Routine screening for hepatitis C in pregnancy is cost-effective in a large urban population in Ireland: a retrospective study.

OBJECTIVE: To investigate whether risk factor-based screening in pregnancy is failing to identify women with hepatitis C virus (HCV) infection and to assess the cost-effectiveness of universal screening. DESIGN: Retrospective study and model-based economic evaluation. SETTING: Two urban tertiary referral maternity units, currently using risk factor-based screening for HCV infection. POPULATION: Pregnant women who had been tested for hepatitis B, HIV but not HCV. METHODS: Anonymised sera were tested for HCV antibody. Positive sera were tested for HCV antigen. A cost-effectiveness analysis of a change to universal screening was performed using a Markov model to simulate disease progression and Monte Carlo simulations for probabilistic sensitivity analysis. MAIN OUTCOME MEASURES: Presence of HCV antigen and cost per quality-adjusted life year (QALY). RESULTS: In all, 4655 samples were analysed. Twenty had HCV antibodies and five HCV antigen. This gives an active infection rate of 5/4655, or 0.11%, compared with a rate of 0.15% in the risk-factor group. This prevalence is 65% lower than a previous study in the same hospitals from 2001 to 2005. The calculated incremental cost-effectiveness ratio (ICER) for universal screening was €3,315 per QALY gained. CONCLUSION: This study showed that the prevalence of HCV infection in pregnant women in the Dublin region has declined by 65% over the past two decades. Risk factor-based screening misses a significant proportion of infections. A change to universal maternal screening for hepatitis C would be cost-effective in our population. TWEETABLE ABSTRACT: Universal maternal screening for hepatitis C is cost-effective in this urban Irish population.

A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies.

Exome sequencing (ES) is an important diagnostic tool for individuals with neurodevelopmental disorders (NDD) and/or multiple congenital anomalies (MCA). However, the cost of ES limits the test's accessibility for many patients. We evaluated the yield of publicly funded clinical ES, performed at a tertiary center in Israel, over a 3-year period (2018-2020). Probands presented with (1) moderate-to-profound global developmental delay (GDD)/intellectual disability (ID); or (2) mild GDD/ID with epilepsy or congenital anomaly; and/or (3) MCA. Subjects with normal chromosomal microarray analysis who met inclusion criteria were included, totaling 280 consecutive cases. Trio ES (proband and parents) was the default option. In 252 cases (90.0%), indication of NDD was noted. Most probands were males (62.9%), and their mean age at ES submission was 9.3 years (range 1 month to 51 years). Molecular diagnosis was reached in 109 probands (38.9%), mainly due to de novo variants (91/109, 83.5%). Disease-causing variants were identified in 92 genes, 15 of which were implicated in more than a single case. Male sex, families with multiple-affected members and premature birth were significantly associated with lower ES yield (p < 0.05). Other factors, including MCA and coexistence of epilepsy, autism spectrum disorder, microcephaly or abnormal brain magnetic resonance imaging findings, were not associated with the yield. To conclude, our findings support the utility of clinical ES in a real-world setting, as part of a publicly funded genetic workup for individuals with GDD/ID and/or MCA.

The cost-effectiveness of genotyping versus sequencing for prenatal cystic fibrosis carrier screening.

OBJECTIVE: We investigated the cost-effectiveness of three sequential prenatal cystic fibrosis (CF) carrier screening strategies: genotyping both partners, genotyping one partner then sequencing the second, and sequencing both partners. METHOD: A decision-analytic model compared the strategies in a theoretical cohort of four million pregnant couples in the US population and five racial/ethnic sub-populations. Inputs were obtained from literature and varied in sensitivity analysis. Outcomes included cost per quality-adjusted life year (QALY), missed carrier couples, affected newborns, missed prenatal diagnoses, terminations, and procedure-related losses. The cost-effectiveness threshold was $100,000/QALY. RESULTS: Sequencing both partners identified 1099 carrier couples that were missed by genotyping both partners, leading to 273 fewer missed prenatal diagnoses, 152 more terminations, and 152 fewer affected newborns. A similar trend was observed in the genotyping followed by sequencing strategy. The incremental cost-effectiveness ratio of genotyping followed by sequencing compared to genotyping both partners was $180,004/QALY and the incremental cost-effectiveness ratio of sequencing both partners compared to genotyping followed by sequencing was $17.6 million/QALY. Sequencing both partners was cost-effective below $339 per test, genotyping/sequencing between $340 and $1837, and genotyping both partners above $1838. Sequencing was not cost-effective among five racial/ethnic sub-populations. CONCLUSION: Despite improved outcomes, sequencing for prenatal CF carrier screening was not cost-effective compared to genotyping. The clinical significance of the incremental cost-effectiveness of CF carrier screening is a matter of deliberation for public policy debate.

