Research Obstetrics| Volume 202, ISSUE 3, P253.e1-253.e7, March 01, 2010

# The cost-effectiveness of prenatal screening for spinal muscular atrophy

### Objective

We sought to investigate the cost-effectiveness of prenatal screening for spinal muscular atrophy (SMA).

### Study Design

A decision analytic model was created to compare a policy of universal SMA screening to that of no screening. The primary outcome was incremental cost per maternal quality-adjusted life year. Probabilities, costs, and outcomes were estimated through literature review. Univariate and multivariate sensitivity analyses were performed to test the robustness of our model to changes in baseline assumptions.

### Results

Universal screening for SMA is not cost-effective at $4.9 million per quality-adjusted life year. In all, 12,500 women need to be screened to prevent 1 case of SMA, at a cost of$5.0 million per case averted. Our results were most sensitive to the baseline prevalence of disease.

### Conclusion

Universal prenatal screening for SMA is not cost-effective. For populations at high risk, such as those with a family history, SMA testing may be a cost-effective strategy.

## Key words

Spinal muscular atrophy (SMA) is a neurodegenerative disorder characterized by death of the alpha motor neurons in the spinal cord leading to progressive proximal muscular weakness.
• Kostova F.V.
• Williams V.C.
• Keemskerk J.
• et al.
Spinal muscular atrophy: classification, diagnosis, management, pathogenesis, and future research directions.
SMA affects approximately 1 in 10,000 live births and is the leading genetic cause of infant mortality and the second most common autosomal-recessive disorder, after cystic fibrosis.
Committee on Genetics
ACOG committee opinion no 432 Spinal muscular atrophy.
See related editorials, pages 207 and 209
SMA is subdivided into 4 groups. Type I, Werdnig-Hoffmann disease, is the most common and the most severe form with onset <6 months of age and death usually within the first 2 years of life, mainly secondary to respiratory failure. Type II is slightly less severe, with onset usually between 6 and 18 months of age. These children are usually able to sit but unable to walk or stand. Type III, Wohlfart-Kugelberg-Welander disease, typically has an onset during the first few years of life, but may be delayed until adolescence, and while these children are usually able to walk they may still have difficulty rising from a seated position. Type IV, or adult-onset SMA, is a mild form of disease that may not be noticed until adulthood, if at all.
National Institute for Neurologic Disorders and Stroke
NINDS spinal muscular atrophy information page.
SMA is caused by the homozygous deletion of the survival motor neuron (SMN1) gene in 95% of cases. The remaining cases are caused by a heterozygous deletion on one allele and a point mutation on the other.
• Prior T.
Carrier screening for spinal muscular atrophy.
Genetic testing is available to both identify carriers (through polymerase chain reaction identification of a single abnormally deleted SMN1 gene) and to diagnose affected individuals (2 abnormal copies). Although similar to other testing for other genetic conditions with identified mutations, there are several limitations to carrier screening. In all, 5% of the population has 2 normal copies of the SMN1 gene on one chromosome and a deletion mutation on the other.
Committee on Genetics
ACOG committee opinion no 432 Spinal muscular atrophy.
These individuals would not be identified as carriers even though they do possess 1 abnormal SMN1 allele. Additionally, screening cannot determine which of the 4 types an affected individual will manifest.
National Institute for Neurologic Disorders and Stroke
NINDS spinal muscular atrophy information page.
Current controversy exists as to whether prenatal carrier screening for SMA should be offered to women or couples who are pregnant or planning pregnancy. The American College of Medical Genetics issued a statement saying that “carrier testing should be offered to all couples.”
National Institute for Neurologic Disorders and Stroke
NINDS spinal muscular atrophy information page.
However, the American College of Obstetricians and Gynecologists (ACOG) issued a contradictory statement that “preconception and prenatal screening for SMA is not recommended in the general population at this time.”
Committee on Genetics
ACOG committee opinion no 432 Spinal muscular atrophy.
Moreover, ACOG stated that prior to recommending universal prenatal screening, several issues must be addressed, including cost-effectiveness analysis. As such, our study seeks to further informed debate with regard to carrier screening by investigating whether a policy of universal prenatal carrier screening would be a cost-effective strategy.

