[Screening for rare metabolic disease in newborn infants]

Autti-Ramo I, Laajalahti L, Koskinen H, Sintonen H, Makela M
Record ID 32004000294
English, Finnish, Swedish
Authors' objectives:

In Finland, currently the only metabolic disease that is being screened for in newborns is hypothyreosis from the naval cord blood. Screening for other metabolic disorders requires that the blood sample is taken after the infant's own metabolic processes have started at the age of a few days. Tandem mass spectrometry (MS/MS) is a new method which enables screening for several rare metabolic disorders simultaneously from one blood sample. A proposal to start a pilot study using the MS/MS necessitated an HTA project to resolve what would be the effects of such screening in Finland.

Authors' recommendations: This report aimed at evaluating the effect of newborn screening so that the perspectives and values of individuals, families, health care professionals, society and health policy decision makers are considered. The report offers a basis for a socially just decision about introducing screening for rare metabolic disorders in the newborn.
Authors' methods: Review, Economic evaluation
Details
Project Status: Completed
URL for project: http://finohta.stakes.fi/NR/rdonlyres/A328A3E7-8E06-459B-9837-57E30A9CD883/0/r022f.pdf
Year Published: 2004
English language abstract: An English language summary is available
Publication Type: Not Assigned
Country: Finland
MeSH Terms
  • Costs and Cost Analysis
  • Infant, Newborn
  • Mass Screening
  • Metabolism, Inborn Errors
  • Neonatal Screening
Contact
Organisation Name: Finnish Coordinating Center for Health Technology Assessment
Contact Address: Finnish Office for Health Care Technology Assessment (Finohta)
Contact Name: .
Contact Email: fincchta@ppshp.fi
Copyright: Finnish Office for Health Care Technology Assessment
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.