[Clinical effectiveness of neonatal screening for inborn errors of metabolism using tandem mass spectrometry. Systematic Review]

Paz Valinas L, Atienza Merino G
Record ID 32008100178
Authors' objectives:

To analyze the state of current knowledge concerning the efficacy/effectiveness of neonatal screening of hereditary metabolic diseases, using tandem mass spectrometry; and to compare the neonatal screening services offered in Spain’s various Autonomous Regions (ARs).

Authors' recommendations: The quality and heterogeneity of existing studies on MS/MS-based detection of inborn errors of metabolism render comparison difficult and prevent definitive and categorical conclusions being reached on the different aspects assessed.Taking the above into account, it can be concluded that MS/MS has a potential for the simultaneous detection of a wide range of inborn errors of metabolism, and that it is both a rapid and a highly sensitive and specific technology for detection of MCAD deficiency and phenylketonuria, with these being the best candidates for inclusion in a MS/MS-expanded screening program. Doubts exist as to glutaric acidemia type I and tyrosinemia type I, and there is no evidence that would support the inclusion of the remaining inborn errors.Aside from technological considerations, however, any decision to include a given disorder in a neonatal screening program must be based on screening's ability to bring about a favorable alteration in prognosis following early disease detection and intervention.Additional studies are called for to ascertain the sensitivity and specificity of tandem mass spectrometry in the detection of other IEM, by assessing the long-term effectiveness of diagnostic strategies and conventional treatment, and the potential impact of early diagnosis using MS/MS.As a priority, it is necessary to draw a portfolio of services within the context of early detection of inborn errors of metabolism, based on systematic assessment of their effectiveness and social efficiency; and, that different aspects of the screening programs currently existing in Spain must be standardized, by defining common criteria with respect to outcome variables, quality control indices, specimen storage, and incorporation of new disorders into screening.It is considered advisable to establish a case registry to enable active and regular follow-up of patients with confirmed diagnosis of inborn errors of metabolism, which, for health-care, teaching and research purposes, would then pool all information on incidence, trends, survival and other aspects linked to neonatal screening of metabolic diseases.
Project Status: Completed
Year Published: 2007
English language abstract: An English language summary is available
Publication Type: Not Assigned
Country: Spain
MeSH Terms
  • Humans
  • Infant, Newborn
  • Neonatal Screening
  • Tandem Mass Spectrometry
Organisation Name: Scientific Advice Unit, avalia-t; The Galician Health Knowledge Agency (ACIS)
Contact Address: Conselleria de Sanidade, Xunta de Galicia, San Lazaro s/n 15781 Santiago de Compostela, Spain. Tel: 34 981 541831; Fax: 34 981 542854;
Contact Name: avalia-t@sergas.es
Contact Email: avalia-t@sergas.es
Copyright: Galician Agency for Health Technology Assessment (AVALIA-T)
This is a bibliographic record of a published health technology assessment from a member of INAHTA or other HTA producer. No evaluation of the quality of this assessment has been made for the HTA database.