Hacker Francis M, Hersh Alyssa R, Shaffer Brian L, Caughey Aaron B
Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA.
Department of Obstetrics and Gynecology, Oregon Health & Science University, Portland, Oregon, USA.
Prenat Diagn. 2020 Dec;40(12):1517-1524. doi: 10.1002/pd.5803. Epub 2020 Aug 21.
Cell-free fetal DNA (cfDNA) has been increasingly incorporated into prenatal aneuploidy screening paradigms given its relatively high sensitivity for Down syndrome (DS). This is often the case when fetal ultrasonographic soft markers are present, such as the relatively common echogenic intracardiac focus (EIF). We sought to evaluate the cost-effectiveness of a screening strategy that included cfDNA screening when an isolated EIF is identified in a low-risk population with prior aneuploidy screening.
A decision-analytic model was constructed using TreeAge software with probabilities derived from the literature. Our model compared cfDNA screening following isolated EIF detection in women less than 35 years with prior reassuring first trimester screen compared to a strategy of no further aneuploidy screening. Strategies were compared to generate an incremental cost-effectiveness ratio with a threshold of $100 000/quality-adjusted life year (QALY) and applied to a theoretical cohort.
The cfDNA strategy resulted in 21 fewer DS births and 52 additional QALYs, however, increased costs by $51.3 million. This yielded an incremental cost-effectiveness ratio of $986 503; therefore, it was not a cost-effective strategy.
In a low-risk population with prior reassuring aneuploidy screening, it is not cost effective to offer cfDNA after identification of an isolated EIF.
鉴于游离胎儿DNA（cfDNA）对唐氏综合征（DS）具有相对较高的敏感性，其已越来越多地被纳入产前非整倍体筛查方案。当存在胎儿超声软指标时，情况通常如此，例如相对常见的心脏内强回声光斑（EIF）。我们试图评估一种筛查策略的成本效益，该策略在先前进行过非整倍体筛查的低风险人群中，当识别出孤立的EIF时，包括cfDNA筛查。
使用TreeAge软件构建决策分析模型，概率来自文献。我们的模型比较了在年龄小于35岁且孕早期筛查结果令人放心的女性中，检测到孤立的EIF后进行cfDNA筛查与不进行进一步非整倍体筛查的策略。比较各策略以生成增量成本效益比，阈值为100,000美元/质量调整生命年（QALY），并应用于一个理论队列。
cfDNA策略导致唐氏综合征出生数减少21例，质量调整生命年增加52个，但成本增加5130万美元。这产生了986,503美元的增量成本效益比；因此，这不是一个具有成本效益的策略。
在先前非整倍体筛查结果令人放心的低风险人群中，识别出孤立的EIF后提供cfDNA筛查不具有成本效益。
