Prevalência e fatores associados à realização dos exames de triagem neonatal no Brasil: comparação da PNS 2013 e 2019 / Prevalence of neonatal screening and associated factors in Brazil: a comparison of the 2013 and 2019 National Health Surveys

Resumo Analisou-se a prevalência e fatores associados à realização da Triagem Neonatal Completa (TNC) entre crianças (<2 anos de idade) no Brasil incluídas na Pesquisa Nacional Saúde 2013 (n=4.442) e 2019 (n=5.643). Estudo transversal comparou as estimativas de prevalência e intervalos de confiança de 95% (IC95%) da TNC (testes do olhinho, orelhinha e pezinho). Diferenças foram consideradas estatisticamente significante ao nível de 5%. Regressões de Poisson bruta e ajustada foram realizadas para estimar Razões de Prevalência (RP) e IC95% para a associação das variáveis socioeconômicas, demográficas e de saúde com a TNC. Verificou-se aumento estatisticamente significante da TNC: 67,4% (IC95%: 65,5-69,3) em 2019, ante 49,2% (IC95%: 47,1-51,3) em 2013. Porém, ainda existem desigualdades e defasagens entre os estados da federação e variáveis sociodemográficas. Entre os anos, a TNC foi menor nas crianças de cor/raça parda e preta, dos três piores quintis de renda, sem plano de saúde, cadastradas na Estratégia de Saúde da Família, da região norte, de cidades do interior e da zona rural do Brasil. Apesar de o aumento da prevalência de TNC, desigualdades e defasagens individuais e contextuais permaneceram, indicando os desafios das políticas de saúde.

Abstract 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.

Tamizaje al nacimiento del grupo sanguíneo ABO/RhD y la prueba directa de la antiglobulina de Coombs. Experiencia de una sola institución / Neonatal screening of ABO/RhD blood group and direct antiglobulin Coombs test. Experience of a single institution

Resumen Introducción: La determinación del grupo sanguíneo ABO/RhD y la prueba directa de Coombs (PDC) al nacimiento son una práctica recomendada, pero existe variabilidad en su implementación universal. Se presentan los resultados de la determinación al nacimiento del grupo ABO/RhD y la PDC en una cohorte institucional. Métodos: Se incluyeron los recién nacidos entre 2017 y 2020 en un hospital de atención a embarazos de alto riesgo. Se determinó el grupo ABO/RhD y se realizó la PDC en muestras de cordón umbilical o en las primeras 24 horas de vida. Se registraron las variables demográficas, maternas y neonatales. Se estimó la asociación entre las variables mediante la razón de probabilidad (OR). Resultados: Se incluyeron 8721 binomios. La PDC fue positiva en 239 recién nacidos (2.7%), siendo las variables asociadas a la PDC positiva la edad materna > 40 años (OR: 1.5;IC95%: 1.0-2.3), el nacimiento por vía cesárea (1.4; 1.1-2.0), la madre del grupo O (6.4; 3.8-11.8), la prematuridad (3.6; 2.6-5.0); el peso al nacer < 2500 g (2.1; 1.6-2.8); el neonato del grupo A (15.7; 10.7-23.1) o del grupo B (17.6; 11.4-27.2), la hemoglobina al nacer < 13.5 g/dl (4.5; 2.8-7.1) y la reticulocitosis > 9% (1.9; 1.2 a 3.1). Discusión: La frecuencia de PDC positiva neonatal es del 2.7%, con asociación significativa la incompatibilidad materna/neonatal al grupo ABO y RhD, con impacto significativo en diversas variables neonatales. Estos resultados apoyan la política de implementación universal al nacimiento de la determinación de ABO/RhD y PDC.

Abstract Background: Evaluating the ABO/RhD blood group and the direct antiglobulin Coombs test (DAT) at birth is recommended good practice, but there is variability in its universal implementation. This study aims to show the comparative results in various variables of clinical impact during the hospital stay of neonates with positive DAT compared with those with negative DAT, based on the systematic detection of the ABO/RhD group and DAT at birth. Methods: Newborns between 2017 and 2020 in a high-risk pregnancy care hospital were included. The ABO/RhD and DAT group was determined in umbilical cord samples or the first 24 hours of life. Demographic, maternal, and neonatal variables were recorded. The association between the variables was estimated using the odds ratio (OR). Results: 8721 pairs were included. The DAT was positive in 239 newborns (2.7%), with the variables associated with positive PDC being maternal age > 40 years (OR: 1.5; 95% CI: 1.0 to 2.3), birth by cesarean section (1.4; 1.1-2.0), mother group O (6.4; 3.8-11.8), prematurity (3.6; 2.6-5.0), birth weight < 2500 g (2.1; 1.6-2.8), newborn group A (15.7; 10.7-23.1) and group B (17.6; 11.4-27.2), hemoglobin at birth < 13.5 g/dl (4.5; 2.8-7.1) and reticulocytosis > 9% (1.9; 1.2 to 3.1). Discussion: The frequency of neonatal positive PDC was 2.7%, with a significant association with maternal/neonatal incompatibility to the ABO and RhD group, with a substantial impact on various neonatal variables. These results support the policy of universal implementation at the birth of the ABO/RhD and DAT determination.

Infección congénita por citomegalovirus, hipoacusia y tamizaje neonatal. Una actualización / Congenital cytomegalovirus infection, hearing loss and newborn screening. An update

El citomegalovirus congénito (CMVc) es la infección congénita más común y la principal causa no genética de hipoacusia congénita. Gran parte de los recién nacidos (RN) con CMVc sintomático desarrolla secuelas graves permanentes, donde la hipoacusia es la más frecuente. Sin embargo, el 90% de los casos se presenta en forma asintomática, pudiendo desarrollar secuelas auditivas tardías. El diagnóstico precoz de CMVc requiere un alto índice de sospecha. Actualmente, técnicas eficientes para su detección están disponibles, lo que facilita el diagnóstico en las primeras 3 semanas de vida. La terapia antiviral es la primera línea de tratamiento para el CMVc sintomático, logrando buenos resultados auditivos. A pesar de los avances en los métodos de detección y beneficios del tratamiento, los RN no son tamizados para CMVc. El tamizaje selectivo de CMVc en pacientes que no pasan el screening auditivo facilita la intervención precoz en los casos identificados, pero no permite detectar el número significativo de niños que presenta hipoacusia de aparición tardía. El tamizaje universal permite hacer seguimiento auditivo a los pacientes en riesgo de desarrollar hipoacusia sensorioneural (HSN) por CMVc, identificando así los casos de hipoacusia de aparición tardía, pero la costo-efectividad es aún controversial. Es necesario avanzar en una estrategia local para el tamizaje de CMVc, buscando reducir su impacto a nivel nacional.

Congenital cytomegalovirus (cCMV) is the most common congenital infection and the main non-genetic cause of congenital hearing loss. A significant number of newborns (NB) with symptomatic cCMV will develop permanent serious sequelae, being hearing loss the most frequent. However, 90% of the cases are asymptomatic and may develop late auditory sequelae. Early diagnosis of cCMV requires a high index of suspicion. Currently, efficient detection techniques for its detection are available, which facilitates diagnosis within the first 3 weeks of life. Antiviral therapy is the first line of treatment for symptomatic cCMV, achieving good hearing results. Despite advances in detection methods and the benefits of antiviral therapy, NB are not routinely screened for cCMV. Selective screening for cCMV in patients who fail newborn hearing screening facilitates early intervention in identified cases but fails to detect a significant number of children with late onset hearing loss. Universal screening allows hearing follow up in patients at risk of developing sensorineural hearing loss (SNHL) due to cCMV, thus identifying late-onset hearing loss cases, but cost-effectiveness is still controversial. It is necessary to advance in a local strategy for cCMV screening, aiming to reduce its national impact.