## Materials and Methods

A decision analytic model (Figure 1) was created with software (TreeAgePro 2008; TreeAge Software Inc, Williamstown, MA). The study is a theoretic decision analytic model, and thus exempt from institutional review board approval as no human subjects were involved. Our theoretic cohort consisted of all women presenting for prenatal care at an early enough gestational age to allow for prenatal carrier screening. We compared a policy of universal carrier screening to that of no screening.
In the no screening arm, we assumed a baseline population risk for SMA of 1 in 10,000.
Committee on Genetics
ACOG committee opinion no 432 Spinal muscular atrophy.
We divided children with SMA into 2 categories: severe disease (type I and some with type II) and milder disease (some type II, and all types III and IV). In the screening arm, women underwent serum carrier screening; if the screen was positive, their partners were also screened. If both partners were identified as carriers, an amniocentesis for fetal diagnosis was performed. We accounted for miscarriages as a result of these procedures. The model assumed that pregnancies were terminated if a fetal diagnosis of SMA was made.
As a baseline, we assumed a 100% uptake rate for each subsequent diagnostic test and that all pregnancies with a fetal SMA diagnosis were terminated. Variation in the choice of pregnancy termination was subject to sensitivity analysis.

### Probabilities

Table 1 displays our baseline model inputs. The carrier screening regimen in our model is a serum probe amplification of all exons in the SMN1 gene. Carrier screening is a dosage analysis test; individuals with 50% of normal SMN1 allele levels are identified as carriers. We assumed that there would be no false-positive screens. However, for the 5% of individuals with 2 copies of the SMN1 gene on 1 chromosome, we did allow for false-negative screening. Carrier screening also does not test for more subtle point mutations. Given these limitations, we assumed an overall 90% sensitivity rate for carrier detection.
• Prior T.
Carrier screening for spinal muscular atrophy.
TABLE 1Model inputs
VariableValueRange considered in sensitivity analysisReference
Probabilities
Prevalence of SMA0.00010.0030–0.0001
• Prior T.
Carrier screening for spinal muscular atrophy.
Proportion of SMA that is severe0.70000.5000–0.9000
• Prior T.
Carrier screening for spinal muscular atrophy.
Sensitivity of carrier screening0.90000.8000–1.0000
• Prior T.
Carrier screening for spinal muscular atrophy.
Proportion of cases from de novo mutation0.02000.0000–0.0400
• Prior T.
Carrier screening for spinal muscular atrophy.
Miscarriage risk following amniocentesis0.00290.0017–0.0050
• Caughey A.B.
• Hopkins L.M.
• Norton M.E.
Chorionic villus sampling compared with amniocentesis and the difference in the rate of pregnancy loss.
• Odibo A.O.
• Gray D.L.
• Dicke J.M.
• Stamilio D.M.
• Macones G.A.
• Crane J.P.
Revisiting the fetal loss rate after second-trimester genetic amniocentesis: a single center's 16-year experience.
• Eddleman K.A.
• Malone F.D.
• Sullivan L.
• et al.
Pregnancy loss rates after midtrimester amniocentesis.
Costs (2009$) Carrier screening$425$100–1000 Fetal diagnostic testing$395$100–1000 Amniocentesis$1277$500–3000 • Harris R.A. • Washington A.E. • Nease Jr, R.F. • Kuppermann M. Cost utility of prenatal diagnosis and the risk-based threshold. Pregnancy termination$1743$1000–4000 • Doyle N.M. • Gardner M.O. Prenatal cystic fibrosis screening in Mexican Americans: an economic analysis. Lifetime cost, child with severe disease$322,126$50,000–2,000,000 • Hardart M.K. • Burns J.P. • Truog R.D. Respiratory support in spinal muscular atrophy type I: a survey of physician practices and attitudes. • Sevick M.A. • Kamlet M.S. • Hoffman L.A. • Rawson I. Economic cost of home-based care for ventilator-assisted individuals. Lifetime cost, child with mild disease$819,762$500,000–3,000,000 • Waitzman N.J. • Romano P.S. • Scheffler R.M. Estimates of the economic costs of birth defects. Utilities (maternal) Fetal loss (miscarriage or termination)0.920.85–0.95 • Kuppermann M. • Nease R.F. • Learman L.A. • Gates E. • Blumberg B. • Washington A.E. Procedure-related miscarriages and Down syndrome-affected births: implications for prenatal testing based on women's preferences. Having a child with severe disease0.780.50–0.90 • Bach J.R. • Vega J. • Majors J. • Friedman A. Spinal muscular atrophy type 1 quality of life. Having a child with mild disease0.810.50–0.90 • Kuppermann M. • Nease R.F. • Learman L.A. • Gates E. • Blumberg B. • Washington A.E. Procedure-related miscarriages