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This study analyzed the prevalence of complete neonatal screening (CNS) of children aged under 2 years in Brazil and associated factors using data from the 2013 (n=4,442) and 2019 (n=5,643) national health surveys. We conducted a cross-sectional study to compare prevalence of CNS (eye, ear and heel prick tests) adopting 95% confidence intervals (95%CI) and a 5% significance level. Crude and adjusted Poisson regression was performed to estimate prevalence ratios (PR) and 95%CI to assess the association between socioeconomic, demographic and health variables and CNS. There was a statistically significant increase in CNS prevalence, from 49.2% (95%CI: 47.1-51.3) in 2013 to 67.4% (95%CI: 65.5-69.3) in 2019. However, large disparities persist across states and between sociodemographic groups. In both years, CNS prevalence was lowest among brown and black children, those from families in the three lowest income quintiles, children without health insurance, those from families registered in the Family Health Strategy and children living in the North, cities outside the state capital/metropolitan regions and rural areas. Despite the increase in prevalence of CNS, deep individual and contextual inequalities persist, posing challenges for health policies. [ABSTRACT FROM AUTHOR]

The diagnosis of cystic fibrosis has improved in the last few years due to greater access to diagnostic tools and the evolution of molecular biology; the knowledge obtained has contributed to the understanding of its death profile. In this context, an epidemiological study was developed focusing on deaths from cystic fibrosis in Brazil from 1996 to 2019. The data were collected from the Data-SUS (Unified National Health System Information Technology Department from Brazil). The epidemiological analysis included patients' age groups, racial groups, and sex. In our data, between 1996 and 2019, Σ3050 deaths were recorded, totaling a ≅330% increase in the number of deaths resulting from cystic fibrosis. This fact might be related to a better diagnosis of the disease, mainly in patients from racial groups that are not commonly associated with cystic fibrosis, such as Black individuals, Hispanic or Latino (mixed individuals/Pardos) individuals, and American Indians (Indigenous peoples from Brazil). Regarding of race, the Σ of deaths was: nine (0.3%) in the American Indian group, 12 (0.4%) in the Asian group, 99 (3.6%) in the Black or African American group, 787 (28.6%) in the Hispanic or Latino group, and 1843 (67.0%) in the White group. The White group showed the highest prevalence of deaths, and the increase in mortality was ≅150 times in this group, while, in the Hispanic or Latino group, it was ≅75 times. Regarding sex, the numbers and percentage of deaths of both male (N = 1492; 48.9%) and female (N = 1557; 51.1%) patients were seen to be relatively close. As for age groups, the >60-year-old group presented the most significant results, with an increase of ≅60 times in the registered deaths. In conclusion, in Brazil, despite the number of deaths from cystic fibrosis being prevalent in the White group, it increased in all racial groups (Hispanic or Latino, Black or African American, American Indian, or Asian individuals) and was associated with older age. [ABSTRACT FROM AUTHOR]

Objective: To analyze the characteristics of cystic fibrosis ( CF) c are centers ( CFCCs) in Brazil. Methods: A questionnaire was sent to the coordinators of all 51 registered CFCCs between May and September of 2021. Results: The response rate was 100%. Southeastern Brazil is the region where most of the CFCCs in the country are located (21 centers; 41%), followed by the southern and northeastern regions (11 centers each; 21.5%), the central-western region (6; 12%), and the northern region (2; 4%). A total of 4,371 patients with CF were cared for in Brazil during the study period, ranging from 7 to 240 patients per center (mean, 86 patients/center; median, 75 patients/ center); 2,197 patients (50%) were cared for in centers in the southeastern region of the country, particularly in the state of São Paulo (33%), the remaining patients being treated in southern Brazil (1,014 patients, 23%), northeastern Brazil (665 patients, 15%), central-western Brazil (354 patients, 8%), and northern Brazil (141 patients, 4%). Overall, 47 centers (92%) reported having an incomplete multidisciplinary team; 4 (8%) lacked essential team members; 6 (12%) lacked a physical therapist; 5 (10%) lacked a dietitian; 17 (33%) lacked outpatient nursing care; 13 (25%) lacked outpatient social work services; 14 (27%) lacked a psychologist; and 32 (63%) lacked a clinical pharmacist. Seven CFCCs (14%) in the northern and northeastern regions of Brazil reported that the quality of newborn screening for CF was poor. All centers reported having difficulties in accessing CF medications. Conclusions: Brazilian CFCCs experience multiple problems, including inadequate staffing, infrastructure, testing, and medication supply. There is an urgent need to regulate the implementation of CF referral centers and an appropriate network structure for the diagnosis and follow-up of CF patients using optimal treatment recommendations. [ABSTRACT FROM AUTHOR]

Introduction The Brazilian neonatal screening program established in 2001 included the investigation of cystic fibrosis (CF) in the phase III of the program. For this purpose, the immunoreactive trypsin (IRT) measurement was added to the newborn screening test. The purpose of National Neonatal Screening Program is to reach 100% of live births in Brazil. The aim of this study was to analyze the coverage of neonatal Screening for Cystic Fibrosis (CF) in Brazil from 2008 to 2017. Materials and methods This is an ecological study design based on data collected from the Brazilian Outpatient Information System regarding the detection of IRT as a component of the heel stick test from 2008 to 2017. Moreover, we gathered data from the Brazilian Live Birth Information System referring to live births from 2008 to 2017. We calculated the coverage of IRT measurement for every 100 live births, using the number of IRT measurement procedures as the numerator and the number of live births stratified by federative units (states), as well as by the Brazilian regions as the denominator. These regions correspond to the divisions of the national territory based on criteria such as natural, social, cultural and economic aspects. Results From 2008 to 2017, the regions presented the following coverage medians: South (84.1%), Southeast (71.4%), Midwest (47.3%) Northeast (12.3%) and North (10.9%). In the analysis of federative units, in the years 2013 to 2017, Paraná and Distrito Federal presented the highest median of coverage (100%), while the states with the lowest median were Rio Grande do Norte (12.1%), Amazonas (16.8%) and Paraíba (27.5%). Highest coverage was found in the South region, where are located most of the states with high socioeconomic development and high supply of health services, while the lowest coverage was found in the North region, where are located manly the states with low socioeconomic development and low supply of health services. According to data from the Brazilian Ministry of Health, the universalization of neonatal screening for cystic fibrosis occurred in 2013, however, at the end of this year, most states in the North and Northeast regions had not registered IRT measurements in the Outpatient Information System. Conclusion Although the coverage of neonatal screening for CF has improved nationwide over the years of the study, the disparity in the coverage of IRT measurements at the interregional and interstate levels is notable. Systematic implementation of neonatal screening for cystic fibrosis with equity and access to the entire population is suggested, leading to a greater number of children benefiting from treatment and a better quality of life. [ABSTRACT FROM AUTHOR]

