Bradford L Therrell1,2, Carmencita D Padilla3,4. 1. Department of Pediatrics, Division of Genetics and Metabolic Disorders, University of Texas Health Science Center at San Antonio, San Antonio. 2. National Newborn Screening and Global Resource Center, Austin, Texas, USA. 3. Department of Pediatrics, University of the Philippines Manila. 4. Newborn Screening Reference Center, National Institutes of Health, University of the Philippines Manila, Manila, Philippines.
Abstract
PURPOSE OF REVIEW: We review newborn screening (NBS) publications from the developing countries to identify global progress in improving child health. RECENT FINDINGS: Many developing countries do not yet have national NBS. As infant mortality rates decline, NBS gains in public health priority. Local incidence and outcome data are used to persuade health officials to include screening in priority health spending. Congenital hypothyroidism is the most cost-effective screened condition in most countries. In sub-Saharan Africa, India and some parts of Asia, screening for hemoglobinopathies and glucose-6-dehydrogenase deficiency are also important. Expanded screening for metabolic conditions is most needed in areas of high consanguinity. Screening for hearing disorders and critical congenital heart defects is increasing globally. The largest birth cohorts are India and China, but only China has successful NBS. Reports from completed government research projects in India support initiation of NBS. SUMMARY: Government activities around NBS are increasing in India and there is increased emphasis on pilot programs for sickle cell NBS in sub-Saharan Africa. Genetic counseling training in Asia and Africa is increasing and will be helpful as part of NBS. To build successful screening programs, partnerships among health professionals, parents, policy makers and industry stakeholders are essential.
PURPOSE OF REVIEW: We review newborn screening (NBS) publications from the developing countries to identify global progress in improving child health. RECENT FINDINGS: Many developing countries do not yet have national NBS. As infant mortality rates decline, NBS gains in public health priority. Local incidence and outcome data are used to persuade health officials to include screening in priority health spending. Congenital hypothyroidism is the most cost-effective screened condition in most countries. In sub-Saharan Africa, India and some parts of Asia, screening for hemoglobinopathies and glucose-6-dehydrogenase deficiency are also important. Expanded screening for metabolic conditions is most needed in areas of high consanguinity. Screening for hearing disorders and critical congenital heart defects is increasing globally. The largest birth cohorts are India and China, but only China has successful NBS. Reports from completed government research projects in India support initiation of NBS. SUMMARY: Government activities around NBS are increasing in India and there is increased emphasis on pilot programs for sickle cell NBS in sub-Saharan Africa. Genetic counseling training in Asia and Africa is increasing and will be helpful as part of NBS. To build successful screening programs, partnerships among health professionals, parents, policy makers and industry stakeholders are essential.
Authors: Malena Daich Varela; Rene Moya; Patricio G Schlottmann; Robert B Hufnagel; Claudia Arberas; Federico M Fernández; M Eugenia Inga; Juliana Lores; Harry Pachajoa; Carlos E Prada; Juliana M Ferraz Sallum Journal: Am J Med Genet C Semin Med Genet Date: 2020-08-28 Impact factor: 3.359