and Down syndrome-affected births: implications for prenatal testing based on women's preferences. Average life expectancy, y Maternal50 National Center for Health Statistics National Vital Statistics United States for 2003. Child with severe disease21–5 • Prior T. Carrier screening for spinal muscular atrophy. Child with mild disease≥50 • Prior T. Carrier screening for spinal muscular atrophy. SMA, spinal muscular atrophy. Little. The cost-effectiveness of prenatal screening for SMA. Am J Obstet Gynecol 2010. In addition, we accounted for de novo mutations. A total of 98% of SMA cases arise in a traditional autosomal-recessive inheritance pattern; however, 2% of cases arise from new mutations. • Prior T. Carrier screening for spinal muscular atrophy. We assumed that these de novo cases occur only in offspring with at least 1 carrier parent. The possibility of 2 de novo mutations producing disease should be exceedingly rare (and there would be no effect of a single de novo mutation in a child carrier). Thus, in our model, we assume that 25% of offspring with 2 carrier parents will have SMA, 0% of offspring with no carrier parents will have SMA, and 0.005% of offspring with only 1 carrier parent will have SMA (calculated assuming a 1 in 10,000 prevalence of disease). ### Costs Cost data were derived through available literature review. All costs were inflated to 2009 dollars using the general Consumer Price Index (CPI). US Department of Labor, Bureau of Labor Statistics Consumer price indices. Of note, as cost estimates by category of care were not available (eg, pharmacy, inpatient, physician), the general CPI was chosen to avoid overinflation by using the overall medical care component. A 3% discount rate was applied and a societal perspective was assumed. • Siegel J.E. • Weinstein M.C. • Russell R.B. • Gold M.R. Recommendation for reporting cost-effectiveness analysis. Genetic testing costs were available through the Seattle Children's Hospital Genetics Laboratory World Wide Website. Carrier screening testing was through dosage analysis of multiple ligation-dependent probe amplification of all exons in the SMN1 gene, at a cost of$425 per test. Diagnostic fetal testing was an analysis of exons 7 and 8 of the SMN1 gene from fetal cells obtained during amniocentesis and maternal DNA was compared to fetal DNA to evaluate for maternal cell contamination at a cost of $395 per test. This was in addition to the cost of the amniocentesis procedure itself, which was estimated from the literature. • Harris R.A. • Washington A.E. • Nease Jr, R.F. • Kuppermann M. Cost utility of prenatal diagnosis and the risk-based threshold. We could find no direct data from which to estimate the lifetime cost of caring for a child with either severe or mild SMA. As such, we used the best proxies currently available in the literature. For mild disease, we assumed that the lifetime cost of caring for a child would be similar to that of caring for a child with cerebral palsy and used available estimates of total direct and indirect cost of care for such children. • Waitzman N.J. • Romano P.S. • Scheffler R.M. Estimates of the economic costs of birth defects. We inflated the direct costs of care to 2009 dollars using the CPI. For indirect costs, we used the overall compensation index to inflate the figure. US Department of Labor, Bureau of Labor Statistics Compensation indices. For severe SMA, respiratory complications are the main cause of morbidity and mortality. • Wang C.H. • Finkel R.S. • Bertini E.S. • et al. Consensus statement for standard of care in spinal muscular atrophy. The need for respiratory support for either treatment or palliation accounts for the vast majority of lifetime cost expenditures. • Hardart M.K. • Burns J.P. • Truog R.D. Respiratory support in spinal muscular atrophy type I: a survey of physician practices and attitudes. To estimate the cost of respiratory support, we used published data from a national cross-sectional survey of primary caregivers for ventilator-dependent individuals. • Sevick M.A. • Kamlet M.S. • Hoffman L.A. • Rawson I. Economic cost of home-based care for ventilator-assisted individuals. Direct costs of care included the cost of equipment, utilities, home health personnel, health services (physician, hospital and skilled nursing facility utilization), and monthly annualized costs of 1-time purchases and home remodeling. Indirect costs were also considered, including lost wages for the primary care giver. Estimates were of true cost not charge. We inflated the estimate from 1994 to 2009 dollars using the compensation index for wages and lost income