Introduction: Hearing is fundamental for the development of newborns. The Universal Neonatal Hearing Screening (UNHS) in Brazil seeks to detect hearing loss early to minimize the impact on the child’s hearing health. Some coping with underreporting of Sexually Transmitted Infections (STIs), such as congenital syphilis and HIV, are important, considering these situations are correlated with neonatal hearing loss. Objective: To assess the prevalence of congenital syphilis and HIV in newborns from two maternity hospitals in Greater Florianópolis and the impact on hearing, based on the results of the UNHS retest from 2018 to 2022. Methods: Retrospective cross-sectional study with secondary data of newborns treated at a SUS Hearing Health Care Service (SASA) between 2018 and 2022, referred for OAE and BAEP retests. Results: Of the 1211 newborns referred for retesting, 283 presented the investigated infections. Of these, 170 were diagnosed with congenital syphilis (59.86%), 105 were diagnosed with HIV (36.67%), and 8 with both infections (2.82%). When performing the retest, one newborn did not present a satisfactory auditory result, and the others passed when the OAE and BAEP tests were observed. Conclusion: UNHS is effective, and retests are fundamental in the screening and proper monitoring of the hearing health of newborns. Public health guidelines are evidenced, contributing to neonatal health and hearing health screening. [ABSTRACT FROM AUTHOR]

Brazil is a continent-size country with 203 million inhabitants, classified as a developing upper-middle-income country, although inequities remain significant. Most of the population is assisted by the public Unified Health System (SUS), along with a thriving private health sector. Congenital malformations are the second leading cause of infant mortality and chronic/genetic disorders and a significant burden in hospital admissions. The past two decades have been crucial for formalizing medical genetics as a recognized medical specialty in the SUS, as well as for implementing a new health policy by the Ministry of Health for comprehensive care for rare diseases. These public health policies had the broad support of the Brazilian Society of Medical Genetics and Genomics and patient organizations. Most comprehensive genetic services are concentrated in large urban centers in the South and Southeast regions of Brazil; with this new policy, new services throughout the country are progressively being integrated. The number of medical geneticists increased by 103% in a decade. Details on the policy and an overview of the availability of services, testing, human resources, newborn screening, research projects, patient organizations, and relevant issues regarding medical genetics in this vast and diverse country are presented.

Introduction: In highly multiracial populations with inadequate newborn screening, knowledge of the various phenotypic presentations of Cystic Fibrosis (CF) can help reach an early diagnosis. This study aims to describe phenotypes and genotypes at the time of CF diagnosis in a state in the Northeast Region of Brazil., Methods: Retrospective cross-sectional study. Clinical data were extracted from the medical records of CF patients. Clinical, laboratory, and genotypic characteristics were described for patients admitted to a tertiary referral center between 2007 and 2021., Results: Fifty-eight (58) patients were included in the study, 53.5% of whom were diagnosed through clinical suspicion. The median age at diagnosis was 4.7 months (IQR: 1.5-14.8 months). Five patients had false-negative results in the newborn screening. Faltering growth was the most frequent clinical manifestation. Bronchiectasis and a history of pneumonia predominated in those older than ten, while thinness, underweight, and electrolyte imbalances were more frequent in children under two. Sequencing of the CFTR gene identified 27 genotypes, with at least one class I-III variant in all patients, and nine variants that are rare, previously undescribed, or have uncertain significance (619delA, T12991, K162Q, 3195del6, 1678del > T, 124del123bp, 3121-3113 A > T). The most frequent alleles were p.Phe508del, p.Gly542*, p.Arg334Trp, and p.Ser549Arg., Conclusions: Malnutrition and electrolyte imbalances were the most frequent phenotypes for children < 2 years and were associated with genotypes including 2 class I-III variants. Rare and previously undescribed variants were identified. The p.Gly542*, p.Arg334Trp, and p.Ser549Arg alleles were among the most frequent variants in this population., (© 2024. The Author(s).)

Copyright of Saúde Coletiva is the property of MPM Comunicacao and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Purpose: To compare neonatal eye screening using the red reflex test (RRT) versus the wide‐field digital imaging (WFDI) system. Methods: Prospective cohort study. Newborns (n = 380, 760 eyes) in the Maternity Ward of Irmandade Santa Casa de Misericórdia de São Paulo hospital from May to July 2014 underwent RRT by a paediatrician and WFDI performed by the authors. Wide‐field digital imaging (WFDI) images were analysed by the authors. Validity of the paediatrician's RRT was assessed by unweighted kappa [κ] statistic, sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV). Results: While WFDI showed abnormalities in 130 eyes (17.1%), RRT was only abnormal in 13 eyes (1.7%). Wide‐field digital imaging (WFDI) detected treatable retina pathology that RRT missed including hyphema, CMV retinitis, FEVR and a vitreous haemorrhage. The sensitivity of the paediatrician's RRT to detect abnormalities was poor at 0.77% (95% confidence interval, CI, 0.02%–4.21%) with a PPV of only 7.69% (95% CI, 1.08%–38.85%). Overall, there was no agreement between screening modalities (κ = −0.02, 95% CI, −0.05 to 0.01). The number needed to screen to detect ocular abnormalities using WFDI was 5.9 newborns and to detect treatable abnormalities was 76 newborns. Conclusion: While RRT detects gross abnormalities that preclude visualization of the retina (i.e. media opacities and very large tumours), only WFDI consistently detects subtle treatable retina and optic nerve pathology. With a higher sensitivity than the current gold standard, universal WFDI allows for early detection and management of potentially blinding ophthalmic disease missed by RRT. [ABSTRACT FROM AUTHOR]

Objective: To analyze the prevalence evolution of Guthrie, hearing, and eye screening testing among newborns in Brazil, between 2013 and 2019, according to demographic and socioeconomic characteristics., Methods: This is a cross-sectional study with data from 5231 infants from the Pesquisa Nacional de Saúde (PNS), in 2013, and 6637 infants, in 2019, for the Guthrie test, hearing, and red reflex tests. The authors analyzed the outcomes according to the region of residence, self-reported color/race, having health insurance, and per capita household income. By using bivariate and multivariate Poisson regression models, the prevalence ratios and their respective 95 % Confidence Intervals (CI 95 % ) were calculated for each year., Results: In 2013, Guthrie test, hearing, and red reflex tests were performed in 96.5 % ( 95 % CI 95,8;97,0), 65.8 % ( 95 % CI 63,9;67,7), and 60.4 % ( 95 % CI 77,1;79,9) in the red reflex test. The testing frequency was higher among residents of the Southeast and South regions of Brazil, among infants whose mother or guardian was white, had health insurance, and was in the higher income strata; and the most evident differences were in the eye and hearing testing.95 % CI 97,3;98,2) in the Guthrie test, 81.6 % ( 95 % CI 80,3;82,9) in the hearing test, and 78.6 % ( 95 % CI 77,1;79,9) in the red reflex test. The testing frequency was higher among residents of the Southeast and South regions of Brazil, among infants whose mother or guardian was white, had health insurance, and was in the higher income strata; and the most evident differences were in the eye and hearing testing., Conclusions: The coverage inequalities according to the region of residence, income, and having health insurance highlight the need to use strategies that enable exams to be carried out, with more information about their importance, encompassing actions from primary care, prenatal care to the puerperium, aiming at universal access and equity., Competing Interests: Conflicts of interest The authors declare no conflicts of interest., (Copyright © 2023 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.)

