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Updated: Sep 22, 2025
Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
In vitro fertilization with preimplantation genetic testing for monogenetic diseases versus unassisted conception
Alicia A Christensen1, Pamela B Parker2, Alyssa R Hersh2
1Oregon Health and Science University School of Medicine, Portland, Oregon.
Objective:
To investigate if in vitro fertilization (IVF) with preimplantation genetic testing for monogenic disease is cost effective for heterozygous individuals with Huntington disease vs. unassisted conception with prenatal diagnosis.
Design:
Cost-effectiveness analysis in a theoretical cohort of 3,851 couples, where one individual is heterozygous for Huntington disease.
Setting:
N/A.
Patients/Animals:
None.
Intervention:
In vitro fertilization preimplantation genetic testing for couples attempting conception.
Main Outcome Measures:
Outcomes included cost and quality-adjusted life years (QALYs) for both parents in addition to secondary outcomes of procedure-related loss, spontaneous abortion, termination of pregnancy, and early/normal/late-onset Huntington disease. A willingness-to-pay threshold was set at $100,000/QALY.
Results:
In vitro fertilization preimplantation genetic testing is lower in cost and higher in effectiveness compared to unassisted conception with prenatal diagnosis among couples with one heterozygous Huntington disease individual, making it the dominant strategy. In vitro fertilization preimplantation genetic testing was associated with 77 more QALYs and a cost savings of $46,394,268. All measured outcomes were lower in the IVF preimplantation genetic testing strategy, including 39 fewer procedure-related losses, 39 fewer spontaneous abortions, and 462 fewer terminations of pregnancy. Most notably, in our theoretical cohort of couples, IVF preimplantation genetic testing resulted in 1,079 fewer Huntington disease-affected offspring. Our results were robust over a wide range of assumptions.
Conclusion:
In vitro fertilization preimplantation genetic testing is a cost-effective conception strategy compared to unassisted conception with prenatal diagnosis when one individual is heterozygous for Huntington disease. Not only can morbidity and mortality incurred by Huntington disease be mitigated for the offspring with the use of IVF preimplantation genetic testing, but this study demonstrates the cost-effectiveness of using IVF preimplantation genetic testing for those with Huntington disease.
