Consolidated Newborn Bloodspot Screening Efforts in Developing Countries in the Asia Pacific-2024

Overview

Journal Int J Neonatal Screen

Date 2025 Jan 23

PMID 39846588

Authors

Bradford L Therrell

Carmencita D Padilla

Michelle E Abadingo

Shree Prasad Adhikari

Thuza Aung

Thet Thet Aye

Sanjoy Kumer Dey

Muhammad Faizi

Erdenetuya Ganbaatar

Tran Thi Huong Giang

Hoang Thu Hang

Rathmony Heng

Seema Kapoor

Khurelbaatar Nyamdavaa

Prajwal Paudel

Kimyi Phou

Aman B Pulungan

Chittaphone Sayyavong

Salimah R Walani

Tariq Zafar

Affiliations

Soon will be listed here.

Abstract

Approximately half of all births globally occur in the Asia Pacific Region. Concerted efforts to support local activities aimed at developing national newborn screening (NBS) have been ongoing for almost 30 years, first by the International Atomic Energy Agency (IAEA) and then through volunteer efforts. Sustainable newborn bloodspot screening (NBS) continues to be initiated and develop in many of the countries with developing economies in the region. Since the discontinuation of IAEA funding in 2007, a working group of the Asia Pacific Society of Human Genetics (APSHG) consisting of interested representatives from countries in the region with less than 50% NBS coverage has participated in periodic workshops to exchange information, set goals, and provide peer support. Facilitated by international NBS experts, interested corporate sponsors, and the APSHG, the 7th workshop of representatives from 10 East Asian countries with developing NBS systems was recently held in Kathmandu, Nepal. This report summarizes the NBS activities in these countries and describes the continuing efforts to move NBS ahead in the region.

References

Cavan B, de Castro-Hamoy L, Abarquez C, Maceda E, Alcausin M . Clinical, Biochemical, and Molecular Characteristics of Filipino Patients with Tyrosinemia Type 1. Int J Neonatal Screen. 2024; 10(3). PMC: 11417744. DOI: 10.3390/ijns10030059. View

Lakhani M, Khurshid M, Naqvi S, Akber M . Neonatal screening for congenital hypothyroidism in Pakistan. J Pak Med Assoc. 1989; 39(11):282-4. View

Bancone G, Gilder M, Win E, Gornsawun G, Penpitchaporn P, Moo P . Technical evaluation and usability of a quantitative G6PD POC test in cord blood: a mixed-methods study in a low-resource setting. BMJ Open. 2022; 12(12):e066529. PMC: 9748916. DOI: 10.1136/bmjopen-2022-066529. View

Miller F . The complex promise of newborn screening. Indian J Med Ethics. 2009; 6(3):142-8. DOI: 10.20529/IJME.2009.046. View

Desai M, Vishwanath T, SHETH A, Raikar R . Neonatal screening for hypothyroidism--a review experience with thyrotropin estimation in the newborn. Indian Pediatr. 1978; 15(6):463-7. View

Mansoor S . Trends of congenital hypothyroidism and inborn errors of metabolism in Pakistan. Orphanet J Rare Dis. 2020; 15(1):321. PMC: 7666465. DOI: 10.1186/s13023-020-01602-6. View

Padilla C, Therrell Jr B . Consolidating newborn screening efforts in the Asia Pacific region : Networking and shared education. J Community Genet. 2012; 3(1):35-45. PMC: 3266966. DOI: 10.1007/s12687-011-0076-7. View

Almonte C, Ellong M, Macrohon B . A Case Report of the First Filipino Infant Diagnosed with Cystic Fibrosis through the Philippine Newborn Screening Program. Acta Med Philipp. 2024; 58(6):69-73. PMC: 11151128. DOI: 10.47895/amp.vi0.7570. View

Wasim M, Khan H, Ayesha H, Tawab A, Habib F, Asi M . High levels of blood glutamic acid and ornithine in children with intellectual disability. Int J Dev Disabil. 2022; 68(5):609-614. PMC: 9542416. DOI: 10.1080/20473869.2020.1858520. View

10.

Solanki K . Training programmes for developing countries. J Inherit Metab Dis. 2007; 30(4):596-9. DOI: 10.1007/s10545-007-0680-1. View

11.

Raveendran A, Chacko T, Prabhu P, Varma R, Lewis L, Rao P . Need and Viability of Newborn Screening Programme in India: Report from a Pilot Study. Int J Neonatal Screen. 2022; 8(2). PMC: 9036214. DOI: 10.3390/ijns8020026. View

12.

Bibi A, Haroon Z, Shujaat A, Aamir M, Irum S, Jaffar S . Establishing biotinidase reference interval: A foundation stone for newborn screening of biotinidase deficiency in Pakistan. J Pak Med Assoc. 2022; 72(1):97-100. DOI: 10.47391/JPMA.2167. View

13.

Bin S, Phou K, Im S . Primary congenital hypothyroidism: challenges in a low-income country without paediatric endocrinologist and universal newborn screening. BMJ Case Rep. 2023; 16(5). PMC: 10163418. DOI: 10.1136/bcr-2022-249997. View

14.

Kanani F, Shahid S, Sameer D, Maqsood S . Selective screening for inherited metabolic disorders in a tertiary care hospital of Karachi - A retrospective chart review. Pak J Med Sci. 2024; 40(2ICON Suppl):S80-S84. PMC: 10844909. DOI: 10.12669/pjms.40.2(ICON).8985. View

15.

Wasim M, Khan H, Ayesha H, Awan F . Need and Challenges in Establishing Newborn Screening Programs for Inherited Metabolic Disorders in Developing Countries. Adv Biol (Weinh). 2023; 7(7):e2200318. DOI: 10.1002/adbi.202200318. View

16.

Kapoor S . Newborn screening- the roadmap for India. Mol Cytogenet. 2014; 7:I41. PMC: 4043451. DOI: 10.1186/1755-8166-7-S1-I41. View

17.

Erdenechimeg S . National neonatal hypothyroid screening program in Mongolia. Southeast Asian J Trop Med Public Health. 2005; 34 Suppl 3:85-6. View

18.

Padilla C, Therrell B . Newborn screening in the Asia Pacific region. J Inherit Metab Dis. 2007; 30(4):490-506. DOI: 10.1007/s10545-007-0687-7. View

19.

Vesaphong P, Lindemuth L, Istaz B, Kedsatha P, Saysanasongkham B, Hoehn T . Establishment of a sustainable newborn TSH-screening program in the People's Democratic Republic of Laos. Early Hum Dev. 2021; 154:105306. DOI: 10.1016/j.earlhumdev.2021.105306. View

20.

Pandey A . Metabolic disease in Nepal: a perspective. Kathmandu Univ Med J (KUMJ). 2012; 8(31):333-40. DOI: 10.3126/kumj.v8i3.6224. View