and the CPI for other costs. ### Quality-adjusted life years We only considered maternal quality-adjusted life years (QALYs) in our analysis. Given our model included the possibility of pregnancy termination as a result of information obtained from prenatal screening, considering neonatal QALYs in our model would have biased against any screening regimen. We used a 3% discount rate for QALYs. • Siegel J.E. • Weinstein M.C. • Russell R.B. • Gold M.R. Recommendation for reporting cost-effectiveness analysis. For pregnancies that ended in fetal loss (either procedure-related miscarriage or pregnancy termination of an affected fetus) we used a maternal utility of 0.92, • Kuppermann M. • Nease R.F. • Learman L.A. • Gates E. • Blumberg B. • Washington A.E. Procedure-related miscarriages and Down syndrome-affected births: implications for prenatal testing based on women's preferences. which is a standard gamble utility estimate, thus applied to remaining life years. For women who have an affected child with severe disease, we used an estimate of 0.78. This estimate comes from work that used a Likert scale to specifically estimate the impact of type I SMA on parental QALY. • Bach J.R. • Vega J. • Majors J. • Friedman A. Spinal muscular atrophy type 1 quality of life. We applied this QALY estimate for 2 years only (average life expectancy for a child with severe disease). Beyond the 2 years, we used the reduced maternal QALY of 0.92 associated with fetal loss. For mild disease, there was no available parental QALY estimate. We therefore used the standard gamble estimate for Down syndrome (0.81) as a proxy. • Kuppermann M. • Nease R.F. • Learman L.A. • Gates E. • Blumberg B. • Washington A.E. Procedure-related miscarriages and Down syndrome-affected births: implications for prenatal testing based on women's preferences. ### Analysis We calculated total costs and QALYs to determine the incremental cost-effectiveness of offering prenatal screening for SMA. In addition, we calculated clinical outcomes, including total number of cases of SMA, pregnancy terminations, and procedure-related miscarriages. We considered cost per QALY as well as cost per case of SMA averted. We performed sensitivity analyses to evaluate the robustness of our conclusions. For univariate analysis, we used ranges available either from literature or estimated through best clinical estimate (Table 1). For those costs and probabilities that appeared to have greatest effect on model outcomes, we performed threshold analysis to determine the range over which the outcome was still cost-effective. Additionally, we conducted a Monte Carlo simulation to test the robustness of our model to simultaneous multivariable changes in probability, cost, and utility inputs. For this simulation, costs were assumed to have a gamma distribution with SD of 50%. This is similar to a normal distribution but with a left skew, which is appropriate for medical costs given that there are often outliers in the upper cost ranges. For probability estimates we used beta distributions with SD of 20%. Beta distributions are the multivariate equivalent of binomial distributions. We ran the Monte Carlo simulation with 100,000 trials. ## Results Our model found that universal prenatal screening for SMA would reduce the number of cases of SMA by 80%, from 1 in 10,000 (baseline population risk) to approximately 1 in 50,000 (Table 2). The remaining 20% of cases are accounted for by false-negative screening and de novo mutations. In all, 12,594 women would have to be screened to prevent 1 case of SMA. The overall impact of SMA screening on procedure-related miscarriages was negligible, at <1 additional procedure-related miscarriage per 100,000 women screened. TABLE 2Results (per 100,000 women) VariablePrenatal SMA screeningNo screening offered Clinical outcomes Children with SMA, n210 Procedure-related miscarriages<1 Pregnancy terminations for SMA8 Total cost$44,295,289$4,714,165 Total QALYs2,572,9542,572,946 Cost-effectiveness ratios Cost per QALY$4,889,675
Cost per case of SMA averted$4,985,028 QALY, quality-adjusted life year; SMA, spinal muscular atrophy. Little. The cost-effectiveness of prenatal screening for SMA. Am J Obstet Gynecol 2010. In our model, prenatal screening for SMA would cost, on average, an additional$40 million per 100,000 women. This additional cost came at minimal additional QALY benefit (8 additional QALYs per 100,000 women). Thus, we found prenatal screening for SMA not to be cost-effective, at an incremental $4.9 million per QALY gained. In terms of cases averted, it would cost$5.0 million to prevent 1 additional case of SMA.

