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Introduction: Austere clinical settings, including remote military installations, face unique challenges in screening pregnant women for aneuploidy. The objective of this study was to compare the direct and indirect prenatal costs of traditional 2-part serum-based screening to cell-free DNA (cfDNA) for detection of trisomies 18 and 21 for a military treatment facility with limited in-house perinatal resources., Materials and Methods: We identified Naval Hospital Guantanamo Bay as a surrogate for an austere clinical environment. A prenatal cost of care analysis incorporating direct and indirect expenses was performed to compare the 2 aneuploidy screening strategies for a theoretical cohort of 100 patients for detection of trisomies 18 and 21. The baseline aneuploidy uptake rate was determined using a historical cohort. Test performance characteristics were obtained from the contracting laboratory. Aneuploidy rates and costs were calculated using previously published data., Results: Assuming a baseline screen uptake rate of 87%, initial screening using the traditional approach would directly cost $8,285.01 versus $44,140.32 with cfDNA. Considering indirect costs such as travel, consultative services, evaluation and follow-up testing of an abnormal screen result, and lost productivity, the cost difference narrows to $14,458.25 over a 5- to 6-year period. Cost equivalence is achieved when cfDNA is priced at $341.17 per test., Conclusion: Cell-free DNA as an initial screening strategy offers enhanced detection rates for trisomies 18 and 21 but remains more costly than traditional screening when incorporating direct and indirect expenses. In a low volume setting with limited resources, the added cost may be justified given the implications of unrecognized aneuploidy., (Published by Oxford University Press on behalf of the Association of Military Surgeons of the United States 2020. This work is written by (a) US Government employee(s) and is in the public domain in the US.)

Background: Despite Trisomy 13 and 18 being among the most fatal congenital anomalies, limited information exists about resource utilization and factors associated with length of stay (LOS) and total hospital charges (THC) for these anomalies., Methods: We studied data sets of the patient discharge data set from the California Office of Statewide Health Planning and Development from 2006 to 2010, to determine differences in resource utilization for survivors and non-survivors and identify the predictors of LOS and total hospital charges. Descriptive statistics were assessed for demographic and clinical characteristics. General linear regression models were used to identify predictors of LOS and THC., Results: Seventy-six Trisomy 13 and 115 Trisomy 18 patients were identified, for whom inpatient mortality was 27.6% and 20.9%, respectively. In patients with Trisomy 13, after adjusting for gender, ethnicity, advanced directive (DNR), insurance and co-morbidities on multivariate analysis, the provision of more than 96 h of mechanical ventilation was associated with significantly increased LOS (standard error, SE) by 18.0 ± 5.3 days and THC (SE) by $399,000 ± $85,000. In terms of insurance type, patients with private coverage had 10.8 ± 4.9 days more than patients with Medicaid. In patients with Trisomy 18, on multivariate analysis, after adjusting for gender, ethnicity, DNR, insurance and co-morbidities, more than 96 h of mechanical ventilation was associated with increased LOS (SE) by 36.8 ± 6.8 days and THC (SE) by $365,000 ± $59,000., Conclusion: Understanding predictors that are associated with longer LOS and higher THC may be associated in hospital resource allocation for this vulnerable population of infants., (Copyright © 2019. Published by Elsevier B.V.)

Objective: To compare costs and efficacy of reflex and recall prenatal DNA screening for trisomy 21, 18 and 13 (affected pregnancies). In both methods women have Combined test markers measured. With recall screening, women with a high Combined test risk are recalled for counselling and offered a DNA blood test or invasive diagnostic testing. With reflex screening, a DNA analysis is automatically performed on plasma collected when blood was collected for measurement of the Combined test markers., Methods: Published data were used to estimate, for each method, using various unit costs and risk cut-offs, the cost per woman screened, cost per affected pregnancy diagnosed, and for a given number of women screened, numbers of affected pregnancies diagnosed, unaffected pregnancies with positive results, and women with unaffected pregnancies having invasive diagnostic testing., Results: Cost per woman screened is lower with reflex v recall screening: £37 v £38, and £11,043 v £11,178 per affected pregnancy diagnosed (DNA £250, Combined test markers risk cut-off 1 in 150). Reflex screening results in similar numbers of affected pregnancies diagnosed, with 100-fold fewer false-positives and 20-fold fewer women with unaffected pregnancies having invasive diagnostic testing., Conclusions: Reflex DNA screening is less expensive, more cost-effective, and safer than recall screening., Competing Interests: Nicholas J. Wald is director of Logical Medical Systems, which produces software for the interpretation of prenatal screening tests.This does not alter our adherence to PLOS ONE policies on sharing data and materials. The other authors declare no conflict of interest.