Advances in application of 21-deoxycortisol in the diagnosis and monitoring of 21-hydroxylase deficiency / 国际儿科学杂志

With the whole life involvement，21-hydroxylase deficiency（21-OHD）affects the quality of life，and the death rate of salt wasting form is high，thus the timely diagnosis and standardized treatment are needed. Traditionally，17-hydroxyprogesterone（17-OHP）is an indicator for screening，diagnosis and monitoring of 21-OHD. However，17-OHP has some limitations，such as high false-positive rate in neonatal screening，high fluctuation，and interference of puberty and menstrual cycle，etc. Therefore，attempts have been made to find better indicators to help guide clinical practice. Recently，several studies have suggested that 21-deoxycortisol（21-DF）may be a more specific marker for 21-OHD，which has the following advantages：no elevation is observed in premature infants or patients with other forms of congenital adrenal hyperplasia，and the blood sample timing doesn't affect the detection of 21-DF；21-DF is a reliable diagnostic marker of non-classical 21-OHD；adrenal gland is the only source of 21-DF. Therefore，this article reviews the limitations of 17-OHP and the relative advantages of 21-DF.

Screening threshold for congenital adrenal hyperplasia in preterm and full-term infants by an indirect method / 中华实用儿科临床杂志

Objective:To analyze the difference and reliability of blood 17-hydroxyprogesterone (17-OHP), an indirect screening index for congenital adrenal hyperplasia (CAH), between preterm and full-term infants.Methods:In this retrospective cross-sectional study, a total of 210 285 newborns who underwent CAH screening at the Neonatal Screening Center of Shanghai Children′s Hospital from January 2019 to December 2022 were collected, including 14 312 premature infants and 195 973 full-term infants.The concentration of 17-OHP in dried blood spots on filter paper was determined by an automatic fluorescence analyzer.The distribution of 17-OHP levels in preterm and full-term infants and its statistical index were analyzed.The Kolmogorov-Smirnov test was used for normal distribution.The skewed distribution data was converted into approximately normal distribution using Box-Cox.Outliers were eliminated by the interquartile range method.The cumulative frequency distribution map was drawn by R language programming.The 99.5 th percentile value was used as the screening threshold and compared with the reference value given by the manufacturer or laboratory and with the reference change value (RCV). Results:According to the threshold provided by the laboratory, 26.76‰ of premature infants were tested positive in preliminary screening, and 4 were confirmed with an incidence of 1∶3 578, while 0.79‰ of full-term infants were tested positive in preliminary screening, and 11 were confirmed with an incidence of 1∶17 816.The thresholds for CAH screening established indirectly were 20.35 nmol/L in preterm infants and 10.78 nmol/L in full-term infants.The relative deviations between the indirect CAH screening thresholds and the manufacturer′s or laboratory′s CAH screening thresholds were higher than the RCV, respectively.According to the indirect CAH screening thresholds, the negative and positive coincidence rates of 65 samples in 13 batches from the Centers for Disease Control and Prevention interlaboratory quality assessment program in the United States reached 100%.A retrospective analysis of 210 285 neonates showed that 17-OHP concentration was higher than the screening threshold in all CAH-positive neonates.The application of this screening threshold reduced the false positive rate of preterm infants by 59.79%.Conclusions:It is feasible to establish the CAH screening thresholds for premature and full-term infants by an indirect method, which can improve the efficiency of screening and provide better diagnostic basis for clinical practice.

Findings of ocular examinations in healthy full-term newborns / Achados de exame ocular realizado em recém-nascidos a termo saudáveis

ABSTRACT Purpose: To assess the anterior and posterior segments of full-term neonates over a 1.5-year period. Methods: The findings of full-term neonates who underwent ophthalmological examinations between June 2019 and December 2020 were analyzed, and the results were retrospectively recorded. Results: The study comprised 2972 neonates with a mean birth week of 38.7 ± 1.2 weeks and a mean birth weight of 3235 ± 464 g. The neonates were examined on an average of 49.3 ± 18.9 postnatal days. Of the examined neonates, 185 (6.2%) showed abnormal ophthalmological findings, the most prevalent of which were retinal hemorrhage in 2.3% (n=68) and white changes in the peripheral retina in 1.9% (n=55) of the neonates. Cases of optic disc pathologies (n=20), choroidal nevus (n=10), iris-choroidal coloboma (n=5), subconjunctival hemorrhage (n=6), non-specific retinal pigmentary change (n=4), congenital cataract (n=3), posterior synechia (n=3), iris nevus (n=3), corneal opacity (n=1), choroidal coloboma (n=1), iris coloboma (n=1), buphthalmos (n=1), anophthalmos (n=1), microphthalmia (n=1), lid hemangioma (n=1), and vitreous hemorrhage (n=1) collectively accounted for approximately 2% of all neonates. Pathologies that could potentially impair vision, which were detected by ophthalmological examination, accounted for 1.2% of all neonates (n=37). Conclusion: The most prevalent finding of the ophthalmological examinations of neonates in the present study was retinal hemorrhage. Ophthalmological examinations of neonates can help in identifying diseases that may affect their vision and are curable or may lead to amblyopia in the long term.

RESUMO Objetivo: Avaliar os segmentos anterior e posterior em recém-nascidos a termo durante um período de 1,5 anos. Métodos: Foram analisados recém-nascidos a termo que tiveram os olhos examinados entre junho de 2019 e dezembro de 2020, e os resultados foram registrados retrospectivamente. Resultados: O estudo foi composto por 2.972 recém-nascidos com média de uma semana de nascimento de 38,7 ± 1,2 semanas e um peso médio ao nascer de 3235 ± 464 g. Os recém-nascidos foram examinados em média pós-natal de 49,3 ± 18,9 dias. Dos recém-nascidos, 185 (6,2%) apresentaram resultados oculares anormais. Os achados oculares anormais mais prevalentes foram hemorragia da retina em 2,3% (n=68) e alterações brancas na retina periférica em 1,9% (n=55) dos recém-nascidos. Casos de patologias de disco óptico (n=20), nevo de coroide (n=10), coloboma iris-coroide (n=5), hemorragia subconjuntival (n=6), alteração pigmentar da retina não específica (n=4), catarata congênita (n=3), Sinequia posterior (n=3), nevo da íris (n=3), opacidade da córnea (n=1), coloboma de coroide (n=1), coloboma de íris (n=1), buftalmos (n=1), anoftalmia (n=1), microftalmia (n=1), hemangioma de pálpebra (n=1) e hemorragia vítrea (n=1) contabilizaram coletivamente cerca de 2% dos recém-nascidos. As patologias que potencialmente prejudicam a visão, detectadas por exame ocular, representaram 1,2% dos recém-nascidos (n=37). Conclusão: O achado mais prevalente de exames oculares de recém-nascidos neste estudo foi hemorragia da retina. Exames oftalmológicos em recém-nascidos podem ser úteis na identificação de doenças que podem impactar a visão deles, podendo ser curáveis ou levar à ambliopia no longo prazo.