Objective: to analyze the prevalence of diseases diagnosed by neonatal screening in a region of Mato Grosso, Brazil. Method: descriptive and quantitative study, with analysis of neonatal screening of 4057 newborns in municipalities of Mato Grosso, using secondary data from the state neonatal screening service in the state. Results: among diagnosed patients, there was a prevalence of congenital hypothyroidism (1:1014), cystic fibrosis (1:2029), phenylketonuria (1:4057) and sickle cell anemia (1:4057). Conclusion: the percentage of neonatal screening coverage in the studied region was considered below the average for this state and country. The most common diseases were congenital hypothyroidism and cystic fibrosis. [ABSTRACT FROM AUTHOR]

Toxoplasma gondii can cross the placental barrier, causing fetal infection with potentially severe sequelae. The aim of this study was to evaluate whether the serological screening for toxoplasmosis should be included in the basic neonatal heel prick test in order to establish criteria for the confirmation and/or exclusion of the diagnosis of congenital infection in newborns treated at three public health units in the metropolitan region of Goiania, Goias State, Brazil. Blood samples were collected on filter paper from newborns and later, peripheral blood samples from the mothers and their respective children were obtained to confirm or exclude the diagnosis of suspected congenital infection, by means of an enzyme-linked immunosorbent assay (IgM and IgG) and a polymerase chain reaction assay. From a total of 1,159 blood samples collected on filter paper, 43.92% were reactive to IgG and 0.17% to anti-T. gondii IgM and IgG. One hundred and twenty-seven paired samples (mother and child) were collected following consensual protocols for peripheral blood collection. Results obtained from the filter paper and peripheral blood of the newborns were 90.55% concordant. A comparison of the mother and child blood test results showed agreement regarding the detection of IgG in 90.48% of the samples. The parasite DNA was detected in the peripheral blood of one child. In view of the results obtained in this study, the inclusion of the serological screening for toxoplasmosis in the newborn heel prick test proved to be effective for the early detection of congenital T. gondii infection. [ABSTRACT FROM AUTHOR]

Introduction: Gestational SARS-CoV-2 affects maternal and neonatal health. At birth, neonates are isolated and tested as recommended by the national health council. During this period, universal neonatal hearing screening is performed in the maternity ward, before hospital discharge, through examinations of transient evoked otoacoustic emissions (TOAE) and brainstem auditory evoked potential in automatic mode (BERA-a). Objective: To verify the results of newborn hearing screening of newborns born to SARS-CoV-2 positive mothers. Method: This is a cross-sectional, retrospective, analytical and descriptive study with data obtained from records from the speech therapy service of a public maternity hospital in southern Brazil. The study refers to newborns born to mothers diagnosed with Covid-19, confirmed by PCR-RTC, who underwent hearing screening between January 2022 and May 2022. Results: Of 2,593 newborns screened during the study period, 39 were children of mothers diagnosed with Covid-19. Of the 39 (1.50%) newborns who tested for Covid-19, 36 (92.30%) passed bilaterally and 3 (7.70%) failed TANU, with 2 neonates who failed in the left ear (LE) and 1 bilaterally. After the retest, 1 (2.56%) was referred for audiological diagnosis, as the left ear continued to fail. Conclusion: The TANU results demonstrate that the ante and perinatal presence of the maternal diagnosis of SARS-CoV-2 in isolation does not suggest as an indicator of risk for hearing loss. [ABSTRACT FROM AUTHOR]

Background: Unidentified hearing loss at birth can badly affect the linguistic, social, and educational development of children. National and international committees on infant hearing emphasize the importance of early identification of hearing loss, with follow-up and early intervention. The aim of this study was to analyze data on hearing development from a program following up exits from the Neonatal Intensive Care Unit (NICU) and from neonatal intermediate care wards in Prof. Dr. Jose Aristodemo Pinotti Womens Hospital in the Brazilian State of Sao Paulo. Material and methods: This was a retrospective study based on records from a follow-up program. Data came from records collected from 2012 to 2015 on 88 subjects, and included the results of behavioral hearing tests, visual reinforcement audiometry and tympanometry. The data were descriptively and statistically analyzed. Results: Changes in the development of hearing abilities over the first two years of life in children that stayed at the NICU or the intermediate care ward for more than 48 hours were significant. However, late-onset or progressive hearing losses were not observed. There was no correlation between hearing development and specific risk indicators or with tympanometry. Conclusions: For the analyzed program, progressive or late-onset losses were not found, but there were major delays in the development of hearing abilities in the first two years of life for children from NICU and neonatal intermediate care wards. [ABSTRACT FROM AUTHOR]

Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder associated with inborn errors of steroid metabolism. 21-hydroxylase enzyme deficiency occurs in 90 to 95% of all cases of CAH, with accumulation of 17 hydroxyprogesterone (17-OHP). Early diagnosis of CAH based on newborn screening is possible before the development of symptoms and allows proper treatment, correct sex assignment, and reduced mortality rates. This study describes the results obtained in the first year of a public CAH screening program in the state of Rio Grande do Sul, Brazil.Methods: We reviewed the screening database in search of babies with suspected CAH, that is, altered birth-weight adjusted 17-OHP values at screening. The following data were analyzed for this population: screening 17-OHP values, retest 17-OHP values, serum 17-OHP values for those with confirmed CAH on retest, maternal and newborn data, and family history of CAH. For the screening program, 17-OHP levels are determined on dried blood spots obtained in filter paper with GSP solid phase time-resolved immunofluorescence.Results: Of 108,409 newborns screened, eight were diagnosed with CAH (four males, four females). The incidence of CAH in the state was 1:13,551. Six cases were identified as classic salt-wasting CAH and two were cases of virilizing CAH. The positive predictive value (PPV) of the initial screening (before diagnostic confirmation) was 1.6%. The overall rate of false positive results was 0.47%. The number of false positive results was higher among newborns with birth weight < 2000 g.Conclusion: The present results support the need for CAH screening by the public health care system in the state, and show that the strategy adopted is adequate. PPV and false positive results were similar to those reported for other states of Brazil with similar ethnic backgrounds. [ABSTRACT FROM AUTHOR]

Objective: To determine the incidence of congenital hypothyroidism (CH) over a 10-year period at the Reference Service in Neonatal Screening of the state of Rio Grande do Sul (RSNS-RS)., Subjects and Methods: Historical cohort study including all newborns screened for CH by the RSNS-RS from January 2008 until December 2017. Data of all newborns with neonatal TSH (neoTSH; heel prick test) values ≥ 9 mIU/L were collected. According to neoTSH values, the newborns were allocated into two groups: Group 1 (G1), comprising newborns with neoTSH ≥ 9 mIU/L and serum TSH (sTSH) < 10 mIU/L, and Group 2 (G2), comprising those with neoTSH ≥ 9 mIU/L and sTSH ≥ 10 mIU/L., Results: Of 1,043,565 newborns screened, 829 (0.08%) had neoTSH values ≥ 9 mIU/L. Of these, 284 (39.3%) had sTSH values < 10 mIU/L and were allocated to the G1 group, while 439 (60.7%) had sTSH ≥ 10 mIU/L and were allocated to the G2 group, and 106 (12.7%) were considered missing data. The overall incidence of CH was 42.1 per 100,000 newborns screened (95% confidence interval [CI] 38.5-45.7/100,000) or 1:2377 screened newborns. The sensibility and specificity of neoTSH ≥ 9 mIU/L were 97% and 11%; of neoTSH 12.6 mUI/L, 73% and 85% respectively., Conclusion: In this population, the incidence of permanent and transitory CH was 1:2377 screened newborns. The neoTSH cutoff value adopted during the study period showed excellent sensibility, which matters for a screening test.

