Newborn screening in Latin America at the beginning of the 21st century

Abstract

Newborn screening (NBS) in Latin America took its first steps in the mid-1970s. Nevertheless, many years elapsed before it achieved its integration within the public health care system and its systematic and continuous implementation under a programme structure. Latin American countries can be characterized not only by their great geographic, demographic, ethnic, economic and health system diversity, but also by their heterogeneity in NBS activities, which gives rise to variation in degree of organization: countries with optimal fulfilment (Cuba, Costa Rica, Chile, Uruguay); others rapidly expanding their coverage (Brazil, Mexico, Argentina); some others in a recent implementation phase (Colombia, Paraguay, Venezuela, Nicaragua, Peru); others with minimal, isolated and non-organized activities (Guatemala, Dominican Republic, Bolivia, Panama, Ecuador); and finally others without any NBS activities at all (El Salvador, Honduras, Haiti). Despite this disparity, a sustained and significant growth in NBS activities has become evident during the last decade, highlighted by implementation of new programmes, increase in coverage, expansion of NBS panels, increasing involvement of governmental and public health authorities, and integration of NBS teams through scientific societies and External Quality Assurance Schemes. Currently, congenital hypothyroidism (CH) is the most widely screened disease, followed by phenylketonuria, with organized NBS programmes for CH in 14 countries. Other diseases usually included in NBS programmes are screened in a lower rate. Every year, around 11.2 million infants are born in Latin America. During 2005, 49.3% of newborns were screened for CH, indicating that around 5.7 million newborns still did not have access to the benefits of NBS.

Phenylketonuria, congenital hypothyroidism and haemoglobinopathies: public health issues for a Brazilian newborn screening program

“…Even in Ribeirão Preto 18 , where the NBSP uses the same method and cut-off level as NSRC A, incidence was 1:2,595. Frequency has been increasing over recent years in many countries due to genetic, environmental and socio-cultural factors 4,5,23 . Harris & Pass 23 analyzed CH epidemiological behavior in the US over a 25-year-period and observed a continuous and pronounced increase in disease incidence that could be attributed to modifications in diagnostic criteria as well as to environmental factors (iodine intake), ethnic composition and reproductive behavior.…”

“…Detection from NBS blood spots is based on high levels of plasmatic Phe and treatment consists of dietary protein restrictions 3 . PKU occurrence has varied widely in Europe (between 1:3,042 and 1:35,552 newborns in 2004) 4 and Latin America (between 1:12,473 and 1:51,989 in 2005) 5 .…”

“…Early detection and hormone replacement starting no later than two weeks allow normal development 6 . The frequency of occurrences of CH varies widely in Europe (incidence between 1:1,333 and 1:13,886 ARTIGO ARTICLE in 2004) 4 but less in Latin America (incidence between 1:1,667 and 1:3,670 in 2005) 5 .…”

“…NBS allows the introduction of prophylactic measures that reduce the disease's morbidity and mortality. In 2005, the estimated incidence of the disease in Brazil was 1:2,043 newborns (varying from 1:1,196 to 1:39,107 across studies) 5 .…”

Tracking clinical genetic services for newborns identified through newborn dried bloodspot screening in the United States—lessons learned

“…NDBS program development is continuing to expand in developing countries, particularly in the Asia Pacific (Padilla and Therrell 2007;Padilla et al 2010), Middle East and North Africa (Saadallah and Rashed 2007;Krotoski et al 2009), and Latin America (Borrajo 2007), providing early identification of conditions for which timely interventions can help eliminate or reduce associated mortality, morbidity, and disabilities. NDBS systems are generally viewed as having six components that include education, screening, follow-up, diagnosis, treatment/management, and evaluation/continuous quality improvement (Therrell 2001;Pass et al 2000;Therrell et al 1992).…”