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Cost-effectiveness of cell-free DNA in maternal blood testing for prenatal detection of trisomy 21, 18 and 13: a systematic review

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Abstract

The aim of this paper was to conduct a systematic review of the cost-effectiveness of the analysis of cell-free DNA in maternal blood, often called the non-invasive prenatal test (NIPT), in the prenatal screening of trisomy in chromosomes 21, 18 and 13. MEDLINE, MEDLINE in process, EMBASE, and Cochrane Library were searched in April 2017. We selected: (1) economic evaluations that estimated the costs and detected cases of trisomy 21, 18 or 13; (2) comparisons of prenatal screening with NIPT (universal or contingent strategies) and the usual screening without NIPT, (3) in pregnant women with any risk of foetal anomalies. Studies were reviewed by two researchers. Data were extracted, the methodological quality was assessed and a narrative synthesis was prepared. In total, 12 studies were included, four of them performed in Europe. Three studies evaluated NIPT as a contingent test, three studies evaluated a universal NIPT, and six studies evaluated both. The results are heterogeneous, especially for the contingent NIPT where the results range from NIPT being dominant to a dominated strategy. Universal NIPT was found to be more effective but also costlier than the usual screening, with very high incremental cost-effectiveness ratios. One advantage of screening with NIPT is lower invasive procedure-related foetal losses than with usual screening. In conclusion, the cost-effectiveness of contingent NIPT is uncertain according to several studies, while the universal NIPT is not cost-effective currently.

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Acknowledgements

The authors would like to thank Laura Vallejo, Cristina Valcárcel, Sergio Márquez and Alberto Plaja. The authors would also like to thank Jason Willis-Lee for copyediting support. This work was partly funded by Ministerio de Sanidad, Servicios Sociales e Igualdad, Spain.

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Authors and Affiliations

  1. Servicio de Evaluación, Servicio Canario de la Salud, Camino Candelaria Nº 44, 1ª planta, El Rosario, 38109, Santa Cruz De Tenerife, Canary Islands, Spain

    Lidia García-Pérez, Renata Linertová & Pedro Serrano-Aguilar

  2. Fundación Canaria de Investigación Sanitaria (FUNCANIS), Camino Candelaria Nº 44, 1ª planta, El Rosario, 38109, Santa Cruz De Tenerife, Canary Islands, Spain

    Lidia García-Pérez, Renata Linertová & Jorge Ferrer-Rodríguez

  3. Red de Investigación en Servicios de Salud en Enfermedades Crónicas (REDISSEC), Madrid, Spain

    Lidia García-Pérez, Renata Linertová, Iñaki Imaz-Iglesia & Pedro Serrano-Aguilar

  4. Centro de Investigaciones Biomédicas de Canarias (CIBICAN), Universidad de La Laguna, La Laguna, Spain

    Lidia García-Pérez, Renata Linertová & Pedro Serrano-Aguilar

  5. Facultad de Ciencias Económicas y Empresariales, Universidad de La Laguna, Campus de Guajara, Camino de la Hornera s/n, La Laguna, 38071, Santa Cruz De Tenerife, Spain

    Lidia García-Pérez

  6. Obstetrics and Gynecology Department, Hospital Universitario de Canarias (HUC), Universidad de La Laguna (ULL), Carretera de Ofra s/n, La Cuesta, La Laguna, 38320, Santa Cruz De Tenerife, Spain

    Margarita Álvarez-de-la-Rosa

  7. Department of Health, Basque Government, Basque Office for Health Technology Assessment (OSTEBA), Alameda Rekalde Nº 39, 48008, Bilbao, Spain

    Juan Carlos Bayón

  8. Instituto de Salud Carlos III, Monforte de Lemos Nº 5, 28029, Madrid, Spain

    Iñaki Imaz-Iglesia

Authors
  1. Lidia García-Pérez
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  2. Renata Linertová
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  3. Margarita Álvarez-de-la-Rosa
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Correspondence to Lidia García-Pérez.

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García-Pérez, L., Linertová, R., Álvarez-de-la-Rosa, M. et al. Cost-effectiveness of cell-free DNA in maternal blood testing for prenatal detection of trisomy 21, 18 and 13: a systematic review. Eur J Health Econ 19, 979–991 (2018). https://doi.org/10.1007/s10198-017-0946-y

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  • DOI: https://doi.org/10.1007/s10198-017-0946-y

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