Panorama da Saúde Auditiva infantil no Sistema Único de Saúde no estado de Sergipe / Children's Hearing Health Panorama in the Unified Health System in the state of Sergipe

RESUMO Objetivo Descrever o panorama da saúde auditiva infantil no Sistema Único de Saúde do estado de Sergipe. Método Estudo quantitativo e retrospectivo, composto por quatro etapas: 1) Busca no Cadastro Nacional de Estabelecimento de Saúde das instituições conveniadas ao Sistema Único de Saúde no estado de Sergipe que realizam serviços obstétricos e dos serviços que atuam na saúde auditiva; 2) Obtenção de dados de cobertura da Triagem Auditiva Neonatal (TAN), por meio do DATASUS (de 2012 a 2020); 3) Coleta de dados em prontuários das instituições com obstetrícia e/ou que realizam a TAN; e 4) Entrevista aos responsáveis das crianças em reabilitação auditiva. Os resultados foram sumarizados por meio de estatística descritiva (frequência absoluta e relativa, medidas de tendência central e de dispersão). Resultados Dos 29 estabelecimentos com obstetrícia, um realiza a TAN. Há dois Centros de Referência em Saúde Auditiva (CRSA) com habilitação para implante coclear e dois Centros Especializados em Reabilitação. De 2012 a 2020 a cobertura da TAN no estado foi inferior a 40% e quando realizada na maternidade, houve ausência de encaminhamentos para a realização do Potencial Evocado Auditivo de Tronco Encefálico (PEATE) e do diagnóstico audiológico. Observou-se cobertura considerável no CRSA com menor taxa de evasão para realizar PEATE e com taxa de diagnóstico de 4,8%. O tempo médio da TAN universal à reabilitação foi superior ao recomendado. Conclusão Existe necessidade de aumentar a cobertura da TAN, ajustar a rede de saúde auditiva para a articulação nos diferentes níveis de atenção e diminuir o tempo para identificação, diagnóstico e início da reabilitação.

ABSTRACT Purpose To describe the panorama of children's hearing health in the Unified Health System of the state of Sergipe. Methods A quantitative and retrospective study consisting of four steps: 1) Search the National Registry of Health Establishments of institutions affiliated to the Health Unic System in the state of Sergipe that perform obstetric services and hearing health services; 2) Collecting Neonatal Hearing Screening (NHS) coverage data through DATASUS (from 2012 to 2020); 3) Data collection from medical records of institutions with obstetrics and that perform NHS; and 4) Interview with the guardians of children undergoing auditory rehabilitation. The results were summarized using descriptive statistics (absolute and relative frequency, measures of central tendency, and dispersion). Results Only one out of the 29 establishments with obstetrics performs NHS. Two of the Hearing Health Reference Centers (HHRC) are qualified for cochlear implants and two Specialized Centers are qualified for Rehabilitation. From 2012 to 2020, NHS coverage in the state was less than 40%, and when performed in the maternity ward, there were no referrals for Brainstem Auditory Evoked Response (BERA) and audiological diagnosis. The HHRC showed considerable coverage and a lower evasion rate to perform BERA, with a diagnosis rate of 4.8%. The mean time from the NHS to rehabilitation was longer than recommended. Conclusion NHS coverage must be increased, adjusting the hearing health network to articulate the different levels of care, and reducing the time for identification, diagnosis, and start of rehabilitation.

Infección congénita por citomegalovirus: evaluación de diagnóstico y desafíos en la detección temprana / Congenital cytomegalovirus infection: diagnosis assessment and challenges in early detection / Infecção congênita por citomegalovírus: avaliação do diagnóstico e desafios na detecção precoce

Resumen La detección temprana de la infección congénita por citomegalovirus (cCMV) en pacientes pediátricos permite la implementación de un tratamiento apropiado con el fin de reducir la gravedad de las secuelas asociadas a esta infección, lo cual impacta directamente en la calidad de vida del paciente. El objetivo de este estudio fue determinar la tasa de positividad de infección por CMV en niños con sospecha clínica de infección congénita y analizar las estrategias utilizadas en la confirmación diagnóstica de laboratorio. Para ello se realizó un análisis retrospectivo de muestras de niños con sospecha clínica de cCMV, las cuales fueron evaluadas en el laboratorio de Virología de la institución mediante una reacción en cadena de la polimerasa en tiempo real (qPCR) específica para citomegalovirus (CMV). Fue incluido un total de 698 pacientes y se analizaron 125 muestras de sangre de tarjetas de screening neonatal (TSN) y 659 muestras de orina en el período comprendido entre el 1 de enero de 2016 y el 31 de diciembre de 2022. El diagnóstico de cCMV fue confirmado en 24 pacientes mediante la presencia del virus en muestras de orina o TSN según la edad del paciente, lo que correspondió al 3,4% (24/698) del total de los pacientes estudiados.

Abstract Early detection of congenital cytomegalovirus (cCMV) infection in pediatric patients enables the implementation of appropriate treatment to reduce the severity of associated sequelae, directly impacting the child's quality of life. The aim of this study was to determine the CMV positivity rate in children clinical suspected of congenital infection and to analyse the strategies used in laboratory diagnostic confirmation. A retrospective analysis of samples from children with clinical suspected cCMV was evaluated by the Virology Laboratory of this institution using real-time polymerase chain reaction (qPCR) specific for cytomegalovirus (CMV). A total of 698 patients were included, analysing 125 samples from neonatal screening cards (NSC) and 659 urine samples in the period between January 1, 2016 and December 31, 2022. The diagnosis of congenital CMV (cCMV) was confirmed in 24 patients through the presence of the virus in urine or NSC samples, corresponding to 3.4% (24/698) of the total patients studied.

Resumo A detecção precoce da infecção congênita pelo citomegalovírus (cCMV) em pacientes pediátricos permite a implementação de um tratamento adequado com o objetivo de reduzir a gravidade das sequelas associadas a esta infecção, o que impacta diretamente na qualidade de vida da criança. O objetivo deste estudo foi determinar a taxa de positividade de infecção por CMV em crianças com suspeita de infecção congênita e analisar as estratégias utilizadas na confirmação diagnóstica laboratorial. Para isso, foi realizado uma análise retrospectiva de amostras de crianças com suspeita de cCMV, as quais foram estudiadas pelo laboratório de Virologia da instituição por meio de reação em cadeia da polimerase em tempo real (qPCR) específica para citomegalovírus (CMV). Um total de 698 pacientes foram incluídos, sendo analisadas 125 amostras de sangue de cartões de triagem neonatal (TSN) e 659 amostras de urina no período entre 1º de janeiro de 2016 e 31 de dezembro de 2022. O diagnóstico de cCMV foi confirmado em 24 pacientes pela presença do vírus em amostras de urina ou TSN, de acordo com a idade do paciente, correspondendo a 3,4% (24/698) do total de pacientes estudados.

