Patient attitudes and preferences about expanded noninvasive prenatal testing.20231130160457

Patient attitudes and preferences about expanded noninvasive prenatal testing.

Dubois ML, Winters PD, Rodrigue MA, Gekas J. Front Genet. 2023;14:976051. Published 2023 Apr 18. doi:10.3389/fgene.2023.976051 Open access: Learn more

Tags: Patient Perspectives, 2023, Canada, RAAs, CNVs

  • 200 general-risk patients in Quebec were surveyed regarding their expectations for expanded NIPT.
  • 88% wanted all information that could have an immediate impact on fetal health, 82% wanted all information that could have an immediate impact on infant health from birth, and almost half wanted information about RAAs and/or all genetic information that may affect the baby.
Pregnant women’s and policymakers’ preferences for the expansion of noninvasive prenatal screening: A discrete choice experiment approach study.20231130155206

Pregnant women’s and policymakers’ preferences for the expansion of noninvasive prenatal screening: A discrete choice experiment approach study.

Nguyen HM, Baradaran M, Daigle G, Nshimyumukiza L, Guertin JR, Reinharz D. Health Sci Rep. 2023;6(8):e1516. Published 2023 Aug 23. doi:10.1002/hsr2.1516. Open Access: Learn more

Tags: Patient Perspectives, Health Care Provider Perspectives, 2023, Canada, RAAs, CNVs

  • 272 pregnant women and 24 policymakers completed the questionnaire.
  • In the pregnant women group, all seven attributes were statistically significant, denoting their importance, with pregnant women placing the greatest importance on cost related to the test, followed by test performance, and degree of test result certainty.
  • In the policymakers group, three attributes were statistically significant: test performance, degree of test result certainty regarding the severity of the disability, and cost related to the test.
Expansion of non-invasive prenatal screening to the screening of 10 types of chromosomal anomalies: a cost-effectiveness analysis.20231130154840

Expansion of non-invasive prenatal screening to the screening of 10 types of chromosomal anomalies: a cost-effectiveness analysis.

Soukkhaphone B, Baradaran M, Nguyen BD, et al. BMJ Open. 2023;13(8):e069485. Published 2023 Aug 30. doi:10.1136/bmjopen-2022-069485. Open Access: Learn more

Tags: Health Economics, 2023, Canada, RAAs, CNVs

  • Based on results of this simulation study, the most effective and most cost-effective option in almost all screening strategies is the one that includes all additional targeted conditions (SCAs, 22q11.2 deletions syndrome, large deletions/duplications >7 Mb and RATs).
  • “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.”