Newborn screening for medium chain acyl~CoA cehydrogenase deficiency using tandem mass spectrometry: clinical and cost-effectiveness

Tran K, Banerjee S, Li H, Noorani H, Mensinkai S, Dooley K
Record ID 32006000217
English, French
Authors' objectives:

The object of this report was to review the use of tandem mass spectrometry (MS/MS) in newborn screening for medium chain acyl~CoA dehydrogenase (MCADD) as opposed to clinical diagnosis.

Authors' results and conclusions: The clinical sensitivity and specificity of MS/MS-based screening for MCADD were very high. The economic review and analysis showed that screening results in more quality-adjusted life-years (QALY), and lower morbidity and mortality compared with no screening.
Authors' recommendations: Despite limitations in the quality of the identified studies, the benefits of MS/MS screening for MCADD in newborns are greater than those of no screening. MCADD can be a fatal disease, but it is preventable if it is detected pre-symptomatically. There is limited evidence of clinical follow-up or of concomitant comparison of outcomes between newborn screening and clinical diagnosis. Our economic review and our primary economic analysis show that MS/MS-based screening for MCADD consumes more resources, but results in better health outcomes when compared to no screening. In both of the studies included in the economic review, screening was found to be cost-effective if willingness to pay is $50,000 per QALY. Our primary economic analysis, which was based on Canadian data so as to better reflect the Canadian setting, found screening to be cost-effective if willingness to pay is $20,000 per QALY. Not all parents may want their newborns screened for MCADD, but they should be informed about the risks and given the option to refuse.
Authors' methods: Overview
Details
Project Status: Completed
URL for project: https://www.ccohta.ca/
Year Published: 2006
English language abstract: An English language summary is available
Publication Type: Not Assigned
Country: Canada
MeSH Terms
  • Acyl-CoA Dehydrogenase
  • Mass Spectrometry
  • Neonatal Screening
Contact
Organisation Name: Canadian Coordinating Office for Health Technology Assessment
Contact Address: 600-865 Carling Avenue, Ottawa, ON K1S 5S8 Canada. Tel: +1 613 226 2553, Fax: +1 613 226 5392;
Contact Name: requests@cadth.ca
Contact Email: requests@cadth.ca
Copyright: Canadian Coordinating Office for Health Technology Assessment (CCOHTA)
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.