Oregon Health and Science University School of Medicine, Portland, Oregon.
Department of Obstetrics and Gynecology, Oregon Health and Science University, Portland, Oregon.
Fertil Steril. 2022 Jul;118(1):56-64. doi: 10.1016/j.fertnstert.2022.03.010. Epub 2022 May 23.
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.
Cost-effectiveness analysis in a theoretical cohort of 3,851 couples, where one individual is heterozygous for Huntington disease.
N/A.
PATIENTS/ANIMALS: None.
In vitro fertilization preimplantation genetic testing for couples attempting conception.
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.
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.
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.
研究在体外受精（IVF）中进行单基因疾病的胚胎植入前遗传学检测，对于亨廷顿病的杂合子个体与未经辅助受孕而进行产前诊断相比，是否具有成本效益。
在一个理论队列中，对 3851 对夫妇进行成本效益分析，其中一方为亨廷顿病的杂合子。
无。
患者/动物：无。
尝试受孕的夫妇进行体外受精胚胎植入前遗传学检测。
包括父母双方的成本和质量调整生命年（QALY），以及程序相关损失、自然流产、妊娠终止以及早发/正常/迟发性亨廷顿病的次要结果。设定愿意支付的阈值为 100,000 美元/QALY。
在有一名亨廷顿病杂合子个体的夫妇中，与未经辅助受孕而进行产前诊断相比，体外受精胚胎植入前遗传学检测的成本更低，效果更高，因此成为主导策略。体外受精胚胎植入前遗传学检测可获得 77 个额外的 QALY，并节省 46,394,268 美元。在体外受精胚胎植入前遗传学检测策略中，所有测量结果均较低，包括 39 例程序相关损失减少、39 例自然流产减少和 462 例妊娠终止减少。值得注意的是，在我们的理论夫妇队列中，体外受精胚胎植入前遗传学检测导致亨廷顿病受影响的后代减少了 1,079 例。我们的结果在广泛的假设范围内具有稳健性。
当一个个体为亨廷顿病的杂合子时，与未经辅助受孕而进行产前诊断相比，体外受精胚胎植入前遗传学检测是一种具有成本效益的受孕策略。不仅可以通过使用体外受精胚胎植入前遗传学检测来减轻亨廷顿病对后代的发病率和死亡率，而且本研究还证明了对于亨廷顿病患者，使用体外受精胚胎植入前遗传学检测的成本效益。