IRT/IRT as a newborn cystic fibrosis screening method: optimal cutoff points for a mixed population / Protocolo TIR/TIR como método de triagem neonatal para fibrose cística: pontos de corte ideais para populações com baixa incidência da doença e poucos recursos / Protocolo TIR/TIR como método de tamizaje neonatal de fibrosis quística: puntos de corte ideales para poblaciones con baja incidencia de la enfermedad y pocos recursos

Abstract: The Brazilian Unified National Health System (SUS) has incorporated newborn screening for cystic fibrosis since 2001. The protocol involves two samples of immunoreactive trypsinogen (IRT1/IRT2). This study aims to analyze fixed and floating values at the first and second IRT (IRT1/IRT2) cutoff points and assess the accuracy of the IRT/IRT methodology in a population from Northeastern Brazil. Descriptive, individual-level data from the newborn screening reference service data system (2013-2017) were used in this observational population study. The sensitivity, specificity, and positive predictive values (PPV) for the protocol were calculated. The best cutoff point was determined using the Youden's index. The previous year's cut-off values for the IRT1 and IRT2 99.4-, 99.5-, 99.6-, and 99.7-percentiles were utilized for the floating cutoff. During the studied period, 840,832 newborns underwent screening for cystic fibrosis, obtaining 49 cystic fibrosis diagnoses: 39 by newborn screening (79.6%) and 10 (20.4%) by clinical suspicion (false negative). The sensitivity, specificity, and PPV of the protocol totaled 79.6%, 99.9%, and 6.1%, respectively. No proposed cutoff for IRT1 performed better than the current one. IRT2 performed similarly to the current protocol at a cutoff point of 90ng/mL, showing the appropriate sensitivity and specificity while reducing the frequency of false positives. The protocol to screen newborns for cystic fibrosis had low sensitivity, a predictive positive value, and a high number of false positives and negatives. A floating cut point for IRT1 or IRT2 seems to constitute no viable option. However, changing the IRT2 cut point from 70ng/mL to 90ng/mL seems to have advantages and should undergo consideration.

Resumo: A triagem neonatal para fibrose cística oi incorporada ao Sistema Único de Saúde (SUS) em 2001. O protocolo envolve duas amostras de tripsinogênio imunorreativo (TIR/TIR). O objetivo foi analisar os valores fixos e flutuantes no primeiro e segundo pontos de corte da TIR (TIR1/TIR2) e avaliar a acurácia da metodologia TIR/TIR em uma população do nordeste brasileiro. Trata-se de um estudo observacional de base populacional que inclui dados descritivos em nível individual obtidos retrospectivamente do Serviço de Referência em Triagem Neonatal (2013-2017). Foram calculados a sensibilidade, a especificidade e o valor preditivo positivo (VPP) do protocolo. O melhor ponto de corte foi determinado pelo índice de Youden. Os pontos de corte do ano anterior para os percentis TIR1 e TIR2 de 99,4, 99,5, 99,6 e 99,7 foram utilizados para o ponto de corte flutuante. No período do estudo, 840.832 recém-nascidos foram submetidos à triagem neonatal para fibrose cística, com 49 diagnósticos de fibrose cística, sendo 39 pela triagem neonatal (79,6%) e 10 (20,4%) por suspeita clínica (falso-negativos). A sensibilidade, a especificidade e o VPP do protocolo de triagem neonatal para fibrose cística foram de 79,6%, 99,9% e 6,1%, respectivamente. Nenhum dos pontos de corte propostos para a TIR1 mostrou-se melhor do que o atual. A TIR2 teve desempenho semelhante ao atual no ponto de corte de 90ng/mL, demonstrando sensibilidade e especificidade adequadas, ao mesmo tempo que reduziu a frequência de falsos positivos. A triagem neonatal para fibrose cística apresentou valores baixos de sensibilidade e VPP, e número elevado de falso-positivos e negativos. Um ponto de corte flutuante para TIR1 ou TIR2 não parece ser uma opção viável. No entanto, a mudança do ponto de corte da TIR2 de 70ng/mL para 90ng/mL parece ter vantagens e deve ser considerada.

Resumen: El tamizaje neonatal de fibrosis quística fue incorporado al Sistema Único de Salud (SUS) en el 2001. El protocolo implica dos muestras de tripsinógeno inmunorreactivo (TIR/TIR). El objetivo fue analizar los valores fijos y flotantes en el primer y segundo puntos de corte de la TIR (TIR1/TIR2) y evaluar la precisión de la metodología TIR/TIR en una población del Nordeste brasileño. Se trata de un estudio observacional de base poblacional que incluye datos descriptivos a nivel individual obtenidos retrospectivamente del Servicio de Referencia en Tamizaje Neonatal (2013-2017). Se calcularon la sensibilidad, la especificidad y el valor predictivo positivo (VPP) del protocolo. El mejor punto de corte lo determinó el índice de Youden. Para el punto de corte flotante, se utilizaron los puntos de corte del año anterior para los percentiles TIR1 y TIR2 de 99,4, 99,5, 99,6 y 99,7. Durante el período de estudio, 840.832 recién nacidos fueron sometidos a tamizaje neonatal para fibrosis quística, con 49 diagnósticos de fibrosis quística, 39 de los cuales por la tamizaje neonatal (79,6%) y 10 (20,4%) por sospecha clínica (falsos negativos). La sensibilidad, la especificidad y el VPP del protocolo tamizaje neonatal para fibrosis quística fueron del 79,6%, 99,9% y 6,1%, respectivamente. Ninguno de los puntos de corte propuestos para la TIR1 resultó ser mejor que el actual. La TIR2 tuvo un desempeño similar al actual en el punto de corte de 90ng/mL, lo que demuestra sensibilidad y especificidad adecuadas, a la vez que redujo la frecuencia de falsos positivos. El tamizaje neonatal para fibrosis quística presentó valores bajos de sensibilidad y VPP, y un elevado número de falsos positivos y negativos. Un punto de corte flotante para TIR1 o TIR2 no parece ser una opción viable. Sin embargo, cambiar el punto de corte de la TIR2 de 70ng/mL a 90ng/mL parece tener ventajas y debe tenerse en cuenta.

Biological screening for congenital toxoplasmosis in newborns from Jataí, Goiás, Brazil: a cross-sectional study / Cribado biológico de la toxoplasmosis congénita en recién nacidos de Jataí, Goiás, Brasil: un estudio transversal / Triagem biológica de toxoplasmose congênita em recém-nascidos de Jataí, Goiás: um estudo transversal

ABSTRACT Objective: To conduct a serological screening for toxoplasmosis in the heel prick test and to evaluate its epidemiological aspects in newborns and postpartum women in Jataí, Goiás. Method: Cross-sectional epidemiological study for the biological screening of newborns in Jataí, Goiás. Results: The study participants amounted to 228 newborns, whose samples were collected between the third and seventh day of life. IgG antibodies against Toxoplasma gondii were detected in 40.79% (93/228) of the samples; out of these, 23.6% (22/93) had high IgG antibody titers, leading to the collection of two other peripheral blood samples and the detection of a decrease in these titers. Conclusion: The findings show the importance of strengthening actions in primary health care to prevent infection and training health professionals in this area to equip them with information regarding cases of reinfection and reactivation of infection in pregnant women, minimizing risks for babies.

RESUMEN Objetivo: Realizar un cribado serológico de la toxoplasmosis en la prueba del talón y evaluar sus aspectos epidemiológicos en los recién nacidos y puérperas en Jataí, Goiás. Método: Estudio epidemiológico transversal para el cribado biológico de los recién nacidos en Jataí, Goiás. Resultados: Participaron en el estudio 228 recién nacidos, cuyas muestras fueron recolectadas entre el tercer y séptimo día de vida. Se detectaron anticuerpos IgG contra Toxoplasma gondii en el 40,79% (93/228) de las muestras; de ellos el 23,6% (22/93) presentaban títulos elevados de anticuerpos IgG y de ellos se recogieron otras dos muestras de sangre periférica; se detectó una disminución de estos títulos. Conclusión: Los hallazgos muestran la importancia de fortalecer las acciones en la atención primaria de salud para prevenir la infección y capacitar a los profesionales de la salud en esta área para dotarlos de información sobre los casos de reinfección y reactivación de la infección en mujeres embarazadas, minimizando los riesgos para los bebés.