Contingent prenatal screening for frequent aneuploidies with cell-free fetal DNA analysis.

OBJECTIVE: To analyze the results of contingent screening for common aneuploidies at our center from June 2017 to June 2019. MATERIALS AND METHODS: Traditional screening tests were performed using a combination of biochemical markers and ultrasound measurements in the first and second trimesters to assess the risk of trisomies 21 (T21), 18 (T18) and 13 (T13). Cell-free DNA (cf-DNA) testing was offered (Harmony test) to pregnant women at high risk (>1/280 for T21 and > 1/150 for T13 and T18) and a normal early morphology scan. In positive cases, prenatal sampling was strongly recommended to confirm the results by gold standard methods (QF-PCR and karyotyping). Newborns' phenotypes were corroborated after birth in all cases. RESULTS: In this prospective study, 8153 pregnant women were enrolled, resulting in 390 at high risk according to traditional screening tests. cfDNA testing was offered to 383 women. Traditional screening tests showed a false negative rate of 9.68% for T21. Traditional test sensitivity for T21 was 90.3%, for a false positive rate of 4.17% and a positive predictive value of 7.6%. The positive and negative predictive value for cfDNA testing was 100%. The approach used avoided invasive procedures in 91.3% of women at high risk. The prevalence of chromosomal abnormalities in the population analyzed was 1 in 164, and 1 in 210 for T21. CONCLUSIONS: Our results show that offering cf-DNA testing to women at high risk in traditional tests (including those with risks >1 in 50) significantly reduces false positives and, therefore, the number of invasive tests. Extending the use of cf-DNA testing to intermediate risk categories may be cost effective.

Out-of-pocket and private pay in clinical genetic testing: A scoping review.

Full coverage of the cost of clinical genetic testing is not always available through public or private insurance programs, or a public healthcare system. Consequently, some patients may be faced with the decision of whether to finance testing out-of-pocket (OOP), meet OOP expenses required by their insurer, or not proceed with testing. A scoping review was conducted to identify literature associated with patient OOP and private pay in clinical genetic testing. Seven databases (EMBASE, MEDLINE, CINAHL, PsychINFO, PAIS, the Cochrane Database of Systematic Reviews, and the JBI Evidence-Based Practice database) were searched, resulting in 83 unique publications included in the review. The presented evidence includes a descriptive analysis, followed by a narrative account of the extracted data. Results were divided into four groups according to clinical indication: (1) hereditary breast and ovarian cancer, (2) other hereditary cancers, (3) prenatal testing, (4) other clinical indications. The majority of studies focused on hereditary cancer and prenatal genetic testing. Overall trends indicated that OOP costs have fallen and payer coverage has improved, but OOP expenses continue to present a barrier to patients who do not qualify for full coverage.

The impact of antenatal syphilis point of care testing on pregnancy outcomes: A systematic review.

