Development of neonatal screening in Colombia: Tandem mass spectrometry

Abstract

DOI: 10.1016/j.rcpe.2015.07.006

Background

In Colombia there are laws such as the rare diseases Law 1392 / 2010, and the children and adolescents Law 1098 / 2006, which protect the rights of children in the prevention of disability. A key strategy to achieve this is neonatal population screening.

Objectives

To describe the operational indicators of the neonatal screening program in Colombia for congenital hypothyroidism for the years 2009 to 2014, and to describe the beginning of extended screening by tandem mass spectrometry.

Methods

The information used was obtained from the program for evaluation of screening laboratories performance, the Sistema Nacional de Vigilancia, the Observatorio Nacional de Salud, and vital statistics of the Departmento Administrativo Nacional de Estadística, in order to review the operational indicators for the neonatal screening program in Colombia.

Results

Screening for congenital hypothyroidism has achieved a coverage rate of 80%, but is affected by the low rate of recall, which is less than 50%, leading to coverage being reduced by half, and which is reflected in the low incidence rates. The constraints in implementing an expanded screening program using tandem mass spectrometry are identified, as well as demonstrating the opportunity to identify serious diseases that affect infant mortality.

Conclusions

There is a need to review the current screening model, taking into account a new model based on centralisation and network nodes for the improvement of recall and coverage, as well as the implementation of expanded screening.