Objective: Congenital hypothyroidism (CH) can be permanent (PCH) or transient (TCH). While the importance of thyroxine in myelination of the brain is undisputed, the benefits to neurodevelopmental outcomes of TCH treatment are controversial. Our objectives were to determine predictive factors for PCH and verify its prevalence changes over time., Subjects and Methods: A total of 165 children were evaluated at 3 years of age to verify the diagnosis of PCH. 130 were submitted to a two-step cluster analysis, with the aim of grouping them into homogeneous clusters. The mean incidence of PCH and TCH was calculated from 2004 to 2010 and 2011 to 2015., Results: Sixty-six children were diagnosed with PCH, and 99 were diagnosed with TCH. Eighty-one percent of PCH children and all TCH children with thyroid imaging had glands in situ . Eighty children (61.5%) were in Cluster 1, 8 children (6.2%) were in Cluster 2 and 42 children (32.3%) were in Cluster 3. No children had PCH in Cluster 1, while 87.5% of children in Cluster 2 and all children in Cluster 3 had PCH. The most important predictor for PCH was the initial serum TSH, which was marginally higher in importance than the blood spot TSH, followed by the initial serum free T4. The mean incidence of PCH (odds ratio: 1.95, 95% CI 1.36 to 2.95, p < 0.0001) and TCH (odds ratio 1.33, 95%, CI 1.02 to 1.77, p = 0,038) increased over time., Conclusion: The most important PCH predictors are the initial serum TSH and the blood spot TSH. The mean incidence of both PCH and TCH in our series increased.

Objective: To analyze the characteristics of cystic fibrosis (CF) care centers (CFCCs) in Brazil., Methods: A questionnaire was sent to the coordinators of all 51 registered CFCCs between May and September of 2021., Results: The response rate was 100%. Southeastern Brazil is the region where most of the CFCCs in the country are located (21 centers; 41%), followed by the southern and northeastern regions (11 centers each; 21.5%), the central-western region (6; 12%), and the northern region (2; 4%). A total of 4,371 patients with CF were cared for in Brazil during the study period, ranging from 7 to 240 patients per center (mean, 86 patients/center; median, 75 patients/center); 2,197 patients (50%) were cared for in centers in the southeastern region of the country, particularly in the state of São Paulo (33%), the remaining patients being treated in southern Brazil (1,014 patients, 23%), northeastern Brazil (665 patients, 15%), central-western Brazil (354 patients, 8%), and northern Brazil (141 patients, 4%). Overall, 47 centers (92%) reported having an incomplete multidisciplinary team; 4 (8%) lacked essential team members; 6 (12%) lacked a physical therapist; 5 (10%) lacked a dietitian; 17 (33%) lacked outpatient nursing care; 13 (25%) lacked outpatient social work services; 14 (27%) lacked a psychologist; and 32 (63%) lacked a clinical pharmacist. Seven CFCCs (14%) in the northern and northeastern regions of Brazil reported that the quality of newborn screening for CF was poor. All centers reported having difficulties in accessing CF medications., Conclusions: Brazilian CFCCs experience multiple problems, including inadequate staffing, infrastructure, testing, and medication supply. There is an urgent need to regulate the implementation of CF referral centers and an appropriate network structure for the diagnosis and follow-up of CF patients using optimal treatment recommendations.

Introduction: The Brazilian Policy for Comprehensive Care for People with Rare Diseases (BPCCPRD) was published in 2014, accrediting several reference centers and incorporating many genetic tests for the diagnosis of rare diseases (RDs). The Brazilian Network of Rare Diseases (RARAS) comprises more than 40 institutions that offer diagnosis and treatment for RDs in Brazil. This network includes Reference Services for Rare Diseases (RDRS), Reference Services for Newborn Screening (NSRS), and University Hospitals distributed in all Brazilian regions., Objective: The aim of the study was to map the availability and distribution of the BPCCPRD diagnostic procedures in the Brazilian Unified Health System through RARAS., Method: Data were collected through a questionnaire on the Research Electronic Data Capture platform, with 22 questions regarding the availability of procedures. Thirty-seven coordinators from RARAS participating centers received the questionnaire link for participation by email from August/2020 to March/2021. All participating institutions ethically approved this project., Results: Of the 37 institutions, 23 (62.16%) offered cytogenetic tests, 20 (54.05%) offered molecular procedures, and 22 (59.46%) offered inborn errors of metabolism diagnostic tests. The Southern blot analysis, enzyme assays on cultured tissue and urinary organic acid tests had the highest outsourcing rate. On the other hand, the procedures most frequently performed on-site were bone marrow karyotype and long-term cultured karyotype. It was observed that 10 of the 37 centers (27%) did not provide access to investigated procedures (on-site or outsourced). The North and Midwest regions stood out in terms of the unavailability of such techniques in at least 40% of the evaluated institutions., Discussion and Conclusion: This study reveals large discrepancies in the supply of diagnostic procedures in the Brazilian territory. Moreover, there is a broad collaboration between services through the outsourcing of multiple diagnostic techniques to address this issue. Finally, this work corroborates the importance of mapping services for the diagnosis and treatment of individuals with RDs to propose actions for the better supply and distribution of these procedures., (© 2023 The Author(s). Published by S. Karger AG, Basel.)

Copyright of Jornal de Pediatria is the property of Sociedade Brasileira de Pediatria and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective: To estimate the association between congenital syphilis and neonatal hearing screening failure in the state of Santa Catarina between 2017 and 2019., Methods: This is a cross-sectional, retrospective, analytical study with secondary data of neonates from the state of Santa Catarina born between January 2017 and December 2019. We used logistic regression analysis to estimate the association between the main exposure (congenital syphilis) and the study outcome (failure in the Neonatal Hearing Screening)., Results: The study included 21,434 newborns evaluated in a Brazilian hearing health care service. A total of 351 (1.6%) newborns failed the Neonatal Hearing Screening, and 364 (1.7%) had congenital syphilis. In the adjusted analysis, newborns with congenital syphilis were 3.25 times as likely to fail the Neonatal Hearing Screening as neonates without this disease (95% CI: 2.01; 5.26). As for maternal age, the sample had a higher prevalence (53.5%) of mothers aged 20-29 years., Conclusion: There was an association between congenital syphilis and failure in Universal Neonatal Hearing Screening in the sample studied. There is a need for investments in public policies to value and strengthen the hearing screening program in the state to provide early diagnosis and intervention., (Copyright © 2021 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.)