BACKGROUND: Mother-to-child transmission of syphilis remains a leading cause of neonatal death and stillbirth, disproportionally affecting women in low-resource settings where syphilis prevalence rates are high and testing rates low. Recently developed syphilis point-of-care tests (POCTs) are promising alternatives to conventional laboratory screening in low-resource settings as they do not require a laboratory setting, intensive technical training and yield results in 10-15 minutes thereby enabling both diagnosis and treatment in a single visit. Aim of this review was to provide clarity on the benefits of different POCTs and assess whether the implementation of syphilis POCTs is associated with decreased numbers of syphilis-related adverse pregnancy outcomes. METHODS: Following the PRISMA guidelines, three electronic databases (PubMed, Medline (Ovid), Cochrane) were systematically searched for intervention studies and cost-effectiveness analyses investigating the association between antenatal syphilis POCT and pregnancy outcomes such as congenital syphilis, low birth weight, prematurity, miscarriage, stillbirth as well as perinatal, fetal or infant death. RESULTS: Nine out of 278 initially identified articles were included, consisting of two clinical studies and seven modelling studies. Studies compared the effect on pregnancy outcomes of treponemal POCT, non-treponemal POCT and dual POCT to laboratory screening and no screening program. Based on the clinical studies, significantly higher testing and treatment rates, as well as a significant reduction (93%) in adverse pregnancy outcomes was reported for treponemal POCT compared to laboratory screening. Compared to no screening and laboratory screening, modelling studies assumed higher treatment rates for POCT and predicted the most prevented adverse pregnancy outcomes for treponemal POCT, followed by a dual treponemal and non-treponemal POCT strategy. CONCLUSION: Implementation of treponemal POCT in low-resource settings increases syphilis testing and treatment rates and prevents the most syphilis-related adverse pregnancy outcomes compared to no screening, laboratory screening, non-treponemal POCT and dual POCT. Regarding the benefits of dual POCT, more research is needed. Overall, this review provides evidence on the contribution of treponemal POCT to healthier pregnancies and contributes greater clarity on the impact of diverse diagnostic methods available for the detection of syphilis.

Health Insurance Status of Pregnant Women and the Likelihood of Receipt of Antenatal Screening for HIV in Sub-Saharan Africa.

BACKGROUND: We investigated if initiating preventive care against HIV vertical transmission by antenatal HIV screening is independent of the patients' source of financial reimbursement for the care received in sub-Saharan Africa (SSA). METHODS: Using information from the WHO's Global Health Expenditure Database and the Demographic Health Surveys Database for 27 sub-Saharan countries, we used Spearman's correlation and adjusted survey logistic regression to determine the potential relationship between enrollment in health insurance and the likelihood that expectant mothers would be offered antenatal HIV screening. RESULTS: We found that expectant mothers covered by health insurance were more than twice as likely to be offered antenatal screening for HIV compared to the uninsured. The likelihood differed by the type of insurance plan the expectant mother carried. DISCUSSION: Health insurance is more of a financial tool that this study finds to be necessary to boost the uptake of preventive and therapeutic HIV care in SSA. CONCLUSION: The ensuing disparity in receiving proper care could hinder the goals of 90-90-90 and the forthcoming 95-95-95 plan in SSA.

Economic evaluation of the sFlt-1/PlGF ratio for the short-term prediction of preeclampsia in a Japanese cohort of the PROGNOSIS Asia study.

The PRediction of short-term Outcomes in preGNant wOmen with Suspected preeclampsIa Study (PROGNOSIS) Asia validated the use of the soluble fms-like tyrosine 1/placental growth factor (sFlt-1/PlGF) ratio cutoff value of ≤38 to rule out the occurrence of preeclampsia in the short term in Asian women. We assessed the economic impact of the introduction of the sFlt-1/PlGF ratio test for predicting preeclampsia in Japan using data from the Japanese cohort of PROGNOSIS Asia. The cost analysis was developed with estimates in either a no-test scenario, with clinical decisions based on standard diagnostic procedures alone, or a test scenario, in which the sFlt-1/PlGF ratio test was used in addition to standard diagnostic procedures. For both scenarios, rates of hospitalization and other test characteristics were obtained from the results for the Japanese cohort in PROGNOSIS Asia. The total cost per patient was the main outcome of this cost analysis model. Introduction of the sFlt-1/PlGF ratio test using a cutoff value of 38 resulted in a reduced hospitalization rate compared with the rate in the no-test scenario (14.4% versus 8.7%). The reduction in the rate of hospitalizations led to an estimated 16 373 JPY reduction in healthcare costs per patient. The sFlt-1/PlGF ratio test is likely to reduce the unnecessary hospitalization of women at low risk of developing preeclampsia in the short term while also identifying high-risk individuals requiring appropriate management. Reducing unnecessary hospitalizations would result in significant cost savings in the Japanese healthcare system.

