Expansion of non-invasive prenatal screening to the screening of 10 types of chromosomal anomalies: a cost-effectiveness analysis
Objectives To determine the cost-effectiveness of the addition of chromosomal anomalies detectable by non-invasive prenatal screening (NIPS), in a prenatal screening programme targeting common aneuploidies.Design, setting and participants A simulation study was conducted to study the addition of chr...
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| Format: | Article |
| Language: | English |
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BMJ Publishing Group
2023-08-01
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| Series: | BMJ Open |
| Online Access: | https://bmjopen.bmj.com/content/13/8/e069485.full |
| _version_ | 1797728980020756480 |
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| author | Julian Little François Audibert Sylvie Langlois François Rousseau Daniel Reinharz Bounhome Soukkhaphone Mohammad Baradaran Ba Diep Nguyen Leon Nshimyumukiza |
| author_facet | Julian Little François Audibert Sylvie Langlois François Rousseau Daniel Reinharz Bounhome Soukkhaphone Mohammad Baradaran Ba Diep Nguyen Leon Nshimyumukiza |
| author_sort | Julian Little |
| collection | DOAJ |
| description | Objectives To determine the cost-effectiveness of the addition of chromosomal anomalies detectable by non-invasive prenatal screening (NIPS), in a prenatal screening programme targeting common aneuploidies.Design, setting and participants A simulation study was conducted to study the addition of chromosomal anomalies detectable by NIPS (sex chromosome aneuploidies, 22q11.2 deletion syndrome, large deletion/duplication >7 Mb and rare autosomal trisomies) to five basic strategies currently aiming the common trisomies: three strategies currently offered by the public healthcare systems in Canada, whose first-tier test is performed with biochemical markers, and two programmes whose first-tier test consists of NIPS-based methods.Outcome measures The total number of cases of chromosomal anomalies detected and the costs related to the consumption of medical services.Results The most effective and the most cost-effective option in almost all prenatal screening strategies is the option that includes all targeted additional conditions. In the strategies where NIPS is used as first-tier testing, the cost per additional case detected by adding all possible additional anomalies to a programme that currently targets only common trisomies is $C25 710 (95% CI $C25 489 to $C25 934) for massively parallel shotgun sequencing and $C57 711 (95% CI $C57 141 to $C58 292) for targeted massively parallel sequencing, respectively. The acceptability curves show that at a willingness-to-pay of $C50 000 per one additional case detected, the expansion of NIPS-based methods for the detection of all possible additional conditions has a 90% probability of being cost-effective.Conclusion From an economic perspective, in strategies that use NIPS as a first-tier screening test, expanding the programmes to detect any considered chromosomal anomalies other than the three common trisomies would be cost-effective. However, the potential expansion of prenatal screening programmes also requires consideration of societal issues, including ethical ones. |
| first_indexed | 2024-03-12T11:22:09Z |
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| id | doaj.art-a74c8674828746edba25d19c081f4329 |
| institution | Directory Open Access Journal |
| issn | 2044-6055 |
| language | English |
| last_indexed | 2024-03-12T11:22:09Z |
| publishDate | 2023-08-01 |
| publisher | BMJ Publishing Group |
| record_format | Article |
| series | BMJ Open |
| spelling | doaj.art-a74c8674828746edba25d19c081f43292023-09-01T17:55:06ZengBMJ Publishing GroupBMJ Open2044-60552023-08-0113810.1136/bmjopen-2022-069485Expansion of non-invasive prenatal screening to the screening of 10 types of chromosomal anomalies: a cost-effectiveness analysisJulian Little0François Audibert1Sylvie Langlois2François Rousseau3Daniel Reinharz4Bounhome Soukkhaphone5Mohammad Baradaran6Ba Diep Nguyen7Leon Nshimyumukiza8Clinical Epidemiology, Ottawa Hospital Research Institute, Ottawa, Ontario, Canada5 Department of Obstetrics and Gynecology, Centre Hospitalier Universitaire Sainte-Justine, Université de Montréal, Montreal, Quebec, CanadaDepartment of Medical Genetics, University of British Columbia, Vancouver, British Columbia, CanadaCentre de Recherche du Centre Hospitalier Universitaire de Québec (CRCHUQ), Faculté de Médecine, Université Laval, Québec, Qc, CanadaprofessorLaval University, Quebec City, Quebec, CanadaLaval University, Quebec City, Quebec, CanadaLaval University, Quebec City, Quebec, CanadaLaval University, Quebec City, Quebec, CanadaObjectives To determine the cost-effectiveness of the addition of chromosomal anomalies detectable by non-invasive prenatal screening (NIPS), in a prenatal screening programme targeting common aneuploidies.Design, setting and participants A simulation study was conducted to study the addition of chromosomal anomalies detectable by NIPS (sex chromosome aneuploidies, 22q11.2 deletion syndrome, large deletion/duplication >7 Mb and rare autosomal trisomies) to five basic strategies currently aiming the common trisomies: three strategies currently offered by the public healthcare systems in Canada, whose first-tier test is performed with biochemical markers, and two programmes whose first-tier test consists of NIPS-based methods.Outcome measures The total number of cases of chromosomal anomalies detected and the costs related to the consumption of medical services.Results The most effective and the most cost-effective option in almost all prenatal screening strategies is the option that includes all targeted additional conditions. In the strategies where NIPS is used as first-tier testing, the cost per additional case detected by adding all possible additional anomalies to a programme that currently targets only common trisomies is $C25 710 (95% CI $C25 489 to $C25 934) for massively parallel shotgun sequencing and $C57 711 (95% CI $C57 141 to $C58 292) for targeted massively parallel sequencing, respectively. The acceptability curves show that at a willingness-to-pay of $C50 000 per one additional case detected, the expansion of NIPS-based methods for the detection of all possible additional conditions has a 90% probability of being cost-effective.Conclusion From an economic perspective, in strategies that use NIPS as a first-tier screening test, expanding the programmes to detect any considered chromosomal anomalies other than the three common trisomies would be cost-effective. However, the potential expansion of prenatal screening programmes also requires consideration of societal issues, including ethical ones.https://bmjopen.bmj.com/content/13/8/e069485.full |
| spellingShingle | Julian Little François Audibert Sylvie Langlois François Rousseau Daniel Reinharz Bounhome Soukkhaphone Mohammad Baradaran Ba Diep Nguyen Leon Nshimyumukiza Expansion of non-invasive prenatal screening to the screening of 10 types of chromosomal anomalies: a cost-effectiveness analysis BMJ Open |
| title | Expansion of non-invasive prenatal screening to the screening of 10 types of chromosomal anomalies: a cost-effectiveness analysis |
| title_full | Expansion of non-invasive prenatal screening to the screening of 10 types of chromosomal anomalies: a cost-effectiveness analysis |
| title_fullStr | Expansion of non-invasive prenatal screening to the screening of 10 types of chromosomal anomalies: a cost-effectiveness analysis |
| title_full_unstemmed | Expansion of non-invasive prenatal screening to the screening of 10 types of chromosomal anomalies: a cost-effectiveness analysis |
| title_short | Expansion of non-invasive prenatal screening to the screening of 10 types of chromosomal anomalies: a cost-effectiveness analysis |
| title_sort | expansion of non invasive prenatal screening to the screening of 10 types of chromosomal anomalies a cost effectiveness analysis |
| url | https://bmjopen.bmj.com/content/13/8/e069485.full |
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