Figure 2 displays the results of all univariate sensitivity analyses in a modified tornado diagram. Screening was cost-effective if the column crossed a willingness-to-pay threshold in the $50,000–100,000 range. As shown, the only column that does cross this threshold is the prevalence of SMA. Thus, we find that the only circumstance in which prenatal SMA testing may be cost-effective is when there is a higher baseline prevalence of disease. We chose to vary the prevalence of disease down to a value of 1 in 300 to model the highest risk population. As SMA is an autosomal-recessive disorder, an individual at the highest risk of being a carrier would be one with a sibling that was diagnosed with the disease. This individual would then have a 2 in 3 risk of being a carrier themselves, multiplied by the 1 in 50 risk that their partner is a carrier and if so then a 1 in 4 risk that they would then have an affected child, for an overall disease prevalence of 1 in 300. Figure 3 displays the incremental cost-effectiveness of prenatal SMA screening while varying the baseline prevalence of disease to a 1 in 300 risk. Screening becomes cost-effective at a willingness-to-pay threshold of$100,000 per QALY once the disease prevalence is at least 1 in 1000 and at a willingness-to-pay threshold of $50,000 per QALY once the disease prevalence is 1 in 900. Screening becomes the dominant strategy (more effective and less expensive) once the disease prevalence is >1 in 800. As shown in Figure 2, the model was robust to all reasonable ranges of cost and utility estimates. It was additionally robust to changes in the life expectancy for a child with severe disease. Our model was most sensitive to the cost of carrier screening; however, even at a cost of$100 per test, which is 25% of our baseline cost estimate, screening was not cost-effective at $803,000 per QALY. In order for screening to be cost-effective at a willingness-to-pay threshold of$100,000, screening would have to cost only $44 per test (approximately 10% of baseline cost estimates). Multivariate sensitivity analysis was performed to test the robustness of the model to simultaneous changes in probabilities, costs, and utilities using a Monte Carlo simulation. Monte Carlo results are displayed in Figure 4. Carrier screening was not cost-effective in 99.7% of the 100,000 trials using a willingness-to-pay threshold of$100,000. The 95% confidence interval (where screening was not cost-effective in 95% of the trials) was at a willingness-to-pay threshold of $700,000. ## Comment We find that universal prenatal screening for SMA is not cost-effective with a modeled cost of >$4 million per additional QALY gained. In the United States, interventions are generally considered cost-effective if they are in the range of $50,000–100,000 per QALY. • Owens D.K. Interpretation of cost-effectiveness analyses. • Gold M.R. • Siegel J.E. • Russell L.B. • Weinstein M.C. Cost-effectiveness in health and medicine. Universal prenatal SMA screening is well beyond this range and, moreover, in both univariate and multivariate sensitivity analyses our estimates appear robust. As with any cost-effectiveness study, the reliability of model outcomes depends on the strength of the evidence supporting estimates chosen for model inputs. Available literature was unfortunately very limited, especially with regard to the costs of having a child with SMA. However, the cost estimates had little impact on the overall findings given that our estimated cost per added QALY falls far beyond what is usually considered to be cost-effective. SMA screening does not approach the cost-effective range ($50,000–100,000 per QALY
• Owens D.K.
Interpretation of cost-effectiveness analyses.
• Gold M.R.
• Siegel J.E.
• Russell L.B.
• Weinstein M.C.
Cost-effectiveness in health and medicine.
) until the cost of severe disease is >$7 million or the cost of the mild disease is >$17 million, both of which are >20 times the baseline estimates. As such, we believe there is little chance that the basic finding that universal SMA testing is not cost-effective would change appreciably with different model inputs.
While we find that universal screening is not cost-effective, it may be cost-effective to screen in specific high-risk populations. Although there is no known ethnic or racial predisposition to SMA, the baseline prevalence is higher in women with a family history of this disease. Carrier screening in this population, or cascade screening, may well be cost-effective (based on our analysis) as long at the prevalence of disease is approximately 1 in 1000 (10 times the baseline population risk). Thus, from a cost-effectiveness standpoint, our findings support the most recent published guidelines from ACOG that prenatal screening is not recommended for the general population but should rather be limited to those with a family history of disease. ACOG further states, however, that screening should be made available to any couple that requests it and has undergone appropriate genetic counseling. Our model suggests that judged in terms of cost per maternal QALY, screening for those without a family history, regardless of whether provider or patient driven, is extremely expensive and thus a cost-effectiveness perspective would argue against such testing.
Any theoretical model, including ours, is limited in its ability to capture complexities involved in actual clinical medicine. In considering SMA screening, there are several areas where real-world decisions may be more nuanced than our model. First, due to lack of available data on patient preferences and utilities specific for SMA, we had to extrapolate some of our assumptions. The pool of currently available utility estimates was especially small, as we were specifically interested in the maternal utility of having a child with SMA, rather than the patient utility of having the disease. As such, we used what we judged to be the best utility estimate available, that of having a child with Down syndrome, to approximate the maternal utility of having a child with mild SMA. We recognize, however, that these are inherently different clinical entities, especially with regard to neurologic compromise. However, on review of available literature, our point estimate (0.81) appears reasonable, resting approximately in the middle of other parental utility estimates.