Cost-effectiveness analysis of a model of first-trimester prediction and prevention of preterm pre-eclampsia compared with usual care.

OBJECTIVES: Pre-eclampsia (PE) causes substantial maternal and neonatal mortality and morbidity. In addition to the personal impact on women, children and their families, PE has a significant economic impact on our society. Recent research suggests that a first-trimester multivariate model is highly predictive of preterm (< 37 weeks' gestation) PE and can be combined successfully with targeted prophylaxis (low-dose aspirin), resulting in an 80% reduction in prevalence of disease. The aim of this study was to examine the potential health outcomes and cost implications following introduction of first-trimester prediction and prevention of preterm PE within a public healthcare setting, compared with usual care, and to conduct a cost-effectiveness analysis to inform health-service decisions regarding implementation of such a program. METHODS: A decision-analytic model was used to compare usual care with the proposed first-trimester screening intervention within the obstetric population (n = 6822) attending two public hospitals within a metropolitan district health service in New South Wales, Australia, between January 2015 and December 2016. The model, applied from early pregnancy, included exposure to a variety of healthcare professionals and addressed type of risk assessment (usual care or first-trimester screening) and use of (compliance with) low-dose aspirin prescribed prophylactically for prevention of PE. All pathways culminated in six possible health outcomes, ranging from no PE to maternal death. Results were presented as the number of cases of PE gained/avoided and the incremental increase/decrease in economic costs arising from the intervention compared with usual care. Significant assumptions were tested in sensitivity/uncertainty analyses. RESULTS: The intervention produced, across all gestational ages, 31 fewer cases of PE and reduced aggregate economic health-service costs by 1 431 186 Australian dollars over the 2-year period. None of the tested iterations of uncertainty analyses reported additional cases of PE or higher economic costs. The new intervention based on first-trimester screening dominated usual care. CONCLUSION: This cost-effectiveness analysis demonstrated a reduction in prevalence of preterm PE and substantial cost savings associated with a population-based program of first-trimester prediction and prevention of PE, and supports implementation of such a policy. © 2020 International Society of Ultrasound in Obstetrics and Gynecology.

Using Surveillance Data to Respond to an Outbreak of Congenital Syphilis in Arizona Through Third-Trimester Screening Policies, 2017-2018.

INTRODUCTION: The number of congenital syphilis (CS) cases in Arizona quadrupled from an average of 14 cases annually before 2017 to 61 cases in 2018, and a statewide outbreak was declared. The Arizona Department of Health Services (ADHS) analyzed statewide surveillance data to identify missed opportunities for prevention and collaborated with the Arizona Health Care Cost Containment System (AHCCCS) to inform response activities. METHODS: ADHS developed a metric to identify missed opportunities for CS prevention during pregnancy by using medical records, vital records, and case investigation notes for all mothers of infants born with CS from January 1, 2017, through June 30, 2018. AHCCCS conducted a cost-effectiveness analysis to calculate the effect of increasing perinatal syphilis screening. RESULTS: Arizona had 57 cases of CS during the study period, of which 17 (29.8%) could have been prevented through third-trimester screening for women who were in prenatal care but screened late (n = 9), were infected after their first prenatal visit screen (n = 7), or were reinfected after an initial reactive syphilis test and appropriate treatment and not rescreened (n = 1). The estimated net cost of combining the additional primary (screening) and secondary (treatment) costs of a third-trimester screen for all pregnant AHCCCS members and the estimated total per-year savings of all newborn hospitalizations was $527. PRACTICE IMPLICATIONS: Third-trimester syphilis screening could prevent CS in regions where syphilis transmission is high. Partnering with health insurance agencies to evaluate the cost effectiveness of screening recommendations may improve the accuracy of the estimate of the potential cost savings by using insurance agency-specific data for the population at risk for CS.

Optimizing Fetal Aneuploidy Screening in an Austere Military Clinical Environment: A Prenatal Cost Comparison.

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.

Cost-effectiveness of dual maternal HIV and syphilis testing strategies in high and low HIV prevalence countries: a modelling study.

