brown DA (1980) Urine screening for aminoacidopathies: is it beneficial? Results of a long-term follow-up of cases detected by screening one millon babies. J Pediatr 97: 492–497.

    Article  PubMed  CAS  Google Scholar 

  • Wilcken B, Wiley V, Sherry G, Bayliss U (1995) Neonatal screening for cystic fibrosis: a comparison of two strategies for case detection in 1.2 million babies. J Pediatr 127: 965–970.

    Article  PubMed  CAS  Google Scholar 

  • Wilcken B, Wiley V, Hammond J, Carpenter K (2003) Screening newborns for inborn errors of metabolism by tandem mass spectrometry. N Engl J Med 348: 2304–2312.

    Article  PubMed  CAS  Google Scholar 

  • Wilcken B, Haas M, Joy P, et al (2007) Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study. Lancet 369: 37–42.

    Article  PubMed  CAS  Google Scholar 

  • Wiley V, Carpenter K, Wilcken B (1999) Newborn screening with tandem mass spectrometry: 12 months’ experience in NSW Australia. Acta Pædiatr Suppl 432: 48–51.

    Article  Google Scholar 

  • Wong HB (1965) Singapore kernicterus—the position in 1965. J Singapore Paediatr Soc 7: 35–43.

    Google Scholar 

  • Wong HB (1975) A surveillance system to prevent kernicterus in Singapore infants. J Singapore Paediatr Soc 17: 1–9.

    Google Scholar 

  • Xi YS (1994) Newborn screening in Beijing China. In: Takasugi N, Naruse H, eds. New Trends in Neonatal Screening. Hokkaido University Press, Sapporo 19–21.

    Google Scholar 

  • Yamaguchi A, Fukushi M, Mizushima Y, Sato Y, Takasugi N (1987) A simple method for quantification of biotinidase activity in dried blood spot and its application to screening for biotinidase deficiency. In: Therrell BL, ed. Advances in Neonatal Screening. Amsterdam: Elsevier Science Publishers, 319–321.

    Google Scholar 

  • Yeo PP, Joseph R, Chng KP, et al (1983). Screening programme for congenital hypothyroidism in Singapore. In: Naruse H, Irie M, eds. Neonatal Screening. Amsterdam: Elsevier Science Publishers, 113–114.

    Google Scholar 

  • Ying D, Chen R, Shen Y, et al (1996). Neonatal screening in mainland China: current status and future plans and proposals. In: Lam S, Pang C, eds. Neonatal and Perinatal Screening. Hong Kong: The Chinese University Press, 21–23.

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Carmencita D. Padilla.

Additional information

Communicating editor: Georg Hoffmann

Competing interests: None declared

Rights and permissions

Reprints and permissions

About this article

Cite this article

Padilla, C.D., Therrell, B.L. Newborn screening in the Asia Pacific region. J Inherit Metab Dis 30, 490–506 (2007). https://doi.org/10.1007/s10545-007-0687-7

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10545-007-0687-7

Keywords

Navigation