Related Experiment Video
Updated: Jun 17, 2026
Signal Acquisition, Score Interpretation, and Economics of a Non-Invasive Point-of-Care Test for Coronary Artery Disease
Published on: August 9, 2024
Modelling the cost-effectiveness of non-invasive prenatal testing in the English sickle cell and thalassaemia
Vittoria Vardanega1, Ania Bobrowska1, Benjamin Ruban-Fell1
1Costello Medical, Cambridge, UK.
Insights
Non-invasive prenatal testing (NIPT) for sickle cell disease (SCD) may offer improved equity, but requires further research to determine cost-effectiveness compared to standard care screening. This study explored NIPT
Area of Science:
- Genetics and genomics
- Reproductive health
- Public health screening
Background:
- Sickle cell disease (SCD) and thalassaemia are inherited blood disorders causing chronic anemia and significant health complications.
- Current standard of care (SoC) prenatal screening involves carrier blood testing and invasive diagnostic procedures.
- Non-invasive prenatal testing (NIPT) offers a potential alternative to improve screening efficiency and equity, especially when paternal testing is challenging.
Purpose of the Study:
- To compare the diagnostic and economic outcomes of a proposed NIPT screening pathway with the current SoC for sickle cell disease.
- To evaluate the cost-effectiveness of integrating NIPT into prenatal screening for SCD.
- To assess the impact of NIPT on diagnostic accuracy and resource utilization within the NHS England framework.
Main Methods:
- A deterministic decision tree model was employed to simulate screening pathway outcomes for SCD pregnancies.
- Input data for NIPT sensitivity and specificity were derived from a separate minimally acceptable criteria study.
- The analysis focused on diagnostic outcomes (tests performed, diagnoses) and economic outcomes (costs per case, cost-effectiveness thresholds).
Main Results:
- The NIPT pathway resulted in an incremental cost of £7,584,551 for the SCD population over 616,573 pregnancies.
- Compared to SoC, the NIPT pathway incurred higher costs per case detected (£33,158) and per accurate diagnosis (£368).
- For NIPT to be cost-neutral per case detected, its cost would need to be £45.21.
Conclusions:
- The exploratory analysis suggests NIPT's potential role in sickle cell disease prenatal screening.
- Further research is needed to fully establish the diagnostic efficacy and cost-effectiveness of NIPT in this context.
- NIPT implementation may require specific cost thresholds to align with standard care economic outcomes.
Background:
Sickle cell disease (SCD) and thalassaemia are inherited conditions causing chronic anaemia, increased infection risk and multi-organ failure. Standard of care (SoC) prenatal screening involves carrier blood testing for pregnant women and, if positive, carrier blood testing for biological fathers followed by invasive prenatal diagnosis for pregnancies at risk. Non-invasive prenatal testing (NIPT) presents an alternative pathway which may reduce diagnostic delays and improve equity for pregnant women when the biological father is unavailable by focusing invasive testing exclusively on fetuses shown to have a high risk of SCD by NIPT. This study compares the outcomes of SoC screening with a proposed NIPT pathway replacing the paternal blood testing stage.
Methods:
A deterministic decision tree model is used to identify the outcomes of the screening pathways, focusing on the SCD population, from the perspective of the National Health Service (NHS) England. Sensitivity and specificity inputs for NIPT are informed by a separately published minimally acceptable criteria study. Diagnostic outcomes include the number of performed and declined tests and true and false positive/negative diagnoses in each pathway. Economic outcomes include the testing cost of the pathway, the cost per case detected and per accurate diagnosis, and an incremental cost threshold analysis for NIPT. Additional scenario analyses are conducted for the SCD and thalassaemia combined population and for the thalassaemia populations.
Results:
When considering an overall cohort of 616,573 pregnancies, implementing the NIPT pathway for the screen-positive SCD population results in an incremental cost of £7,584,551. Of 276 prenatal diagnoses (PND) performed in the SoC arm, 76 show a true positive result for SCD, and 2 false positives are identified. In the NIPT arm, there are 6090 NIPTs and 543 PNDs performed, with 213 true positives and 235 false positives identified. The NIPT pathway costs £33,158 more per case detected, and £368 more per accurate diagnosis than SoC; to obtain no incremental cost per case detected versus the SoC, NIPT would need to cost £45.21.
Conclusions:
The presented exploratory analysis may gauge the potential cost-effectiveness of introducing NIPT into the screening pathway, pending further research on the technique's diagnostic efficacy.