BACKGROUND: Dual HIV and syphilis testing might help to prevent mother-to-child transmission (MTCT) of HIV and syphilis through increased case detection and treatment. We aimed to model and assess the cost-effectiveness of dual testing during antenatal care in four countries with varying HIV and syphilis prevalence. METHODS: In this modelling study, we developed Markov models of HIV and syphilis in pregnant women to estimate costs and infant health outcomes of maternal testing at the first antenatal care visit with individual HIV and syphilis tests (base case) and at the first antenatal care visit with a dual rapid diagnostic test (scenario one). We additionally evaluated retesting during late antenatal care and at delivery with either individual tests (scenario two) or a dual rapid diagnosis test (scenario three). We modelled four countries: South Africa, Kenya, Colombia, and Ukraine. Strategies with an incremental cost-effectiveness ratio (ICER) less than the country-specific cost-effectiveness threshold (US$500 in Kenya, $750 in South Africa, $3000 in Colombia, and $1000 in Ukraine) per disability-adjusted life-year averted were considered cost-effective. FINDINGS: Routinely offering testing at the first antenatal care visit with a dual rapid diagnosis test was cost-saving compared with the base case in all four countries (ICER: -$26 in Kenya,-$559 in South Africa, -$844 in Colombia, and -$454 in Ukraine). Retesting during late antenatal care with a dual rapid diagnostic test (scenario three) was cost-effective compared with scenario one in all four countries (ICER: $270 in Kenya, $260 in South Africa, $2207 in Colombia, and $205 in Ukraine). INTERPRETATION: Incorporating dual rapid diagnostic tests in antenatal care can be cost-saving across countries with varying HIV prevalence. Countries should consider incorporating dual HIV and syphilis rapid diagnostic tests as the first test in antenatal care to support efforts to eliminate MTCT of HIV and syphilis. FUNDING: WHO, US Agency for International Development, and the Bill & Melinda Gates Foundation.

Socioeconomic barriers to prenatal diagnosis of critical congenital heart disease.

OBJECTIVE: The study was designed to assess the impact of socioeconomic barriers on the rate of prenatal diagnosis of critical congenital heart disease (CCHD). METHODS: This was a retrospective review of the Medicaid analytic extract (MAX) dataset, a national Medicaid administrative claims database with linked maternal-infant claims, from 2007 to 2012. Infants with CCHD were identified by searching for International Classification of Diseases (ICD) 9 codes and Procedural Coding System (PCS) codes for CCHD within the first 6 months after the delivery date. Multivariate logistic regression was used to evaluate the effect of maternal and socioeconomic factors on the prenatal diagnosis rate. RESULTS: There were 4702 mother-infant dyads included in the analysis. The prenatal diagnosis rate of CCHD was 27.9%. Factors independently associated with odds of prenatal diagnosis of CCHD were presence of maternal diabetes (OR, 2.055; P < .001), ZIP code level median household income (OR, 1.005; P = .015), sonographer labor quotient (OR, 1.804; P = .047), the year of the delivery (OR, 1.155; P < .001), and needing a view other than a 4 chamber or outflow tract view to obtain the diagnosis (OR, 0.383; P < .001). CONCLUSION: Maternal health, diabetes, socioeconomic factors, and access to sonographers impacts prenatal diagnosis of CCHD.

Eliciting women's preference for prenatal testing in China: a discrete choice experiment.