• Dosiou C.
• Sanders G.D.
• Araki S.S.
• Crapo L.M.
Screening pregnant women for autoimmune thyroid disease: a cost-effectiveness analysis.
• Vandenbussche F.P.
• De Jong-Potjer L.C.
• Stiggelbout A.M.
• Le Cessie S.
• Keirse M.J.
Differences in the valuation of birth outcomes among pregnant women, mothers, and obstetricians.
In addition, this utility falls above that of severe disease and below that of fetal loss, which makes rank order sense. In univariate sensitivity analysis our model was also robust to wide variation in this assumption.
Second, not all who elect SMA screening may choose to undergo amniocentesis for fetal diagnosis or pregnancy termination if an affected pregnancy is identified. Some may be seeking screening simply to be informed about possible outcomes. To be clear, as the rate of opting for termination of pregnancy decreases among those screened, screening using our model's perspectives and assumptions becomes less cost-effective and thus would not change our overall findings. Additionally, in real-world decision making, some patients who are found to be carriers may elect to forgo partner carrier screening and go straight to amniocentesis. While this would, on average, increase the detection rate in the screening arm, such choices would also make screening even less cost-effective as the vast majority of women who screen positive would have partners who screen negative, and thus have avoided an amniocentesis, a test that is more expensive than carrier screening.
Third, some of the costs in our model may actually be less when you factor in other clinical realities. For example, if a woman was having an amniocentesis for another reason, the cost associated with this procedure for fetal SMA diagnosis alone would be less. Again, however, given the findings of our sensitivity analyses in which costs were adjusted over a wide range, it is unlikely that minor cost adjustments would have a significant impact on results. Additionally, one might argue that the cost of carrier screening is truly less from a societal perspective, as one would presumably only need to undergo screening in the first pregnancy. In this sense, cost viewed over a woman's reproductive lifetime might be the cost of 1 test divided by the number of delivered pregnancies. However, given that our findings were robust down to 10% of the baseline cost of carrier screening, this is also unlikely to have a significant impact on results. One may also argue that our model is limited by not considering potential QALY changes for a patient's partner, family, and/or associated others. Unfortunately no model will ever be able to capture the far-reaching benefits that carrier screening may have. It is unlikely, however, given how far our baseline estimate is from reaching a cost-effective level, that even if one was able to fully consider these potential effects that carrier screening would reach a cost-effective threshold.
Fourth, as scientific advances continue, treatment options for children with SMA may became available. The life expectancy of a child with SMA may increase, and there may be a clinical advantage to earlier diagnosis. Such advances would necessitate remodeling, but given that our baseline cost-effectiveness is so high, however, we estimate that only marked changes in medical management and outcome would appreciably alter our basic findings. For example, even if new medications/technologies increased the life expectancy to 5 years (250% of our baseline estimate) screening would not be cost-effective at \$3.9 million per QALY.
We hope that our main finding, that universal SMA carrier screening is not cost-effective although may be cost-effective for those with a family history of disease, can help inform the current debate with regard to screening recommendations. We are cognizant, however, that policy is not, nor should it be, entirely dependent upon economic analyses. There are many complexities to the benefits of carrier screening that are not captured in our model. The ability of couples to make informed reproductive choices is a societal good that is difficult to quantify in any economic model. Rather, we offer this model as one additional piece of information for policy makers to consider. ACOG currently recommends universal cystic fibrosis screening, for example, and while the cost of cystic fibrosis screening generally falls below accepted thresholds of cost-effectiveness, analyses suggest that such screening is not cost-effective in all populations.
National Center for Health Statistics
National Vital Statistics United States for 2003.
• van Gool K.
• Hall J.
• Delatycki M.
• Massie J.
Economic evaluation of cystic fibrosis screening: a review of the literature.
• Rowley P.T.
• Kaplan R.M.
Prenatal screening for cystic fibrosis: an economic evaluation.
As our scientific knowledge regarding the genetic basis for disease continues to expand, the number of conditions that can be screened for prenatally will likely increase. Our findings suggest, however, that universal prenatal screening for rare genetic conditions using single-test assays may prove too expensive to be cost-effective from a societal perspective. The development of new high-throughput technologies that allow multiple genes to be analyzed in a single screening platform will likely lower the cost of individual screening protocols and may provide more cost-effective universal screening regimens.

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