RESUMO Objetivo: Realizar a triagem sorológica da toxoplasmose no teste do pezinho e avaliar os aspectos epidemiológicos em recém-nascidos e puérperas de Jataí, Goiás. Método: Estudo epidemiológico transversal para a triagem biológica de recém-nascidos em Jataí, Goiás. Resultados: Participaram desta pesquisa 228 recém-nascidos, sendo coletadas amostras entre o terceiro e o sétimo dia de vida. Foram detectados anticorpos IgG anti Toxoplasma gondii em 40,79% (93/228) das amostras; destes, 23,6% (22/93) apresentaram altos títulos de anticorpos IgG e tiveram outras duas amostras de sangue periférico coletadas, sendo verificada a diminuição desses títulos. Conclusão: Tais achados demonstraram a importância do fortalecimento de ações junto à atenção primária à saúde para a prevenção da infecção, assim como a capacitação de profissionais da saúde que atuam nesta área, para que sejam munidos de informações referentes a casos de reinfecção e reativação da infecção em gestantes, minimizando os riscos para os bebês.

Oximetria de pulso neonatal: capacitação de profissionais e estudantes da saúde no formato remoto e presencial / Neonatal pulse oximetry: training healthcare professionals and students in remote and on-site format / Pulsioximetría neonatal: formación de profesionales y estudiantes de la salud a distancia y presencial

Introdução:A oximetria de pulso neonatal compõe o Programa Nacional de Triagem Neonatal do Brasil desde 2014. Entretanto, existem poucos registros de sua efetiva implementação na rotina de cuidados materno-infantis no país.Objetivo:O objetivo deste trabalho foi relatar a experiência em ações de educação em saúde a profissionais e estudantes da área da saúde e à população em geral, em temas relacionados ao Teste do Coraçãozinho.Metodologia:Trata-se de um estudo descritivo, do tipo relato de experiência, executado entre julho de 2019 a julho de 2021, antes e durante a pandemia de Covid-19, por discentes vinculados ao projeto de extensão de serviço universitário de referência do Rio Grande do Norte. O público-alvo das capacitações foram estudantes e profissionais do curso de Medicina, Enfermagem e Técnico de Enfermagem dos municípios de Natal, Macaíba, Santa Cruz, Currais Novos, Mossoró e Caicó, do estado do Rio Grande do Norte. Foi realizada uma capacitação no formato presencial antes da pandemia causada pela COVID-19 ou no formato remoto como adaptação das atividades durante o período pandêmico. A metodologia dos treinamentos foi composta por um formulário de pré e pós teste visando avaliar a eficácia das capacitações, somado a fundamentação teórica, simulações teórico-práticas e discussão de casos clínicos. Além disso, foram promovidas ações educativas destinadas à população geral. Resultados:As capacitações ministradas a profissionais e estudantes da área da saúde totalizaram 1212 participantes. Os eventos direcionados ao meio externo, como transmissões ao vivo e conteúdos audiovisuais em redes sociais, atingiram 12.931 pessoas. O fomento à produção científica envolveu a elaboração de 95 trabalhos aprovados em congressos regionais, nacionais e internacionais, bem como a organização de um congresso internacional nas áreas de Pediatria e Cardiologia, contabilizando 29.007 inscritos.Conclusões:Evidenciou-se a importância de intervenções para melhoria da linha de cuidado à criança cardiopata (AU).

Introduction:Neonatal pulse oximetry has been part of the National Newborn Screening Program in Brazil since 2014. However, there are few reports of its effective implementation in routine maternal and child care in the country. Objective: This study reports on the experience of providing health education to health professionals, students and the general population on topics related to neonatal pulse oximetry.Methodology: This is a descriptive study, experience report type, carried out between July 2019 and July 2021,before and during the Covid-19 pandemic, by students linked to the extension project of a reference university service in Rio Grande do Norte. The target audience of the training were students and professionals from the Medicine, Nursing and Nursing Technician course in the municipalities of Natal, Macaíba, Santa Cruz, Currais Novos, Mossoró and Caicó, in the state of Rio Grande do Norte. Training was carried out in person before the COVID-19 pandemic or remotely as an adaptation of activities during the pandemic period. The training methodology consisted of a pre-and post-test form aimed at evaluating the effectiveness of the training, in addition to theoretical foundations, theoretical-practical simulations and discussion of clinical cases. In addition, educational activities were promoted for the general population.Results:Training given to health professionals and students totaled 1212 participants. Events directed to the external environment, such as live broadcasts and audiovisual content on socialnetworks, reached 12,931 people. Promotion of scientific production involved the preparation of 95 papers approved in regional, national, and international congresses, as well as the organization of an international congress in the areas of Pediatrics andCardiology, with 29,007 registered participants. Conclusions: The importance of interventions to improve the line of care for children with heart disease was evidenced (AU).

Introducción: La oximetría de pulso neonatal forma parte del Programa Nacional de Tamizaje Neonatal en Brasil desde 2014. Sin embargo, existen pocos registros de su implementación efectiva en la atención materno-infantil de rutina en el país. Objetivo: El objetivo de este trabajo fue relatar la experiencia en acciones de educación en salud para profesionales y estudiantes del área de la salud y la población en general, sobre temas relacionados con El Test del Corazoncito. Metodología:Se trata de un estudiodescriptivo, del tipo relato de experiencia, realizado entre julio de 2019 y julio de 2021, antes y durante la pandemia de la Covid-19, por estudiantes vinculados al proyecto de extensión de un servicio universitario de referencia en Rio Grande Norte. El público objetivo de la capacitación fueron estudiantes y profesionales de la carrera de Medicina, Enfermería y Técnico en Enfermería de los municipios de Natal, Macaíba, Santa Cruz, Currais Novos, Mossoró y Caicó, en el estado de Rio Grande do Norte. La formación se realizó en formato presencial antes de la pandemia causada por el COVID-19 o a distancia como adaptación de las actividades durante el periodo de pandemia. La metodología de capacitación consistió en un formulario de pre y post test dirigido a evaluar la efectividad de la capacitación, además de fundamentos teóricos, simulacros teórico-prácticos y discusión de casos clínicos. Además, se promovieron actividades educativas para la población en general. Resultados:La formación impartida a profesionales y estudiantes de la salud totalizó 1212 participantes. Los eventos dirigidos al entorno externo, como retransmisiones en directo y contenidos audiovisuales en redes sociales, llegaron a 12.931 personas. El fomento de la producción científica implicó la elaboración de 95 trabajos aprobados en congresos regionales, nacionales e internacionales, así como la organización de un congreso internacional en las áreas de Pediatría y Cardiología, con 29.007 inscritos. Conclusiones:Se destacó la importancia de las intervenciones para mejorar la línea de atención a los niños con cardiopatías (AU).