BACKGROUND: Pregnancy tests can be used for the early diagnosis of fetal problems and can prevent abnormal birth in pregnancies. Yet, testing preferences among Chinese women are poorly investigated. METHODS: We developed a Discrete Choice Experiment with 5 attributes: test procedure, detection rate, miscarriage rate, time to wait for result, and test cost. By studying the choices that the women make in the hypothetical scenarios and comparing the attributes and levels, we can analyze the women's preference of prenatal testing in China. RESULTS: Ninety-two women completed the study. Respondents considered the test procedure as the most important attribute, followed by detection rate, miscarriage rate, wait time for result, and test cost, respectively. The estimated preference weight for the non-invasive procedure was 0.928 (P < 0.0001). All other attributes being equal, the odds of choosing a non-invasive testing procedure over an invasive one was 2.53 (95% confidence interval, 2.42-2.64; P < 0.001). Participants were willing to pay up to RMB$28,810 (approximately US$4610) for a non-invasive test, RMB$6061(US$970) to reduce the miscarriage rate by 1% and up to RMB$3356 (US$537) to increase the detection rate by 1%. Compared to other DCE (Discrete Choice Experiment) studies regarding Down's syndrome screening, women in our study place relatively less emphasis on test safety. CONCLUSIONS: The present study has shown that Chinese women place more emphasis on detection rate than test safety. Chinese women place great preference on noninvasive prenatal testing, which indicate a popular need of incorporating noninvasive prenatal testing into the health insurance coverage in China. This study provided valuable evidence for the decision makers in the Chinese government.

Analysis of the cost effectiveness of different strategies for the antenatal diagnosis of chromosomal aberrations in cases of ultrasound-identified fetal abnormalities.

OBJECTIVE: Principal objective of this work was to analyse the cost effectiveness of different sequences of cytogenetic techniques from the hospital's point of view, after prenatal ultrasound has identified fetal malformations. METHODS: Cytogenetic tests were performed for each case in 3 strategies, and their results are reported and compared to one reference strategy. Two new simulated strategies were considered: chromosomal microarrays alone and a direct test + CMA. MAIN OUTCOMES MEASURES: cost-effectiveness ratio. RESULTS: A single test result was positive in 234 of the 835 pregnancies studied (28%). CMA alone would have identified 239 abnormalities. In the simulated direct test + CMA sequence, the direct test alone would have been positive for 66.1% of the abnormalities identified. When testing was indicated for NT, reference strategy (Direct + karyotyping) costs 1 084.8 euros by positive test results. Strategies Direct + CMA and CMA alone cost respectively 992.7 and 550.0 euros by positive test results. For OUM indications, reference strategy costs 2 937.8 euros by positive test results. Strategies Direct + CMA and CMA alone cost respectively, 2 118.4 and 1 304.7 euros by positive test results. CONCLUSIONS: CMA appears to be the most effective test for prenatal cytogenetic diagnosis of fetal abnormalities identified by ultrasound.

Cost-Effectiveness Analysis of Point-of-Care Rapid Testing Versus Laboratory-Based Testing for Antenatal Screening of Syphilis in Brazil.

OBJECTIVES: Severe consequences of mother-to-child transmission of syphilis and high increasing incidence of congenital syphilis remains an important public health problem in Brazil. Our objective was to assess the cost-effectiveness of a rapid point-of-care test (RT) and treatment of positive mothers immediately compared with a laboratory-based standard test (ST) with treatment at next follow-up visit. METHODS: A decision analytic model was developed to estimate the incremental cost-effectiveness ratio (ICER) between antenatal syphilis screening strategies. The model was built with lifetime horizon from Brazilian health system perspective using 3% and 5% discount rates. A hypothetical cohort of pregnant women at reproductive age were used in the model. Health outcomes: low birth weight, stillbirths, neonatal deaths and congenital syphilis were estimated in disability-adjusted life-years (DALYs) lost. Microcosting study and secondary data provided parameters of direct medical costs. Probabilistic sensitivity analysis was undertaken. RESULTS: For base case, the mean cost per pregnant woman screened was $2.63 (RT) and $2.48 (ST), respectively. Maternal syphilis was associated with a loss of 0.0043 DALYs (RT) and 0.0048 DALYs (ST) per mother screened. Expected value of incremental cost per DALY averted was $298.08. After 10 000 probabilistic sensitivity analysis model runs, incremental cost and health benefits were $0.15 (95% credible interval -1.56 to 1.92) and 0.00042 DALYs (95% credible interval -0.0036 to 0.0044), respectively, with a mean ICER of $357.44 per DALY. Screening with RT has a 58% chance of being the optimal strategy at a threshold of $3,200 per DALY. CONCLUSIONS: In Brazil, antenatal screening with syphilis RT and immediate treatment is likely to be cost-effective compared with standard screening and must be prioritized in local settings.

