COVID-19 impact on the diagnosis of Inborn Errors of Metabolism: Data from a reference center in Brazil

Sebastião, Fernanda Medeiros; Michelin‐Tirelli, Kristiane; Bender, Fernanda; Lopes, Franciele Fátima; Moraes, Inamara S.; Kubaski, Francyne; Giugliani, Roberto; Burin, Maira Graeff

doi:10.1590/1678-4685-gmb-2021-0253

Cited by 3 publications

(1 citation statement)

References 18 publications

(17 reference statements)

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“…The COVID-19 pandemic has had a profound effect on healthcare systems, including NBS services [ 10 ]. A decrease in the diagnosis of inherited metabolic disorders was reported, and missed cases are suspected in some centers [ 10 , 11 ]. On the other hand, some centers did not report any missed cases of inherited metabolic disorders by NBS [ 10 ].…”

Section: Introductionmentioning

confidence: 99%

Newborn Screening in a Pandemic—Lessons Learned

Mlinarič

Bonham

Kožich

et al. 2023

IJNS

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The COVID-19 pandemic affected many essential aspects of public health, including newborn screening programs (NBS). Centers reported missing cases of inherited metabolic disease as a consequence of decreased diagnostic process quality during the pandemic. A number of problems emerged at the start of the pandemic, but from the beginning, solutions began to be proposed and implemented. Contingency plans were arranged, and these are reviewed and described in this article. Staff shortage emerged as an important issue, and as a result, new work schedules had to be implemented. The importance of personal protective equipment and social distancing also helped avoid disruption. Staff became stressed, and this needed to be addressed. The timeframe for collecting bloodspot samples was adapted in some cases, requiring reference ranges to be modified. A shortage of essential supplies and protective equipment was evident, and laboratories described sharing resources in some situations. The courier system had to be adapted to make timely and safe transport possible. Telemedicine became an essential tool to enable communication with patients, parents, and medical staff. Despite these difficulties, with adaptations and modifications, some centers evaluated candidate conditions, continued developments, or began new NBS. The pandemic can be regarded as a stress test of the NBS under real-world conditions, highlighting critical aspects of this multidisciplinary system and the need for establishing local, national, and global strategies to improve its robustness and reliability in times of shortage and overloaded national healthcare systems.

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Section: Introductionmentioning

confidence: 99%

Newborn Screening in a Pandemic—Lessons Learned

Mlinarič

Bonham

Kožich

et al. 2023

IJNS

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Spatial analysis of birth defects in Brazil based on the human development index (HDI): an ecological study

Reis

Justino

Costa

et al. 2023

Preprint

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Globally, between 2–4% of live births present Birth Defects (BDs) each year. The highest rates of mortality and morbidity caused by BDs are in low and middle-income countries. In Brazil, they are the second cause of infant mortality. Therefore, the aim of this study is to report the spatial distribution of the incidence of BDs at birth and infant mortality rate due to BDs (IMR-BDs) with the Human Development Index (HDI), and the cases of infant hospitalizations in Brazil. Data were extracted from an anonymous public database, and geospatial analysis was performed using the Global Moran Index statistic. We applied the Kruskal-Willis test and the Dunn test for multiple comparisons between regions and states. We found over 11.4 million births, out of which 99,653 had BDs (incidence: 87.05/10,000 live births); 30,357 infant deaths from BDs were recorded (26.52/10,000 live births). The analysis of the spatial correlation between BDs and the HDI-2010 values for each region/state revealed a statistically significant association in two scenarios: incidence of BDs and IMR-BDs vs. HDI-2010 (p = 0.005). There was an average of 22,710 infant hospitalizations due to BDs, and the average cost for infant hospitalizations was USD $ 30,372.24. The data call attention for the need to establish services and surveillance for prevention and to improve the goals of reducing IMR-BDs and costs with child hospitalizations due to BDs. Detection of BDs at a spatiotemporal level and their geographic distributions are used to support public administrators in managing affected children.

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A Review of Disparities and Unmet Newborn Screening Needs over 33 Years in a Cohort of Mexican Patients with Inborn Errors of Intermediary Metabolism

Ibarra-González,

Fernández-Lainez,

Vela-Amieva

et al. 2023

IJNS

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Advances in an early diagnosis by expanded newborn screening (NBS) have been achieved mainly in developed countries, while populations of middle- and low-income countries have poor access, leading to disparities. Expanded NBS in Mexico is not mandatory. Herein, we present an overview of the differences and unmet NBS needs of a group of Mexican patients with inborn errors of intermediary metabolism (IEiM), emphasizing the odyssey experienced to reach a diagnosis. We conducted a retrospective observational study of a historical cohort of patients with IEiM from a national reference center. A total of 924 patients with IEiM were included. Although 72.5% of the diseases identified are detectable by expanded NBS, only 35.4% of the patients were screened. The mortality in the unscreened group was almost two-fold higher than that in the screened group. Patients experienced a median diagnostic delay of 4 months, which is unacceptably long considering that to prevent disability and death, these disorders must be treated in the first days of life. Patients had to travel long distances to our reference center, contributing to their unacceptable diagnostic odyssey. This study highlights the urgent need to have an updated, expanded NBS program with adequate follow up in Mexico and promote the creation of regional medical care centers. We also provide compelling evidence that could prove valuable to decision makers overseeing public health initiatives for individuals impacted by IEiM from middle- and low-income countries.

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COVID-19 impact on the diagnosis of Inborn Errors of Metabolism: Data from a reference center in Brazil

Cited by 3 publications

References 18 publications

Newborn Screening in a Pandemic—Lessons Learned

Newborn Screening in a Pandemic—Lessons Learned

Spatial analysis of birth defects in Brazil based on the human development index (HDI): an ecological study

A Review of Disparities and Unmet Newborn Screening Needs over 33 Years in a Cohort of Mexican Patients with Inborn Errors of Intermediary Metabolism

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