Evans M I, Sonek J D, Hallahan T W, Krantz D A
Comprehensive Genetics, New York, NY, USA.
Ultrasound Obstet Gynecol. 2015 Jan;45(1):74-83. doi: 10.1002/uog.14693. Epub 2014 Dec 9.
To determine whether implementation of primary cell-free fetal DNA (cffDNA) screening would be cost-effective in the USA and to evaluate potential lower-cost alternatives.
Three strategies to screen for trisomy 21 were evaluated using decision tree analysis: 1) a primary strategy in which cffDNA screening was offered to all patients, 2) a contingent strategy in which cffDNA screening was offered only to patients who were high risk on traditional first-trimester screening and 3) a hybrid strategy in which cffDNA screening was offered to all patients ≥ 35 years of age and only to patients < 35 years who were high risk after first-trimester screening. Four traditional screening protocols were evaluated, each assessing nuchal translucency (NT) and pregnancy-associated plasma protein-A (PAPP-A) along with either free or total beta-human chorionic gonadotropin (β-hCG), with or without nasal bone (NB) assessment.
Utilizing a primary cffDNA screening strategy, the cost per patient was 1017 US$. With a traditional screening protocol using free β-hCG, PAPP-A and NT assessment as part of a hybrid screening strategy, a contingent strategy with a 1/300 cut-off and a contingent strategy with a 1/1000 cut-off, the cost per patient was 474, 430 and 409 US$, respectively. Findings were similar using the other traditional screening protocols. Marginal cost per viable case detected for the primary screening strategy as compared to the other strategies was 3-16 times greater than the cost of care for a missed case.
Primary cffDNA screening is not currently a cost-effective strategy. The contingent strategy was the lowest-cost alternative, especially with a risk cut-off of 1/1000. The hybrid strategy, although less costly than primary cffDNA screening, was more costly than the contingent strategy.
确定在美国实施游离胎儿DNA（cffDNA）初筛是否具有成本效益，并评估潜在的低成本替代方案。
采用决策树分析评估了三种筛查21三体综合征的策略：1）向所有患者提供cffDNA筛查的初筛策略；2）仅向传统孕早期筛查高危患者提供cffDNA筛查的应急策略；3）向所有35岁及以上患者以及孕早期筛查后高危的35岁以下患者提供cffDNA筛查的混合策略。评估了四种传统筛查方案，每种方案均评估颈项透明层（NT）和妊娠相关血浆蛋白A（PAPP-A），以及游离或总β-人绒毛膜促性腺激素（β-hCG），并评估有无鼻骨（NB）。
采用cffDNA初筛策略时，每位患者的成本为1017美元。在混合筛查策略中，使用游离β-hCG、PAPP-A和NT评估的传统筛查方案、截断值为1/300的应急策略以及截断值为1/1000的应急策略，每位患者的成本分别为474美元、430美元和409美元。使用其他传统筛查方案时结果相似。与其他策略相比，初筛策略检测到每例存活病例的边际成本比漏诊病例的护理成本高3至16倍。
目前，cffDNA初筛并非具有成本效益的策略。应急策略是成本最低的替代方案，尤其是截断值为1/1000时。混合策略虽然比cffDNA初筛成本低，但比应急策略成本高。