Severe combined immunodeficiency, SCID, is a pediatric emergency that represents the most critical group of inborn errors of immunity (IEI). Affected infants present with early onset life-threatening infections due to absent or non-functional T cells. Without early diagnosis and curative treatment, most die in early infancy. As most affected infants appear healthy at birth, newborn screening (NBS) is essential to identify and treat patients before the onset of symptoms. Here, we report 47 Brazilian patients investigated between 2009 and 2020 for SCID due to either a positive family history and/or clinical impression and low TRECs. Based on clinical presentation, laboratory finding, and genetic information, 24 patients were diagnosed as typical SCID, 14 as leaky SCID, and 6 as Omenn syndrome; 2 patients had non-SCID IEI, and 1 remained undefined. Disease onset median age was 2 months, but at the time of diagnosis and treatment, median ages were 6.5 and 11.5 months, respectively, revealing considerable delay which affected negatively treatment success. While overall survival was 51.1%, only 66.7% (30/45) lived long enough to undergo hematopoietic stem-cell transplantation, which was successful in 70% of cases. Forty-three of 47 (91.5%) patients underwent genetic testing, with a 65.1% success rate. Even though our patients did not come from the NBS programs, the diagnosis of SCID improved in Brazil during the pilot programs, likely due to improved medical education. However, we estimate that at least 80% of SCID cases are still missed. NBS-SCID started to be universally implemented in the city of São Paulo in May 2021, and it is our hope that other cities will follow, leading to early diagnosis and higher survival of SCID patients in Brazil., (© 2022. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Objective: To determine the prevalence of hearing loss and to analyze the results of newborn hearing screening and audiological diagnosis in private health care systems. Methods: Cross-sectional and retrospective study in a database of newborn hearing screening performed by a private clinic in neonates born in private hospitals of Porto Velho, Rondônia, Northern Brazil. The screening results, the risk for hearing loss, the risk indicators for hearing loss and the diagnosis were descriptively analyzed. Newborns cared in rooming in with their mothers were compared to those admitted to the Intensive Care Unit regarding risk factors for hearing loss. Results: Among 1,146 (100%) enrolled newborns, 1,064 (92.8%) passed and 82 (7.2%) failed the hearing screening. Among all screened neonates, 1,063 (92.8%) were cared in rooming and 83 (7.2%) needed intensive care; 986 (86.0%) were considered at low risk and 160 (14.0%) at high risk for hearing problems. Of the 160 patients identified as having high risk for hearing loss, 83 (37.7%) were admitted to an hospitalized in the Intensive Care Unit, 76 (34.5%) used ototoxic drugs and 38 (17.2%) had a family history of hearing loss in childhood. Hearing loss was diagnosed in two patients (0.2% of the screened sample). Conclusions: The prevalence of hearing loss in newborns from private hospitals was two cases per 1,000 evaluated patients. The use of ototoxic drugs, admission to Intensive Care Unit and family history of hearing loss were the most common risk factors for hearing loss in the studied population. [ABSTRACT FROM AUTHOR]

Objective: To estimate the budget impact of portable wide-field digital imaging incorporation on screening neonatal causes of childhood blindness and visual impairment in Rio de Janeiro, Brazil., Design: Budget impact analysis., Setting: Rio de Janeiro, Brazil., Primary and Secondary Outcome Measures: The primary outcome was the direct cost of indirect binocular ophthalmoscopy, red reflex test and portable wide-field digital image screening comprising all babies born in Rio de Janeiro's government maternity wards. The secondary outcome was the budget impact of implementing portable wide-field digital image screening in Rio de Janeiro, Brazil., Results: Considering 100% coverage of maternity wards, the total budget impact between 2020 and 2024 would be US$3 820 706.04, ranging from US$3 139 844.34 to US$6 099 510.35. The additional cost would be US$3 124 457.28, ranging from US$2 714 492.26 to US$4 880 608.63., Conclusion: The cost of universal digital imaging screening corresponds to less than 1% of the government health budget of the city of Rio de Janeiro. The information provided in this study may help government decision-makers evaluate the feasibility of implementing this new strategy in the municipal setting. Further health economic evaluations should be performed to verify the affordability of the implementation of this screening strategy in the Brazilian scenario, taking into account scarce human resources., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

Objectives: evaluate the Structure and process of collection centers with focus on Specimen collection, u transportation of tests and active search in the state of Rio de Janeiro's Neonatal Screening Program (PTN-RJ). Methods: 66 of the 422 collection centers were chosen, according to type, location and workload volume. The evaluation tool employed during the a research included: semi-structured questionnaires, guidelines for direct observation and document review. Scores were generated for both structure and process components assessment at each collection d center. Median scores were then calculated, evaluated for internal analytical consistency, score correlation between structure and process components. Results: the overall median score (maximum of 100) was 69.1 (variation: 50.5-86.6) for structure and e 63.9 (variation 46.9-77.4) for process components. The performance of each collection center showed A consistency among centers with similar structure. Maternity centers and Family Health Program Units C (PSF) showed superior performance in their process components, with collection centers type B (UCB) (showing lower performance with the same group of components. The Cronbach alpha coefficient indicated a high consistency of among the assessment tools for structure (alpha= 0.93) and process components (alpha=0.81). The structure and process components scores showed weak correlation (Pearson coefficient = 0.44; Spearman = 0.42). Differences in mean scores among types of collection center showed considerable magnitude, but without statistical significance (p0.387). Conclusions: the overall performance in structure A and process components was satisfactory. Deficiencies were found in professional training and in availability of specimen collection and educational material. [ABSTRACT FROM AUTHOR]

Purpose: To analyze the reasons for evasion of the families from the newborn hearing screening program conducted at a public hospital, and to correlate them with the demographic distribution of the families and the characteristics of the program. Methods: Participants were 132 families, from a total of 739 contacted, whose children had been born in a maternity hospital in the interior of the state of São Paulo, Brazil, from October/2003 to December/2005, and who had not showed up for the newborn hearing screening test or retest. A questionnaire regarding the causes for evasion was applied, asking information related to the newborn hearing screening, level of education and occupation of parents, and the child's hearing and language development. Results: The questionnaire was applied to 132 families (17.86%); contact was not possible with the other families. From this total, 82 had not shown up in the first stage of the hearing screening (test), and 50 had not returned for retest. The most frequently provided reasons for the evasion were lack of interest and scheduling conflicts. There was no association between the reasons for the evasion and parent's education level and occupation, nor with the professional who provided orientation regarding the newborn hearing screening. Hearing alteration were not referred, as well as significant language development delay. Conclusion: The reasons for family evasion are independent from variables related to the family and the dynamics of the hearing screening program. [ABSTRACT FROM AUTHOR]

Purpose: to describe the population of high risk newborns referred for a hearing screening program at a selective hearing health service, as well, to characterize and compare the group of infants who attended the screening (group I) and the other of infants who did not attend the screening (group II). Method: we performed a prospective study in a child hearing center. The sample consisted of 55 infants under high risk at a maternity hospital in Sao Paulo. The methodology included the examination of medical records and interviews with the mothers. We studied the age at the hospital, hearing screening, diagnosis, time between hospital discharge and screening, the time between hospital discharge and diagnosis and, finally, the time between screening and diagnosis. We compared the socioeconomic and cultural groups and the risk factors. Results: 55 infants were referred to the attendance and hearing screening was 76% (42). The mean age of hospital discharge was 38 days, the hearing screening was 42 days and the diagnosis was 95.1 days. The mean time between the discharge and screening was 13 days, between the discharge and the diagnosis was 40.8 days. The group attending the screening had lower weight, longer ICU stay, and greater number of risk factors, higher family income per person and more prenatal care than those who did not attend it. Conclusions: the children who showed greater adherence to the implementation of selective newborn hearing screening were those whose mothers attended a greater number of pre-natal cares, those that had increased incidence of risk factors, longer hospitalization and when the information in the maternity ward were more effective. [ABSTRACT FROM AUTHOR]

Purpose: To describe the results obtained in a newborn hearing screening program in the city of Cuiabá (MT), Brazil, in the period from 2009 to 2010. Methods: We analyzed the otoacoustic emissions results of 1964 low-risk and 123 high-risk newborns, archived in the computer of the service, regarding the amount of those who passed or failed the screening. Results: In the low-risk group, 94.5% passed, 1.2% failed and 4.3% did not return for re-test. In the high-risk group, 71.54% passed, 3.2% failed and 25.4% did not return for re-test. Conclusion: The results obtained by the program are in agreement with the expectations of international and national institutions. [ABSTRACT FROM AUTHOR]