Making the most of the first prenatal visit: The challenge of expanding prenatal genetic testing options and limited clinical encounter time.

OBJECTIVE: Advances in prenatal genetics place additional challenges as patients must receive information about a growing array of screening and testing options. This raises concerns about how to achieve a shared decision-making process that prepares patients to make an informed decision about their choices about prenatal genetic screening and testing options, calling for a reconsideration of how healthcare providers approach the first prenatal visit. METHODS: We conducted interviews with 40 pregnant women to identify components of decision-making regarding prenatal genetic screens and tests at this visit. Analysis was approached using grounded theory. RESULTS: Participants brought distinct notions of risk to the visit, including skewed perceptions of baseline risk for a fetal genetic condition and the implications of screening and testing. Participants were very concerned about financial considerations associated with these options, ranking out-of-pocket costs on par with medical considerations. Participants noted diverging priorities at the first visit from those of their healthcare provider, leading to barriers to shared decision-making regarding screening and testing during this visit. CONCLUSION: Research is needed to determine how to restructure the initiation of prenatal care in a way that best positions patients to make informed decisions about prenatal genetic screens and tests.

Noninvasive Prenatal Testing for Trisomies 21, 18, and 13, Sex Chromosome Aneuploidies, and Microdeletions in Average-Risk Pregnancies: A Cost-Effectiveness Analysis.

OBJECTIVE: The cost effectiveness of noninvasive prenatal testing (NIPT) has been established for high-risk pregnancies but remains unclear for pregnancies at other risk levels. The aim was to assess the cost effectiveness of NIPT in average-risk pregnancies from the perspective of a provincial public payer in Canada. METHODS: A model was developed to compare traditional prenatal screening (TPS), NIPT as a second-tier test (performed only after a positive TPS result), and NIPT as a first-tier test (performed instead of TPS) for trisomies 21, 18, and 13; sex chromosome aneuploidies; and microdeletions in a hypothetical annual population cohort of average-risk pregnancies (142 000 to 148,000) in Ontario, Canada. A probabilistic analysis was conducted with 5000 repetitions. RESULTS: Compared with TPS, NIPT as a second-tier test detected more affected fetuses with trisomies 21, 18, and 13 (188 vs. 158), substantially reduced the number of diagnostic tests (i.e., chorionic villus sampling and amniocentesis) performed (660 vs. 3107), and reduced the cost of prenatal screening ($26.7 million vs. $27.6 million) annually. Compared with second-tier NIPT, first-tier NIPT detected an additional 80 cases of trisomies 21, 18, and 13 at an additional cost of $33 million. The incremental cost per additional affected fetus detected was $412 411. Extending first-tier NIPT to include testing for sex chromosome aneuploidies and 22q11.2 deletion would increase the total screening cost. CONCLUSIONS: NIPT as a second-tier test is cost-saving compared with TPS alone. Compared with second-tier NIPT, first-tier NIPT detects more cases of chromosomal anomalies but at a substantially higher cost.

Universal screening for thyroid disease during pregnancy should be performed.

Thyroid disease can significantly impact the pregnant woman and her child. Human and animal studies have firmly linked overt hypothyroidism and overt hyperthyroidism to miscarriage, preterm delivery and other adverse pregnancy outcomes. Overt hypothyroidism and overt hyperthyroidism affect 1% of all pregnancies. Treatment is widely available, and if detected early, results in decreased rates of adverse outcomes. Universal screening for thyroid disease in pregnancy can identify patients with thyroid disease requiring treatment, and ultimately decrease rates of complications. Universal screening is cost-effective compared to the currently accepted practice of targeted screening and may even be cost-saving in some healthcare systems. Targeted screening, which is recommended by most professional associations, fails to detect a large proportion of pregnant women with thyroid disease. In fact, an increasing number of providers are performing universal screening for thyroid disease in pregnancy, contrary to society guidelines. Limited evidence concerning the impact of untreated and treated subclinical disease and thyroid autoimmunity has distracted from the core rationale for universal screening - the beneficial impact of detecting and treating overt thyroid disease. Evidence supporting universal screening for overt disease stands independently from that of subclinical and autoimmune disease. The time to initiate universal screening is now.