[Clinical effectiveness of newborn screening for inborn errors of metabolism by MS/MS. Update and assessment regional programs. Methylmalonic acidemias; Propionic acidaemia]
Cantero Muñoz P, Maceria Rozas MC, Pawlowska Pawlowska E, Casal Acción B
Record ID 32018013514
Spanish
Original Title:
Efectividad clínica del cribado neonatal de errores congénitos del metabolismo mediante MS/MS. Actualización y análisis de los programas autonómicos: Acidemias metilmalónicas, Acidemia propiónica
Authors' objectives:
The main objective is updating the previous assessment of the clinical effectiveness of newborn screening for methylmalonic acidaemia (MMA) and propionic acidaemia (PA) using tandem mass spectrometry (MS/MS) compared with the no-screening strategy or standard clinical diagnosis.
Authors' results and conclusions:
The new evidence settled the uncertainties detected in the previous report regarding five screening criteria, showing total compliance, and it was not conclusive in four criteria, in which the previous uncertainties persisted
Authors' methods:
Three research questions were put forward to assess the clinical effectiveness of newborn screening for MMA and PA by MS/MS, and to determine whether these programmes meet the essential requirements of the Spanish National Health System (Sistema Nacional de Salud, SNS) to be included in the Newborn Screening Programme (Programa de Cribado Neonatal, PCN). The questions were presented in the PICOD format (population, intervention, comparator, outcomes and study design) and the inclusion and exclusion criteria of the studies were defined. To answer the questions, a systematic literature review was carried out in different biomedical databases.
The assessment report prepared by the Scientific and Technical Advice Unit (Avalia-t) of the Galician Health Knowledge Agency (Axencia Galega de Coñecemento en Saúde, ACIS) in 2014 was used as starting point. The literature search strategies were updated from May 2013 up to the present (February 2024). Two search strategies were conducted: one focused on the epidemiology of the disease and one focused on screening programmes. Different descriptors and free terms were used, and this was completed with a manual search on metasearch engines and relevant websites. The study selection was carried out by peers in an independent manner, following predefined inclusion and exclusion criteria and using the Covidence tool. Specific scales and instruments were used to assess the validity and risk of bias of the studies, including AGREE II, AMSTAR 2 and QUADAS-2, among others. The GRADE methodology was used to appraise the global quality of evidence.
Details
Project Status:
Completed
URL for project:
https://acis.sergas.es/cartafol/avalia-t22103CribadoMMA-PA?idioma=es
Year Published:
2024
URL for published report:
https://acis.sergas.es/cartafol/avalia-t22103CribadoMMA-PA?idioma=es
English language abstract:
An English language summary is available
Publication Type:
Full HTA
Country:
Spain
MeSH Terms
- Neonatal Screening
- Metabolism, Inborn Errors
- Methylmalonic Acid
- Propionic Acidemia
- Infant, Newborn
- Tandem Mass Spectrometry
- Amino Acid Metabolism, Inborn Errors
Keywords
- Mass screening
- Inborn Errors Metabolism
- National Health Programs
- Methylmalonic Acid
Contact
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:
<p>Galician Agency for Health Technology Assessment (AVALIA-T)</p>
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.