Objective: Non-invasive prenatal testing (NIPT) based on cell-free fetal DNA (cffDNA) is highly accurate in the detection of common fetal autosomal trisomies. Aim of this project was to investigate short-term costs and clinical outcomes of the contingent use of cffDNA for prenatal screening of trisomies 21, 18, 13 within a national health service (NHS)., Methods: An economic analysis was developed from the perspective of the Italian NHS to compare two possible scenarios for managing pregnant women: women managed according to the Standard of Care screening (SoC) vs a cffDNA scenario, where Harmony Prenatal Test was introduced as a second line screening choice for women with an "at risk" result from SoC screening., Results: The introduction of cffDNA as a second line screening test, conditional to a risk ≥ 1:1,000 from SoC screening, showed a 3% increase in the detection of trisomies, with a 71% decrease in the number of invasive tests performed. Total short-term costs (pregnancy management until childbirth) decreased by € 19 million (from € 84.5 to 65.5 million)., Conclusion: The adoption of the Harmony Prenatal Test in women resulting at risk from SoC screening, implied a greater number of trisomies detection, together with a reduction of the healthcare costs., Competing Interests: Harmony Prenatal Test is a Roche test. Paolini D, Speranza G, Palmisano M, Dionisi M are employees of Roche Diagnostics. This does not alter our adherence to PLOS ONE policies on sharing data and materials. Prefumo F and Camurri L received consulting fees from Roche Diagnostics.

Objective: We assessed survival, hospital length of stay (LOS), and costs of medical care for infants with lethal congenital malformations, and also examined the relationship between medical and surgical therapies and survival., Study Design: Retrospective cohort study including infants born 1998-2009 with lethal congenital malformations, identified using a longitudinally linked maternal/infant database., Results: The cohort included 786 infants: trisomy 18 (T18, n = 350), trisomy 13 (T13, n = 206), anencephaly (n = 125), bilateral renal agenesis (n = 53), thanatophoric dysplasia/achondrogenesis/lethal osteogenesis imperfecta (n = 38), and infants > 1 of the birth defects (n = 14). Compared to infants without birth defects, infants with T18, T13, bilateral renal agenesis, and skeletal dysplasias had longer survival rates, higher inpatient medical costs, and longer LOS., Conclusion: Care practices and survival have changed over time for infants with T18, T13, bilateral renal agenesis, and skeletal dysplasias. This information will be useful for clinicians in counseling families and in shaping goals of care prenatally and postnatally.

Objective: To examine whether obstetricians think that cardiac surgery is ethical in babies with common aneuploidies and whether insurance companies should be required to pay for these surgeries., Study Design: A survey was e-mailed to 2897 OB-GYNs, and 898 (31%) actively practicing obstetricians responded to the survey. Respondents were asked whether it is ethical to offer cardiac surgery for babies with heart defects diagnosed with trisomies 21, 18, and 13 and Turner syndrome and whether insurance companies should be required to pay for such surgeries in cases of trisomy 18 or 13. Chi-square tests were utilized to compare responses by using an alpha level of .05., Results: Most obstetricians thought that offering cardiac surgery was ethical if the baby had trisomy 21 or Turner syndrome (94%), but not trisomy 18 or 13 (75%). Most obstetricians (69%) thought that insurance companies should not be legally required to pay for cardiac surgery for the latter group., Conclusion: Obstetricians were more likely to think cardiac surgery was ethical if the prognosis or the outcome was good. Most respondents did not think that insurance companies should be required to subsidize the cost of cardiac surgeries for all babies with trisomy 18 or 13., (© 2018 John Wiley & Sons, Ltd.)