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Public Health/Global Health

Poster Session 2

(574) Cost-effectiveness of exome sequencing with major central nervous system structural anomalies

Tuesday, February 13, 2024
3:30 PM – 5:00 PM  
Location: Prince George's Exhibit Hall CDE, Lower Atrium Level
Objective: The central nervous system (CNS) is affected in 9% of fetal malformations but accounts for as much as one-third of all pregnancy terminations due to fetal anomaly. When applying Chromosomal microarray (CMA) to the diagnosis of fetal CNS anomalies, the estimated diagnostic yield remains low.Recent study  demonstrated that in fetuses with major CNS anomalies, Exome sequencing (ES) has an additional diagnostic yield of 44% over the 10% provided by CMA only. We aimed to determine the cost-effectiveness of ES in major CNS anomalies

Study Design: We modeled costs, utility and quality adjusted life years (QALYs) for CMA versus CMA+ES in prenatal testing.  Two strategies were compared using Markovian process decision analysis model: (1) CMA only, abnormal result culminating in termination of pregnancy (TOP)                  (2) ES after a negative CMA, for positive result a TOP  is conducted .The outcomes included health quality of life after  TOP or having a disabled child, the cost of CMA test, ES test and the health expenses of a disabled child. The time horizon of the model was 20 years. Sensitivity analysis including probabilistic sensitivity analysis of all parameters was conducted.

Results: In the base model the cost was $91,059  for CMA test and the average health expansion for disable child  and $3,101 for CMA+ES. The QALY with time horizon of 20 years were 11.84 and 13.84 for CMA and CMA+ES strategies respectively, thus the strategy CMA+ES dominates the strategy CMA alone, higher QALY value and cost saving. Sensitivity analysis revealed that the results are robust and for all sensitivity analysis CMA+ES dominated the CMA with cost saving.

Conclusion:

We suggest that Exome sequencing has the potential to be cost-effective  and should be considered as a first-tier test in the prenatal diagnosis of major CNS anomalies. The substantial increase in diagnostic yield offered by ES not only provides valuable information for the current pregnancy but also holds significant relevance for future pregnancies. These findings are pivotal in facilitating timely and evidence-based decision-making.