The aim of this study was to investigate the results of the red reflex test and to associate these results with neonatal variables. This descriptive study was conducted with 190 newborns in a public maternity hospital. A total of 187 infants presented no alteration and three presented suspect results. Different shades of reflex color were observed: 50 (26.3%) presented red; 34 (17.9%) orange-red, 92 (48.4%) orange, 11 (5.8%) light yellow and three (1.6%) milky white spots. Statistically significant associations between the color gradient instrument and neonatal variables were found: weight (p=0.03), gestational age (p=0.019) and oxygen therapy (p=0.024). Nurses trained to practice and evaluate this test may become professionals in the potential for the prevention of childhood blindness. [ABSTRACT FROM AUTHOR]

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Objectives. To evaluate the geographic distribution of human T-lymphotropic virus types 1 and 2 (HTLV-1/2) in the State of Minas Gerais, Brazil, in puerperal women whose newborns were tested for HTLV-1/2 during neonatal screening, and to overlap seropositivity with social and economic status determinants. Methods. During September-November 2007, the dry-blood samples taken from newborns on filter paper for routine screening were also tested for maternal IgG anti-HTLV-1/2 antibodies. For reactive samples, the mothers of the newborns had blood drawn to test for these viruses. Results. The study analyzed 55 293 specimens taken from newborns. Of these, 52 (9.4 per 10 000) were reactive and 42 mothers (7.6 per 10 000) were confirmed with HTLV-1/2 infection. HTLV-1/2 geographic distribution was heterogeneous, with a tendency to be higher in the North and North-East parts of Minas Gerais. The highest rates of seropositivity were observed in Vale do Mucuri (55.9 per 10 000) and in Jequitinhonha (16.0 per 10 000), overlapping with the State's worst social and economic indicators. Conclusions. To our knowledge this was the first time that neonatal screening for HTLV-1/2 was performed in Brazil. This model could be used in other areas with high HTLV-1/2 prevalence rates. The detection of carrier mothers can enable intervention measures, such as providing infant formula to newborns, to be implemented expeditiously to reduce vertical transmission. [ABSTRACT FROM AUTHOR]

Objectives: to determine the incidence of hearing impairment in newborns, at a private maternity hospital in the city of São Paulo. Methods: a cross-sectional cohort study was carried out covering the period between 2004 and 2008, at a maternity hospital located in the southern zone of the city of São Paulo, including 20,615 newborns of both sexes, with no risk factors for hearing impairment and who had undergone neonatal auditory screening. The test was carried out using the Evoked Transient Otoacoustic Emissions test. Patients who failed both phases of this test were referred to do a Brainstem Auditory Evoked Potential test to confirm the presence of neonatal auditory deficiency. Fischer's exact test was used with a level of significance of 0.05 or p<0.05. Results: the incidence of neonatal hearing impairment found in this study was 1.2/1000. Conclusion: state legislation allows neonatal auditory screening to be more effective in achieving early detection of neonatal hearing impairment. Neonatal auditory screening prevents future impairment of oral development and language acquisition in a social, professional and educational context. [ABSTRACT FROM AUTHOR]

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The goal of the present study was to provide a complete and updated spectrum of cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene mutations in the Brazilian population combining all available in silico data for patients with CF in Brazil, including founder background and migration flow that consisted of the actual genetic pool of the Brazilian population. Information sources in international databases (PUBMED and SCIELO) were searched. The Brazilian population shows a wide variation in the frequency of CFTR mutations in states Rio Grande do Sul (RS), Santa Catarina (SC), Paraná (PR), São Paulo (SP), Rio de Janeiro (RJ), Minas Gerais (MG), Pará (PA) and Bahia (BA); this variation includes the most common mutation p.F508del. Apparently, this frequency variation is because of the different ethnic compositions. States such as SC and PR have a greater European admixture with almost 90% of CF alleles identified. In other states, such as BA, higher frequency of alleles that are common among African populations is seen. Overall, the CFTR mutational spectrum indicates the presence of European, African and Amerindian ethnic groups in the contemporary Brazilian CF patients. Here, we present an analysis of the CFTR allelic heterogeneity and discuss the origin of its genetic composition, in an attempt to provide improved perspective for the CF population screening in Brazil and genetic counseling. [ABSTRACT FROM AUTHOR]

Purpose: to know the index of babies who failed in the EOAET diagnosis process in the Universal Neonatal Auditory Scan Program of an public hospital in Campinas, São Paulo, Brazil. Methods: the sample is composed of 1146 protocols of babies evaluated in the Universal Neonatal Auditory Scan Program in this hospital, in the period of July 2007 to April 2008. Results: Universal Neonatal Auditory Scan presented effectiveness of 69.4%, although the retest of the babies that failed in the EOAET diagnosis have shown that the success in the follow up process goes down significantly. From the total of the sample, 11 babies were suspected to have auditory loss and four had some alteration. Conclusion: data suggesting that the program needs to be improved. [ABSTRACT FROM AUTHOR]

Purpose: to check the practice of newborn hearing screening in Curitiba-PR. Methods: a survey was initially conducted to check the number of existing maternities and hospitals with maternities included in the National Register of Health's Establishments. We found that 59 hospitals were registered; three are maternities and 18 are hospitals that include a maternity. We asked each of the professionals in charge for the institution if some kind of newborn hearing screening was conducted and, for those who had the service, a questionnaire was given in order to collect information on the program. Results: we found that 23.8% of the institutions perform newborn hearing screening. In 20% of them, this service is universal for full term babies, while in 80% of them it is available for premature/high risk babies. All of the services use Transient Evoked Otoacoustic Emissions (TEOAE). Conclusion: we concluded that the Brazilian law number 14588 - 22/12/2004 is not being followed. Despite of the need and the importance for early detection of hearing loss, hearing screening is not accomplished in all maternities. In places where such screening takes place, it is not universal. [ABSTRACT FROM AUTHOR]

The article discusses the results of a study on a neonatal screen program in Brazil for the diagnosis of primary hypothyrodism using thyroid stimulating hormone (TSH) testing. The study involved 190 newborns which found that the use of TSH had an acceptable rate of missed congenital hypothyroidism. It can also lessen false negative results without increasing the cost of the screening program.

Simple Summary: Adrenocortical tumor (ACT) is rare in children and fatal if not detected early. Children who inherit a mutation of the TP53 gene tend to develop ACT early in life. In the 1990s, scientists revealed that a TP53 variant (R337H) was frequent in South Brazil. Therefore, the incidence of ACT in children is 20 times higher in this region than in other countries. We reviewed the records of 16 children with ACT treated in a pediatric hospital in Parana state (southern Brazil) and 134 children registered in the state public registry data. We found a high number of cases with advanced disease, leading to an unacceptable number of deaths. These observations contradict newborn R337H screening and surveillance data, showing that surgical intervention in early cases of ACT is associated with a 100% cure. Newborn screening/surveillance should be implemented in regions with a high frequency of the R337H variant. The incidence of pediatric adrenocortical tumors (ACT) is high in southern Brazil due to the founder TP53 R337H variant. Neonatal screening/surveillance (NSS) for this variant resulted in early ACT detection and improved outcomes. The medical records of children with ACT who did not participate in newborn screening (non-NSS) were reviewed (2012–2018). We compared known prognostic factors between the NSS and non-NSS cohorts and estimated surveillance and treatment costs. Of the 16 non-NSS children with ACT carrying the R337H variant, the disease stages I, II, III, and IV were observed in five, five, one, and five children, respectively. The tumor weight ranged from 22 to 608 g. The 11 NSS children with ACT all had disease stage I and were alive. The median tumor weight, age of diagnosis, and interval between symptoms and diagnosis were 21 g, 1.9 years, and two weeks, respectively, for the NSS cohort and 210 g, 5.2 years, and 15 weeks, respectively, for the non-NSS cohort. The estimated surveillance/screening cost per year of life saved is US$623/patient. NSS is critical for improving the outcome of pediatric ACT in this region. Hence, we strongly advocate for the inclusion of R337H in the state-mandated universal screening and surveillance. [ABSTRACT FROM AUTHOR]