Utilização do Potencial Auditivo de Estado Estável em lactentes com baixo risco para perda auditiva / Use of Auditory Steady State Response in infants at low risk for hearing loss / Uso del potencial auditivo de estado estacionario en bebés con bajo riesgo de pérdida auditiva

Introdução: Com base na necessidade do diagnóstico audiológico e da intervenção precoce na vida de uma criança com perda auditiva, faz-se necessário a elaboração de protocolos de avaliação auditiva que forneçam o maior número de informações. Objetivo: Analisar um programa de saúde auditiva infantil com relação à adesão à triagem auditiva e procedimentos de diagnóstico. Metodologia: Pesquisa de caráter transversal com análise quantitativa. Realizado em três etapas: 1ª etapa: triagem auditiva de neonatos de alojamento conjunto; 2ª etapa: reteste das falhas; 3ª etapa: diagnóstico audiológico dos lactentes que falharam nas etapas anteriores com a utilização do Potencial Evocado Auditivo de Estado Estável (PEAEE) em conjunto com o Potencial Evocado Auditivo de Tronco Encefálico (PEATE). Resultados: Em 2019, 1.898 neonatos foram triados e destes, 287 (15.2%) falharam na primeira testagem em pelo menos uma orelha. Um total de 197 (10.3%) foram retestados e 14 (0,73%) falharam em pelo menos uma orelha. Dez (0,52%) neonatos retornaram para diagnóstico compondo uma amostra homogênea de neonatos nascidos a termo. Um neonato apresentou perda auditiva unilateral. O tempo necessário para coleta de dados no PEAEE foi de 20 minutos. Conclusão: O PEAEE pode ser considerado uma alternativa a ser utilizado na bateria de testes na avaliação audiológica infantil, juntamente com outros procedimentos, utilizando-se do princípio de verificação cruzada e adicionando uma informação valiosa, especialmente com relação às baixas frequências. (AU)

Introduction: Based on the need for audiological diagnosis and intervention as soon as possible in the life of a child with hearing loss, it is necessary to elaborate of hearing evaluation protocols with high efficiency, which provide the greatest amount of information. Aim: To analyze a pediatric hearing health program regarding their adherence to hearing screening, failure rates, and diagnostic procedures. Method: This is a cross-sectional, descriptive, quantitative study, and consisted of tree stages: Performed in three steps: 1st step: hearing screening of rooming-in neonates; 2nd stage: retest of failures; 3rd stage: audiological diagnosis of infants who failed in the previous stages using the Steady State Response (ASSR) together with the Brainstem Evoked Response Audiometry (BERA). Results: In 2019, 1,898 infants were submitted to the program, of whom 287 (15.2%) failed the screening in at least one of the ears. A total of 197 (10.3%) infants attended the retest and 14 (0.73%) failed the TOAE in at least one of the ears. Ten (0.52%) infants returned for diagnosis. The sample was homogeneously full-term children. One child showed unilateral HL. The average amount of time required to collect information in the ASSR was 20 minutes. Conclusion: For diagnosis, ASSR can be an alternative to be used in the battery of examinations in pediatric hearing assessment along with the other procedures, using the cross-check principle and adding valuable information, especially regarding the low frequencies. (AU)

Introducción: En base a la necesidad de diagnóstico audiológico e intervención lo antes posibles en la vida de un niño con pérdida auditiva, es necesario elaborar protocolos de evaluación auditiva de alta eficiencia, que proporcionan la mayor cantidad de información. Objetivo: Analizar un programa de salud auditiva infantil en cuanto a la adherencia al tamizaje auditivo, tasa de fracaso y procedimientos diagnósticos. Metodología: Investigación transversal con análisis cuantitativo, Realizado en tres pasos: 1er paso: tamizaje auditivo de los neonatos en alojamiento conjunto; 2ª etapa: retest de fallas; 3ª etapa: diagnóstico audiológico de los lactantes que fracasaron en las etapas anteriores utilizando el Potencial Evocado Auditivo de Estado Estacionario junto con el Potencial Evocado Auditivo de Tallo Cerebral. Resultados: Em 2019, se cribaron 1,898 neonatos y de estos, 287 (15,2%) no pasaron la primera prueba en al menos un oído. Un total de 197 (10,3) fueron reevaluados y 14 (0,73%) fallaron en al menos un oído. Diez (0,52%) neonatos regresaron para diagnóstico, conformando una muestra homogénea de neonatos a término, con una edad gestacional media de 39 semanas y dos días. Un neonato tuvo pérdida auditiva unilateral. El tiempo de recogida de los resultados en el ASSR fue de 20 min. Conclusión: Para el diagnóstico, la ASSR puede considerarse una alternativa para ser utilizada en la batería de pruebas en la evaluación audiológica infantil, junto con otros procedimientos, utilizando el principio de verificación cruzada y agregando información valiosa, especialmente en lo que se refiere a las bajas frecuencia. (AU)

Epidemiological Profile of Neonates in Hearing Screening at a Maternity of a Tertiary Hospital in the state of Santa Catarina, Brazil

Abstract Introduction The newborn hearing screening (NHS) test aims the early diagnostic of hearing deficits that may also harm the full development of communication and learning of the affected child. Objective Trace the clinical and epidemiological profile of children born between July 2016 and July 2019; in addition to the outcome of the NHSs and factors related to failure in the hearing tests at a maternity of a tertiary hospital in Santa Catarina, Brazil. Methods The present is a cross-sectional study. A census of those born in the period defined for study was performed and a script was developed for the review of medical records, based on the literature. Results The sample can be considered homogeneous in relation to gender and age. The pregnant women had an average of 30.9 years. There were 30 neonates (1.9%) that did not undergo NHS. New evaluations were required in 288 patients (18.2%). Finally, 24 (1.5% of the population) remained with insufficient results in the retest. The following variables achieved statistical relevance with higher failure rates in tests and/or retests: natural delivery (p = 0.007), arterial hypertension present (p = 0.002), use of hydralazine (p = 0.038), and use of dipyrone in the test (p = 0.041) and retest (p = 0.003). Younger mothers had higher levels of normality in the test (p = 0.003) and retest (p = 0.161). The correlations between the other variables and the outcomes were not statistically significant. Conclusion False positives (62.8%) in the first test showed a value higher than the ideal goal; those who did not undergo the NHS (1.9%) and who needed evaluation by a specialist, due to failure in the retest (1.5%), are within the quality goals defined by the Joint Committee on Infant Hearing (JCIH) in 2007.

Análise de custo-efetividade do teste de oximetria de pulso na triagem de cardiopatias congênitas / Cost-effectiveness analysis of the pulse oximetry test in screening for congenital heart diseases

