Isolated echogenic intracardiac foci and the role of cell‐free fetal DNA: A cost‐effectiveness analysis

• Published in: Prenatal diagnosis 2020-12, Vol.40 (12), p.1517-1524
• Main Authors: Hacker, Francis M, Hersh, Alyssa R, Shaffer, Brian L, Caughey, Aaron B
• Format: Article
• Language: English
• Subjects: Aneuploidy; Cost analysis; Decision analysis; Deoxyribonucleic acid; DNA; Down's syndrome; Fetuses; Genetic screening; Mathematical models; Prenatal diagnosis; Screening; Strategy
• ISSN: 0197-3851; 1097-0223
• DOI: 10.1002/pd.5803

Objectives 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. Methods 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. Results 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. Conclusion In a low‐risk population with prior reassuring aneuploidy screening, it is not cost effective to offer cfDNA after identification of an isolated EIF.