@article{9aa1c05fb1d5485cb6fe10781860cc04,
title = "Universal newborn screening: A roadmap for action",
abstract = "Newborn screening (NBS) prevents morbidity and mortality by screening babies for selected disorders in the first days of life so that early diagnosis and treatment can be initiated. Congenital disorders impact an estimated 8 million or 6% of annual births worldwide, and of the top five that contribute 25% to the global burden of these disorders, three can be identified and managed by NBS. There are determined pockets of activity in Latin America, Sub-Saharan Africa, and the Asia Pacific region, where partnerships among government, non-governmental organizations, academia, the private sector and civil society are developing novel NBS programs that are both saving lives and preventing disability in those who survive.",
author = "Howson, {C. P.} and B. Cedergren and R. Giugliani and P. Huhtinen and Padilla, {C. D.} and Palubiak, {C. S.} and Santos, {M. D.} and Schwartz, {I. V.D.} and Therrell, {B. L.} and A. Umemoto and J. Wang and X. Zeng and X. Zhao and N. Zhong and McCabe, {E. R.B.}",
note = "Funding Information: NBS has a long history in Asia and the Asia Pacific dating to the mid-1960s. There were many leaders in implementing NBS programs in developed economies such as Japan, Australia, and New Zealand, but many with developing economies are only now organizing screening efforts. Several distinct periods of screening development in the region have been identified. In the 1960s, NBS for PKU began in New Zealand and Australia, followed by Japan and a cord blood screening program for G6PD deficiency in Singapore. In the 1980s, CH screening was added to the existing programs and NBS programs and pilots occurred in China (Shanghai), Hong Kong, India, Malaysia, Pakistan, and Taiwan. In the 1990s, NBS programs developing in the region continued to profit from the experiences of others with the result that more rapid development was possible and sustainable national programs were implemented in Korea, Thailand, and the Philippines, with some initial funding and expert collaboration support from the International Atomic Energy Agency (IAEA). With continuing start-up funding support from the IAEA in the 2000s, NBS for CH started in Bangladesh, Indonesia, Mongolia, Myanmar, Sri Lanka, and Vietnam. Some pilot testing has also occurred in Laos, Cambodia and Nepal but to date their efforts have been limited [ 37 ]. Funding Information: In recent years, a growing number of healthcare professionals in India have called for implementation of a national NBS program [ 18 , 19 , 29 , 56 ]. To assess the need for screening, in 2007 a multicenter pilot study was initiated conducted by the Indian Council of Medical Research. Five laboratories across the country were selected to screen a total of 100,000+ newborns for congenital hypothyroidism and congenital adrenal hyperplasia. It required two years to establish the centers, secure the equipment and train the staff, with the actual sample collection and screening taking place from 2009 to 2012 [ 18 ]. A subsequent study funded by the Department of Science and Technology and conducted in Delhi from 2014 to 2016 screened approximately 200,000 newborns to determine the incidence of more than 30 disorders (B.K. Thelma, Department of Genetics, University of Delhi, New Delhi and S. Kapoor, Division of Genetics, Maulana Azad Medical College, New Delhi, personal communication, 2017). While the results of the latter study has yet to be published during the compilation of this report the magnitude of this pilot study is gaining attention throughout India and globally. Publisher Copyright: {\textcopyright} 2018 Elsevier Inc.",
year = "2018",
month = jul,
doi = "10.1016/j.ymgme.2018.04.009",
language = "English (US)",
volume = "124",
pages = "177--183",
journal = "Biochemical Medicine and Metabolic Biology",
issn = "1096-7192",
publisher = "Academic Press Inc.",
number = "3",
}