Resumo: Introdução: Trata-se de uma tese desenvolvida na Pós-graduação em Enfermagem, na Linha de Pesquisa de Políticas e Práticas de Saúde, Educação e Enfermagem, de maneira a agregar valor à atividade de monitoramento de recém-nascidos, abrangendo a esfera mundial. Seu caráter inovador e sua relevância são fortes, considerando haver cenários de não realização da Triagem de Oximetria de Pulso (TOP) ou de desenvolvimento de técnica incorreta, de maneira que poderá favorecer a ampliação de sua aplicabilidade. Aponta-se que as Cardiopatias Congênitas (CC) são as anomalias de maior incidência nos recém-nascidos, com impacto na Mortalidade Infantil. Seu diagnóstico precoce está relacionado aos melhores desfechos e à sustentabilidade do sistema de saúde. O TOP comprova a importância do impacto social do diagnóstico para a real prevenção dos desfechos mórbidos, das mortes, e dos custos em saúde. Objetivos: Determinar a acurácia do TOP para triagem de CC nas primeiras 48 horas de vida, conforme especificidade e sensibilidade; e, desenvolver análise de custo-efetividade do TOP para triagem de CC. Método: Realizada revisão sistemática de acurácia de teste diagnóstico conforme as recomendações do Jonna Briggs Institute. O protocolo está registrado na plataforma PROSPERO - CRD42021256286 - e, publicado em periódico. Foram selecionados estudos com recém-nascidos sem o diagnóstico prévio de CC, independentemente da idade gestacional ao nascimento, que realizaram o TOP entre as primeiras 48h após o nascimento, em comparação ao exame físico realizado por profissional da saúde, ou estudos que não apresentaram comparadores e sim o diagnóstico de interesse, as CC. Para a seleção dos estudos utilizaram-se bases de dados e a literatura cinzenta. A Análise de Custo-Efetividade foi realizada conforme diretriz do Ministério da Saúde e, sob a perspectiva do SUS - Sistema Único de Saúde. Os dados de custo aplicados foram os disponibilizados em bases de dados nacionais. O modelo foi de Árvore de Decisão, com horizonte temporal de um ano, considerando quatro intervenções: 1) sem o TOP; 2) TOP sem reteste; 3) TOP com 1 reteste e 4) TOP com 2 reteste. Resultados: Na Revisão Sistemática foram incluídos 29 estudos, obtendo-se população total de 388.491 recém-nascidos. O TOP demonstrou sensibilidade de 47% (IC 95%: 43% a 50%) e, especificidade de 98% (IC 95%: 98% a 98%). Em estudos que apresentavam retestes e que incluíram recém-nascidos prematuros foram realizadas análises dos subgrupos, conforme o tempo de nascimento para realização do teste entre 24-48h. Na análise de custo-efetividade evidenciou-se que não realizar o TOP culminou com a estratégia de custo mais elevado, de R$ 85,41 por paciente. Os recém-nascidos triados com TOP + dois retestes possuem uma redução de custo entre R$ 0,21 a R$ 38,78 por paciente, conforme o protocolo aplicado. Conclusão: Para o diagnóstico precoce de CC, o TOP se configura como um teste de moderada sensibilidade, alta especificidade e custo-efetivo. Apresenta relação com o diagnóstico precoce, e contribui com a referência oportuna para atenção em serviço de saúde especializado e de qualidade, desde que na esfera de gestão estejam estabelecidos os acessos. Esta pesquisa é replicável considerando o rigor metodológico, assim como seu desenvolvimento e apresentação.

Abstract: Introduction: This is a thesis developed in the Graduate Program in Nursing, in the Research Line of Health, Education and Nursing Policies and Practices, in order to add value to the activity of monitoring newborns, covering the sphere worldwide. Its innovative character is high, as well as its relevance, considering that there are scenarios of non-performance of Pulse Oximetry Screening (POS), or of development of an incorrect technique, thus favoring the expansion of its applicability. It is pointed out that Congenital Heart Defects (CHD) are the anomalies with the highest incidence in newborns, with an impact on Infant Mortality. Its early diagnosis is related to better outcomes and sustainability of the health system. The POS proves the importance of the social impact of the diagnosis, for the real prevention of morbid outcomes, deaths, and health costs. Objectives: To determine the accuracy of the POS for CHD screening in the first 48 hours of life, according to specificity and sensitivity; and, develop a costeffectiveness analysis of the POS for CHD screening. Method: A systematic review of diagnostic test accuracy was carried out according to the Jonna Briggs Institute recommendations. The protocol is registered on the PROSPERO platform - CRD42021256286 - and published in a journal. Selected studies with newborns without a previous diagnosis of CHD, regardless of gestational age at birth, that performed the POS within the first 48 hours after birth, compared to the physical examination performed by a health professional or studies that did not present comparators, and the diagnosis of interest was CHD. For the selection of studies, databases and gray literature were used. The Cost-Effectiveness Analysis was carried out according to the guidelines of the Ministry of Health and from the perspective of the UHS - Unified Health System. The cost data applied were those available in national databases. The model was a Decision Tree, with a time horizon of one year, considering four interventions: 1) without the POS; 2) POS without retest; 3) POS with 1 retest and 4) POS with 2 retests. Results: The Systematic Review included 29 studies, resulting in a total population of 388,491 newborns. The POS showed a sensitivity of 47% (CI 95%: 43% to 50%) and specificity of 98% (CI 95%: 98% to 98%). In studies that presented retests and that included premature newborns, subgroup analyzes were performed, according to the time of birth for the test to be performed between 24-48 hours. In the cost-effectiveness analysis, it was shown that not performing the POS resulted in the highest cost strategy, R$ 85.41 per patient. Newborns screened with TOP + two retests have a cost reduction of between R$ 0.21 and R$ 38.78 per patient, depending on the protocol applied. Conclusion: For the early diagnosis of CHD, the POS is configured as a test of moderate sensitivity, high specificity and cost-effective. It is related to early diagnosis, and contributes to the timely referral for care in specialized and quality health services, as long as the accesses are established in the management sphere. This research is replicable considering the clarity of its development and presentation.

Access to pediatric hearing healthcare in Rio Grande do Norte, Brazil / Acesso ao serviço de saúde auditiva infantil no Rio Grande do Norte, Brasil

INTRODUCTION: Hearing impairment compromises the child's language development and learning process. Neonatal screening, diagnosis, and hearing intervention are actions that must be carried out for comprehensive hearing healthcare in childhood. OBJECTIVE: To assess access to children's hearing healthcare services and the factors that influence access. METHODS: Cross-sectional study with 104 children who underwent neonatal hearing screening and were referred for diagnosis. The sources were the databases, where demographic, social, and variables related to the access and use of health services were collected. Percentage distribution of categorical variables and measures of central tendency and dispersion of continuous variables were performed. To assess the association of dependent and independent variables, the Chi-square test was used with a 5% significance level. RESULTS: Only 56 (53.3%) of screened children attended hearing healthcare services. Of these, 41 went to the studied service, and 24 completed the diagnosis. Three children had hearing loss and were candidates for cochlear implants. The mean age at diagnosis was 211 days and the standard deviation was 155.9 days. The duration of diagnosis was 135 days and the standard deviation was 143.2 days. There was no statistical significance between access to health services and the distance of the service, age, and education of the mother. CONCLUSION: There is a lack of access to the service and completion of the diagnosis and children are not assisted at appropriate ages. The mother's age and education and distance to the service did not influence access to and use of the service.

INTRODUÇÃO: A deficiência auditiva compromete o desenvolvimento da linguagem e o processo de aprendizagem na criança. A triagem neonatal, o diagnóstico e a intervenção auditiva são ações que devem ser realizadas para a atenção integral à saúde auditiva na infância. OBJETIVO: Avaliar o acesso aos serviços de saúde auditiva infantil e os fatores que influenciam no acesso. MÉTODOS: Estudo transversal com 104 crianças que realizaram a triagem auditiva neonatal e foram encaminhadas para diagnóstico. As fontes foram os bancos de dados, onde foram coletadas variáveis demográficas, sociais e relacionadas ao acesso e uso dos serviços de saúde. Foram realizadas a distribuição percentual das variáveis categóricas e medidas de tendência central e dispersão das variáveis contínuas. Para avaliar a associação das variáveis dependentes e independentes foi utilizado o teste Qui-quadrado com nível de 5% de significância. RESULTADOS: Apenas 56 (53,3%) crianças compareceram, dessas 41 foram para o serviço estudado, 24 concluíram o diagnóstico e 3 apresentaram deficiência auditiva. A média de idade no diagnóstico foi de 211 dias, com desvio padrão de 155,9 dias e a duração do diagnóstico foi de 135 dias, com desvio padrão de 143,2 dias. Não houve significância estatística entre o acesso ao serviço de saúde e a distância, idade e escolaridade da mãe. CONCLUSÃO: Existe uma evasão no acesso ao serviço e na conclusão do diagnóstico e as crianças não são assistidas em idades oportunas. A idade e escolaridade da mãe e a distância não influenciaram no acesso e uso ao serviço.

