| Title: |
Expansion of non-invasive prenatal screening to the screening of 10 types of chromosomal anomalies: a cost-effectiveness analysis |
| Authors: |
Julian Little, François Audibert, Sylvie Langlois, François Rousseau, Daniel Reinharz, Bounhome Soukkhaphone, Mohammad Baradaran, Ba Diep Nguyen, Leon Nshimyumukiza |
| Source: |
BMJ Open, Vol 13, Iss 8 (2023) |
| Publisher Information: |
BMJ Publishing Group, 2023. |
| Publication Year: |
2023 |
| Collection: |
LCC:Medicine |
| Subject Terms: |
Medicine |
| More Details: |
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. |
| Document Type: |
article |
| File Description: |
electronic resource |
| Language: |
English |
| ISSN: |
2044-6055 |
| Relation: |
https://bmjopen.bmj.com/content/13/8/e069485.full; https://doaj.org/toc/2044-6055 |
| DOI: |
10.1136/bmjopen-2022-069485 |
| Access URL: |
https://doaj.org/article/a74c8674828746edba25d19c081f4329 |
| Accession Number: |
edsdoj.74c8674828746edba25d19c081f4329 |
| Database: |
Directory of Open Access Journals |
