![]() 6, 7 ACOG has recognized ECS as an acceptable screening strategy, 3 and the American Medical Association Current Procedural Terminology (CPT) Editorial Panel has approved a CPT code (81443, effective January 2019) for panethnic sequencing-based ECS panels with ≥15 genes. ACOG recommends offering cystic fibrosis (CF) and spinal muscular atrophy (SMA) screening for all women considering pregnancy (or already pregnant), 4 as well as additional screening based on family history and ethnicity.Įxpanded carrier screening (ECS), often performed using next-generation sequencing (NGS), screens tens to hundreds of conditions. 1, 2 The American College of Obstetricians and Gynecologists (ACOG), 3, 4 the American College of Medical Genetics and Genomics (ACMG), 5 and other US medical societies recommend offering carrier screening for select prevalent conditions. The data and framework herein may facilitate similar assessments in other cohorts.Ĭollectively, Mendelian diseases are a significant cause of infant mortality and hospitalization. Conclusionīased on screened patients predominantly with private coverage, preconception ECS is predicted to reduce the burden of Mendelian disease in a cost-effective manner compared with minimal screening. Relative to minimal screening, preconception ECS reduces the affected birth rate and is estimated to be cost-effective (i.e.,<$50,000 incremental cost per life-year), findings robust to perturbation. Resultsįor every 100,000 pregnancies, 290 are predicted to be affected by ECS-panel conditions, which, on average, increase mortality by 26 undiscounted life-years and individually incur $1,100,000 in lifetime costs. Model robustness was evaluated using one-way and probabilistic sensitivity analyses. Carrier rates from >60,000 patients, primarily with private insurance, informed disease incidence estimates, while cost and life-years-lost data were aggregated from the literature and a cost-of-care database. ![]() Preconception screening was modeled using a decision tree comparing minimal screening and a 176-condition ECS panel. ![]() Although medical societies consider ECS an acceptable practice, the health economics of ECS remain incompletely characterized. Minimal guidelines recommend offering testing for cystic fibrosis and spinal muscular atrophy, but expanded carrier screening (ECS) assesses hundreds of conditions simultaneously. Carrier screening identifies couples at high risk for conceiving offspring affected with serious heritable conditions. ![]()
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