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Purpose: To analyze the stages of a hearing health program, from screening to referral for rehabilitation, based on the quality indicators for neonatal screening programs., Methods: This is a cohort, observational, retrospective study encompassing all newborns included in the Municipal Information System of Mogi Mirim, São Paulo, from 2010 to 2016. Besides the data present in the Information System on Live Newborns, the newborn's age at the first test, test and diagnosis results, and referrals for rehabilitation were analyzed, based on the quality indicator criteria recommended by the Neonatal Hearing Screening Care Guidelines, with a statistical program., Results: A total of 7,800 newborns participated. The following results were obtained in the analysis of the program quality indicators: 1) Neonatal hearing screening stage: 97% coverage in the first test; 91% of newborns by 30 days old; 2) Diagnosis stage: 0.24% referred after failing the second test; 94.73% adherence; 13.66% confirmed diagnosis by 3 months old; 3) Rehabilitation stage: 100% began speech-language-hearing therapy immediately after the diagnosis; 20% received the hearing aid within 1 month from diagnosis., Conclusion: The program, conducted in an outpatient setting, met the recommendations of the guidelines presented by the Ministry of Health concerning the coverage and age at first examination, age at screening up to 1 month old, referral for diagnosis, and beginning the intervention. These results were obtained thanks to institutional support from the municipality.

Purpose: This study aims to know the current scenario of speech audiology therapy activities at NHS in Brazil, identifying its obstacles and perspectives, as well as verifying the adequacy of national NHS Programs to the pre-established quality indicators., Methods: Analytical observational study, carried out with speech therapists in the exercise of NHS in Brazil, between August 2018 and August 2019, through a structured online questionnaire. Descriptive and correlational analyzes of the data were performed using the SPSS version 22.0 program., Results: The effective practice of NHS was not entirely consistent with official protocols. 48.5% of speech therapists stated that NHS interruption at some point in the workplace, especially due to the need to repair the equipment (64.7%). As for the flow records and care-related data, which include quality indicators there was greater control over the total number of neonates who underwent NHS (87.9%) and less control over false-positive results (21.2%). 81.8% of speech-language-hearing therapists said they were available to use a system for recording and controlling NHS data., Conclusion: Although professionals' practices are generally consistent with official protocols, the non-linearity of the process and the lack of data control are important obstacles to the quality of NHS services. Most of the national NHS programs presented do not meet the pre-established quality indicators. It is considered that the computerization of records can benefit professionals and enhance the implementation of NHS provided for in Brazilian laws and public policies.

To verify the characteristics of neonates with perinatal/congenital infections (PCI) receiving care at a Universal Newborn Hearing Screening (UNHS) program of a university hospital. A retrospective cross-sectional study was conducted with secondary data, obtained from records of neonates with diagnosis of and/or suspicion for PCI who received care between 2017 and 2019. The information analyzed referred to 164 neonates who attended the service and were submitted to Newborn Hearing Screening (NHS). The most prevalent infection was syphilis (67.7%), followed by HIV (20.1%). An expressive number of neonates failed NHS (11.5%). An association was verified between the cases of syphilis and HIV and older mothers (p < 0.035). An increase in the prevalence of PCI was observed, proving it to be an important indicator, whereas these infections can be prevented. In all the years analyzed, syphilis was the most recurrent RIHL. NHS is a means of early diagnosis and intervention that must necessarily be performed in the first months of the child's life. [ABSTRACT FROM AUTHOR]

Objectives: To characterize the outcomes of a universal neonatal hearing screening program in Brazil., Methods: Retrospective documentary analysis of the hearing screening of the neonates born in the hospital from August 2019 to July 2020. The universal neonatal hearing screening program performed the examination of TEOAE in newborn without risk factors for hearing loss and TEOAE and aABR in neonates with risk factors for hearing loss., Results: 9941 neonatal records were studied, 9088 newborns (91,42%) with no risk factors for hearing loss and 849 newborns (8.54%) with risk factors for hearing loss. 4 newborns (0.04%) had hearing loss in the group without risk factors and 16 newborns (1.88%) in the group with risk factors. In retesting those newborns who failed the UNHS test stage, we had 4 newborns (0.04%) without risk factors and 2 newborns (0,24%) with risk factors who evaded and did not return to service., Conclusion: It was possible to survey the outcomes of one year of the UNHS service and observe that the coverage rate of the service was 99.96%. The use of the combined methodology guaranteed a number of forwardings for less returns. Through this study, it was possible to observe that this service complies with the quality indicators recommended by the guidelines., (Copyright © 2021 Elsevier B.V. All rights reserved.)

Purpose: To determine the coverage of newborn hearing screening (NHS) and its association with the availability of speech therapists in the National Health System (SUS) and equipment in the states of Brazil in 2012 and 2018., Methods: This is a descriptive ecological time series study with the Brazilian states and live births as units of analysis. An exploratory analysis of newborn hearing screening coverage and descriptive data analysis were performed. Spearman's correlation coefficient was used to measure the strength and direction of the association between two ranked variables., Results: Coverage in Brazil increased from 24.1% to 67.6%. Better coverage was observed in the South and Southeast regions in 2012, and in the former and Mato Grosso state (MS) in 2018. The average number of speech therapists was 4.79 and 8.9 / 100,000 inhabitants in 2012 and 2018, respectively. The index of "transient evoked otoacoustic emission" equipment was below 1 / 100,000 inhabitants in the two years in all the states of the country., Conclusion: Screening coverage increased in Brazil, albeit below the recommended level, and is related to rising number of speech therapists in the SUS. Spatial distribution is heterogeneous throughout the country.

Introduction: Studies have demonstrated the ototoxic effects of antimalarial drugs in individuals who receive these drugs, but little is known regarding the toxicity of these drugs in the newborn auditory system when administered to the mother receive the drug during pregnancy., Objective: To verify the incidence of hearing loss in neonates who have no other associated risk indicators, born to mothers treated for malaria during pregnancy., Methods: A retrospective, quantitative cohort study was developed at Hospital de Base Dr. Ary Pinheiro and Clínica Limiar, both located in the municipality of Porto Velho (Rondônia). The sample consisted of 527 newborns divided into two groups: exposed to antimalarials drugs during pregnancy group (n = 32) and non-exposed group (n = 495). Data collection took place from September 2014 to December 2015, through an interview with the mothers and/or guardians of the newborn, through the newborns' and the mothers' records, and the neonatal hearing screening database of the above-mentioned institutions., Results: All the neonates in the exposed group, assessed through the recording of transient otoacoustic emissions associated with the automated brainstem auditory evoked potential test, underwent neonatal hearing screening in the first examination. Among the newborns in the non-exposed group, 30 showed failure and were retested. Of these, one continued to fail and was referred for diagnosis, in whom the results showed to be within the normal range. Among the neonates of the exposed group, infection with Plasmodium vivax was the most frequent, and was similarly distributed among the gestational trimesters, and chloroquine was the most commonly used antimalarial drug treatment more often given during the third trimester; these findings did not show any influence on the audiological findings of the studied neonates., Conclusion: The present study did not identify any cases of hearing loss in neonates born to mothers who used antimalarial drugs during gestation., (Copyright © 2019 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.)

