The Cost-Effectiveness of Congenital Adrenal Hyperplasia Newborn Screening in Brazil: A Comparison Between Screened and Unscreened Cohorts

Abstract

Background: Newborn screening for congenital adrenal hyperplasia (CAH-NBS) is not yet a worldwide consensus, in part due to inconclusive evidence regarding cost-effectiveness because the analysis requires an understanding of the short- and long-term costs of care associated with delayed diagnosis.Objective: The present study aimed to conduct a cost-effectiveness analysis (CEA) to compare the costs associated with CAH-NBS and clinical diagnosis.Methods: A decision model comparing the two strategies was tested by sensitivity analysis. The cost analysis perspective was the public health system. Unscreened patients' data were extracted from medical records of Hospital das Clinicas, Saõ Paulo, and screened data were extracted from the NBS Referral Center of São Paulo. The population comprised 195 classical patients with CAH, clinically diagnosed and confirmed by hormonal/CYP21A2 analysis, and 378,790 newborns screened during 2017. Adverse outcomes related to late diagnosis were measured in both cohorts, and the incremental cost-effectiveness ratio (ICER) was calculated. We hypothesized that CAH-NBS would be cost-effective.Results: Twenty-five screened infants were confirmed with CAH (incidence: 1:15,135). The mortality rate was estimated to be 11% in unscreened infants, and no deaths were reported in the screened cohort. Comparing the unscreened and screened cohorts, mean serum sodium levels were 121.2 mEq/L (118.3–124.1) and 131.8 mEq/L (129.3–134.5), mean ages at diagnosis were 38.8 and 17 days, and hospitalization occurred in 76% and 58% of the salt-wasting patients with the in the two cohorts, respectively. The NBS incremental cost was US$ 771,185.82 per death averted, which yielded an ICER of US$ 25,535.95 per discounted life-year saved.Conclusions: CAH-NBS is important in preventing CAH mortality/morbidity, can reduce costs associated with adverse outcomes, and appears cost-effective.

Need and Viability of Newborn Screening Programme in India: Report from a Pilot Study

“…A study conducted in the US estimated a benefit to cost ratio for G-6PDD screening ranging from 1.38–3.42 using quality-adjusted life year (QALY) methodology [ 57 ]. The reported studies on the cost effectiveness of newborn screening for CAH is conducted by comparing the cost in screened and unscreened CAH patients [ 58 , 59 , 60 , 61 ]. The benefit to cost ratio of newborn screening in India that we have calculated is much higher than the already reported studies of other countries, confirming that the implementation of newborn screening in India will not be an economic burden but raise the standard of health quality.…”

Impact of Newborn Screening on Clinical Presentation of Congenital Adrenal Hyperplasia

“…The timeline of the NBS is becoming earlier worldwide because of increasing numbers of inborn errors of metabolism added to the screening panel, requiring immediate intervention [17], and in the U.S. the recommended age in days when the first results were obtained should be seven days of life [18]. The median age at the time of positive screening results differs among countries-from 6 days in Japan [16] to 8.7 days in Sweden [19], 13 days in Texas [20] and 17 days in Brazil [21]. In Lithuania, the main reason for the delay of diagnosis was the delay in delivery of the NBS cards to the laboratory, clearly having significant implications and should be targeted to improve the clinical usefulness and effectiveness of the screening.…”

Newborn Screening: A Practical Guide to Pediatricians and Neonatologists

“…43 Data from Sri Lanka, 4 where the incidence of congenital hypothyroidism is similar to India, showed that the benefit far outweighs the cost of screening (benefit-to-cost ratio of 3.60). Similarly, the screening strategies for G6PD deficiency, 44 CAH, 3 sickle cell disease, 37 and expanded strategies using tandem mass spectroscopy 45 were all found to be cost-effective.…”

“…43 Data from Sri Lanka, 4 where the incidence of congenital hypothyroidism is similar to India, showed that the benefit far outweighs the cost of screening (benefit-to-cost ratio of 3.60). Similarly, the screening strategies for G6PD deficiency, 44 CAH, 3 sickle cell disease, 37 and expanded strategies using tandem mass spectroscopy 45 were all found to be cost-effective. Abbreviations: OAE, otoacoustic emissions; AABR, automated auditory brainstem response; G6PD, glucose-6-phosphate dehydrogenase; TCB, transcutaneous bilirubin; TMS, tandem mass spectroscopy; TSB, total serum bilirubin.…”

“…2 The disorders included in newborn screening may vary from place to place, primarily based on the burden of the disease/condition under consideration. Several studies have shown that newborn screening either for limited disorders 3, 4 or an extended panel 5 is cost-effective. However, it is important to note that, initiating a universal newborn screening program at national/regional levels involves a huge upfront investment.…”