An Economic Analysis of Cell-Free DNA Non-Invasive Prenatal Testing in the US General Pregnancy Population

Abstract

ObjectiveAnalyze the economic value of replacing conventional fetal aneuploidy screening approaches with non-invasive prenatal testing (NIPT) in the general pregnancy population.MethodsUsing decision-analysis modeling, we compared conventional screening to NIPT with cell-free DNA (cfDNA) analysis in the annual US pregnancy population. Sensitivity and specificity for fetal aneuploidies, trisomy 21, trisomy 18, trisomy 13, and monosomy X, were estimated using published data and modeling of both first- and second trimester screening. Costs were assigned for each prenatal test component and for an affected birth. The overall cost to the healthcare system considered screening costs, the number of aneuploid cases detected, invasive procedures performed, procedure-related euploid losses, and affected pregnancies averted. Sensitivity analyses evaluated the effect of variation in parameters. Costs were reported in 2014 US Dollars.ResultsReplacing conventional screening with NIPT would reduce healthcare costs if it can be provided for $744 or less in the general pregnancy population. The most influential variables were timing of screening entry, screening costs, and pregnancy termination rates. Of the 13,176 affected pregnancies undergoing screening, NIPT detected 96.5% (12,717/13,176) of cases, compared with 85.9% (11,314/13,176) by conventional approaches. NIPT reduced invasive procedures by 60.0%, with NIPT and conventional methods resulting in 24,596 and 61,430 invasive procedures, respectively. The number of procedure-related euploid fetal losses was reduced by 73.5% (194/264) in the general screening population.ConclusionBased on our analysis, universal application of NIPT would increase fetal aneuploidy detection rates and can be economically justified. Offering this testing to all pregnant women is associated with substantial prenatal healthcare benefits.

Effect of non-invasive prenatal testing as a contingent approach on the indications for invasive prenatal diagnosis and prenatal detection rate of Down's syndrome

“…We also recommend improving the prenatal detection rate of a screening programme for Down's syndrome by adjusting the cut-off value for cFTS, for example, from 1 in 250 to 1 in 1000, rather than offering it to all women as a primary screening. 33 In our unit, the detection rate would be improved from 91.4% to 96.6% as cFTS risk of three of our five missed cases of Down's syndrome were above 1 in 1000. As such, NIPT would be offered to 16.9% of women, including 6.8% with cFTS risk ≥1 in 250 and 10.1% with risk >1 in 1000 but <1 in 250.…”

The Integration of Noninvasive Prenatal Screening into the Existing Prenatal Paradigm: a Survey of Current Genetic Counseling Practice

“…Several studies to evaluate the cost of prenatal screening have compared the cost of traditional screening to the cost of NIPS. Some of the studies have concluded that universal NIPS is more economical as it leads to increased identification of fetal aneuploidy (Benn et al 2015b;Fairbrother et al 2015;Walker et al 2015), though Walker et al differentiate that while universal NIPS is more cost-effective for society, using NIPS only in those at increased risk for fetal aneuploidy is more cost-effective from the government/payer perspective. To the contrary, Kaimal et al (2015) found that for screening based on maternal age alone, initial serum screening was more cost-effective for all women younger than age 40.…”

“…A substantial number of respondents expressed concerns about cost and insurance, such as issues with insurance coverage for multiple screens, the cost to the patients, the financial impact on the department, and the cost to the overall healthcare system. Practice guidelines as well as information on the cost effectiveness of testing (Benn et al 2015b;Fairbrother et al 2015;Kaimal et al 2015;Walker et al 2015) will likely have a strong impact on insurance coverage and thus the cost to patients. The response from this study population suggests that cost estimates and practice guidelines must consider the likelihood that NIPS will complement rather than replace other forms of screening.…”

Cell-Free DNA Screening

“…In addition, the cost of cfDNA screening must be compared with the cost of several different serum screening strategies. 38–43 A recent economic decision analysis compared conventional screening to cfDNA screening in a theoretical cohort of pregnant women in the United States and found that replacing conventional screening with cfDNA screening would reduce health care costs if the test could be provided for $744 or less in the general pregnancy population. Further, in this model, cfDNA had a higher detection rate compared with conventional screening (96.52% vs 85.9%), reduced the theoretical number of invasive procedures by 60%, and reduced the number of theoretical procedure-related euploid pregnancy losses by 73.5%.…”

“…Further, in this model, cfDNA had a higher detection rate compared with conventional screening (96.52% vs 85.9%), reduced the theoretical number of invasive procedures by 60%, and reduced the number of theoretical procedure-related euploid pregnancy losses by 73.5%. 38 …”