Objectives Adequate treatment of congenital hypothyroidism (CH) is required for normal growth and sexual development. To evaluate pubertal development in patients with permanent CH detected by a statewide Neonatal Screening Program of Paraná and, secondly, to evaluate adult height (AH) in a subgroup of patients. Methods Clinical, laboratory, and auxological data obtained from medical records of 174 patients (123 girls). Results Median chronological age (CA) at treatment initiation was 24 days, and mean initial levothyroxine dose was 11.7 ± 1.9 μg/kg/day; mean CA at puberty onset was 11.5 ± 1.3 years (boys) and 9.7 ± 1.2 years (girls); mean CA in girls who underwent menarche (n=81) was 12.1 ± 1.1 years. Thyroid-stimulating hormone (TSH) values above the normal range were observed in 36.4% of the boys and 32.7% of the girls on puberty onset, and in 44.6% around menarche. Among 15 boys and 66 girls who had reached the AH, the median height z-score value was significantly greater than the target height (TH) z-score value in boys (p=0.01) and in girls (p<0.001). Boys with normal TSH values at puberty onset had greater mean AH z-score compared with boys with TSH values above the normal range (p=0.04). Conclusions In this group, pubertal development in girls with CH was not different from that reported in healthy girls in the general Brazilian population. Boys with higher TSH at puberty onset may have an increased risk of not reaching their potential height compared with those with normal TSH during this period. In a subgroup who attained AH, the median AH z-score was greater than the median TH z-score.

The Hospital of the Ribeirão Preto Medical School, University of São Paulo is one of the three screening centers in São Paulo State, Brazil, and has included a test for cystic fibrosis (CF) since February 6, 2010, by a court order. We evaluated the first five years of this CF-newborn screening program. The original immunoreactive trypsinogen (IRT)/IRT screening protocol was adopted in Brazil. A total of 173,571 newborns were screened, 1,922 (1.1%) of whom showed IRT1 ≥ 70ng/mL. Of these, 1,795 (93.4%) collected IRT2, with elevated results (IRT2 ≥ 70ng/mL) in 102 of them (5.2%). We identified a total of 26 CF cases during this period, including three CF cases that were not detected by the CF-newborn screening. The incidence of the disease among the screened babies was 1:6,675 newborns screened. Median age at the initial evaluation was 42 days, comparable to that of neonates screened with the IRT/DNA protocol. Almost all infants with CF already exhibited some manifestations of the disease during the neonatal period. The mutation most frequently detected in the CF cases was F508del. These findings suggest the early age at the beginning of treatment at our center was due to the effort of the persons involved in the program regarding an effective active search. Considering the false negative results of CF-newborn screening and the early onset of clinical manifestations of the disease in this study, pediatricians should be aware of the diagnosis of CF even in children with negative test.

Objective: The prevalence of biotinidase deficiency and the frequency of biotinidase gene variants in Brazil are not documented. We aimed to determine the incidence of partial and profound biotinidase deficiency in the state of Minas Gerais, Brazil, and to calculate the frequency of biotinidase gene variants in the newborn screening program of Minas Gerais., Methods: Neonates (1,168,385) were screened from May 2013 to June 2018. Those detected with abnormal biotinidase activity based on semi-quantitative assays underwent confirmatory serum tests. The biotinidase gene was sequenced in all confirmed cases., Results: The combined incidence of partial and profound biotinidase deficiency was estimated at 1:13,909 live births (95% confidence limit 1:11,235-1:17,217), much higher than the incidence rates reported in other populations worldwide. The most frequent biotinidase gene variants were p.D444H (allele frequency, 0.016), haplotype c.1330G>C;c.511G>A (p.D444H;A171T), p.D543E, c.310-15delT (intronic), p.V199M, and p.H485Q. Together these accounted for 74.6% of the alleles analysed., Conclusion: Newborn screening for biotinidase deficiency, which revealed a higher incidence in Minas Gerais, is feasible and plays a critical role in the early identification of affected neonates and prevention of symptoms and irreversible sequelae. Biotinidase gene sequencing is a useful tool to confirm the diagnosis, and also provides valuable information about genetic variability among different populations.

Objective: To identify the prevalence and associated factors with the performance of the Guthrie test, hearing, and red reflex screening tests in Brazil., Methods: This was a population-based, cross-sectional study that analyzed data on 5,231 children under 2 years of age participating in the National Health Survey of 2013. The study described the prevalence and Confidence Intervals (95% CI) of the three neonatal screening tests performed, in any period, and their association with the country's regions, skin color/ethnicity, private health insurance, and per capita household income. Logistic regression models were used, and odds ratios were calculated by incorporating sample weights., Results: The prevalence of Guthrie test screening in Brazil at any time of life was 96.5%, that of the newborn hearing screening was 65.8% and that of the red reflex screening test was 60.4%. The performance of the three screening tests was significantly higher among children whose mothers/guardians reported higher per capita household income, who lived in the South and Southeast regions, and who had private health insurance (p<0.001). There was no statistically significant difference regarding the performance of the tests according to skin color/ethnicity (p>0.05). The same inequalities were verified when the tests were performed during the recommended periods, with a strong socioeconomic gradient., Conclusions: There are inequalities in the performance of neonatal screening tests in the country, and also in the performance of these tests during the periods established in the governmental guidelines. The guarantee of the performance of these tests in a universal and public health system, as in Brazil, should promote equity and access to the entire population., (Copyright © 2019 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.)

Background: There is increasing interest in the development of newborn screening tests to identify children at risk of fetal alcohol spectrum disorder (FASD) in order to provide these children with early intervention. Phosphatidylethanol (PEth) has emerged as a potential universal newborn screening candidate., Methods: The aim of this report was to present the results of a study designed to compare PEth levels in 1,140 postpartum women and their newborn infants in Montevideo, Uruguay, and Sao Paulo, Brazil. Self-report alcohol use during pregnancy data was collected, along with both maternal and newborn dried blood spot samples for PEth analysis., Results: The average age and parity of the women in the sample were 26 years of age and 2.3 pregnancies. For the Uruguay sample (n = 611), 45.8% of postpartum women had PEth levels ≥ 8 ng/ml with a mean positive PEth of 43.6 ng/ml. In contrast, 86.8% of the newborns had PEth levels ≥ 8 ng/ml, with a mean positive PEth of 77.4 ng/ml. For the Brazil sample (n = 529), 33.2% of women had PEth levels ≥ 8 ng/ml with a mean positive PEth of 31 ng/ml. In contrast, 76.9% of the Brazil newborns had PEth levels ≥ 8 ng/ml and 43.9% with a mean positive PEth of 61.1 ng/ml. PEth levels were significantly higher in newborns compared with their postpartum mothers in both the Uruguay and Brazil samples. Self-reported third-trimester alcohol was 6% in the Uruguay sample and 9.1% in the Brazil sample compared with positive maternal PEth levels in 45.8% and 33.2%, respectively., Conclusions: Clinicians may want to consider newborn PEth screening in high-risk populations where prenatal alcohol use is common. The mechanism underlying significantly higher PEth levels in newborns compared with their mothers is not known., (© 2020 by the Research Society on Alcoholism.)