A multi-center study of biochemical and hotspot gene screening for neonatal genetic metabolic diseases / 中华实用儿科临床杂志

Objective:To investigate the efficiency of biochemical screening and hotspot gene screening in the detection of neonatal inherited metabolic diseases.Methods:This was a prospective multi-center study.The study was carried out on 21 442 neonatal samples collected from 12 hospitals in 10 provinces from November 2020 to November 2021.The results of biochemical screening and hotspot gene screening were analyzed jointly.Biochemical screening methods included glucose-6-phosphate dehydrogenase deficiency enzyme activity assay and neonatal tandem mass spectrometry.Genetic screening analysis involved 135 genes associated with 75 neonatal diseases.Results:Of all the 21 442 neonates enrolled in the study, 21 205 were subject to biochemical screening.A total of 813 cases were positive in the initial screening, and 0.45% of them (95 cases) were diagnosed after recall.All the 21 442 neonates underwent gene screening.About 168 positive cases were detected in the initial screening, and 0.73% (156 cases) of them were confirmed finally.Biochemical and genetic screening improved the detection sensitivity of such diseases as primary carnitine deficiency, neonatal intrahepatic cholestasis caused by citrin deficiency, and 2-methylbutyrylglycinemia.Moreover, biochemical and genetic screening enabled the detection of more diseases, including the common single-gene genetic diseases such as thalassemia and Wilson disease.Conclusions:In neonatal screening, the combination of biochemical screening and gene screening expands the number of diseases detected and improve screening efficiency.

Genetic analysis of neonates with abnormal isovaleryl carnitine metabolism / 中华实用儿科临床杂志

Objective:To explore the genetic causes of abnormal isovaleryl carnitine (C5) metabolism in newborns.Methods:Retrospective study.The screening and clinical follow-up data of 34 neonates with elevated C5 levels shown by the tandem mass spectrometry test in Children′s Hospital, Zhejiang University School of Medicine from January 2018 to December 2021 were collected.Afterwards, their ethylenediaminetetraacetic acid (EDTA) anticoagulant venous blood was collected to extract genomic DNA.A total of 79 genes related to genetic metabolic diseases, such as ACADSB, IVD and ACADM, were captured by liquid-phase capture technology.High-throughput sequencing and bioinformatics analysis were used to acquire gene variation information and the genes were categorized by American College of Medical Genetics and Genomics classification standard.According to the results of genetic analysis, the newborns with C5 elevation were divided into 3 groups: non-mutation group(11 cases), ACADSB mutation group(16 cases) and IVD mutation group(7 cases). Wilcoxon rank sum test was performed to analyze the difference between these groups. Results:Among 34 neonates, 6 ACADSB variants were detected in 16 cases, and 2 of them [c.461G>A (p.G154E), c.746delC(p.P249Lfs*15)] were novel variants.Eleven IVD variants were detected in 7 cases, and 7 of them [c.118A>G(p.N40D), c.296-10C>G, c.302A>G(p.Y101C), c.537G>A(p.M179I), c.667C>T(p.R223W), c.983A>G(p.K328R), c.1147+ 5G>A] were never reported before.There was no significant difference in the C5 concentration in initial screening among the three groups ( P>0.05). Conclusions:Mutations in ACADSB and IVD genes are the main causes of augmented C5 levels in neonatal screening.For newly discovered genetic variants, functional prediction by multiple bioinformatics analysis software is recommended.And it is also important to carry out clinical follow-up and evaluation.

Application value of C14∶1/C12∶1 for very long chain acyl-CoA dehydrogenase deficiency in newborn screening / 中华检验医学杂志

Objective:To establish the cut-off value of tetradecenoyl carnitine (C14∶1)/dodecenoyl carnitine(C12∶1) based on non-derivatized tandem mass spectrometry (MS/MS), and to explore the application value of C14∶1/C12∶1 to screen newborns for very long chain acyl-CoA dehydrogenase deficiency (VLCADD), determining the best combination of indicators for screening VLCADD.Methods:This retrospective study included data from 17 newborns with VLCADD detected by MS/MS and confirmed by acyl-CoA dehydrogenase very long chain ( ACADVL) gene detection, and 423 507 newborns with normal MS/MS results. The data from these newborns were collected from January 2014 to December 2021 as the newborns received neonatal screening in Nanjing Neonatal Disease Screening Center and Suzhou Neonatal Disease Screening Center. All newborns were divided into 3 groups: all newborns group, full-term newborns group and normal-birth-weight newborns group, and the cut-off values of C14∶1/C12∶1 for VLCADD in these 3 groups were determined by their receiver operating characteristic (ROC) curves individually. With these results, a total of 5 interpretation schemes were composed using different indicators alone or jointly: scheme 1 being C14∶1/C12∶1, scheme 2 being C14∶1, scheme 3 being C14∶1+C14∶1/C2+C14∶1/C16, scheme 4 being C14∶1/C12∶1+C14∶1, and scheme 5 being C14∶1/C12∶1+C14∶1+C14∶1/C2+C14∶1/C16. The detection rate, false-positive rate and positive predictive value of each scheme were calculated, and their screening efficiencies were statistically compared by Chi-square tests. Results:The cut-off values of C14∶1/C12∶1 for VLCADD in the 3 newborn groups were all 2.80. The detection rates of VLCADD with all 5 interpretation schemes were 17/17. Scheme 1 had the highest false positive rate [26.15‰ (11 075/423 524)] and the lowest positive predictive value [0.15% (17/11 092)]. Scheme 4 (Scheme 5) had the lowest false positive rate [0.02‰ (10/423 524)] and the highest positive predictive value [62.96% (17/27)]. Comparing scheme 4 (Scheme 5) with scheme 1, scheme 2 and scheme 3, the differences of false positive rate (χ2=302.30,11 191.50,32.06) and positive predictive value (χ2=102.51,3 485.61,13.83) were statistically significant (all P<0.001). Conclusion:C14∶1/C12∶1 was an effective auxiliary interpretive indicator for VLCADD in newborn screening, and the combination of C14∶1/C12∶1+C14∶1 was tested to be the best indicator for VLCADD screening based on non-derivatized tandem mass spectrometry.

Quality assessment of screening for neonatal inherited metabolic disease in Chaoyang District from 2012 to 2021 / 预防医学

Objective @#To evaluate the quality of neonatal inherited metabolic diseases screening in Chaoyang District, Beijing Municipality from 2012 to 2021, so as to provide insights into improvements in the screening quality and efficiency of neonatal inherited metabolic diseases. @*Methods@#Data pertaining to screening of neonatal inherited metabolic disease in Chaoyang District from 2012 to 2021 were captured from Beijing Center for Neonatal Disease Screening. The percentage of screening, eligible rate of blood smears collection, re-examination rate of suspected cases, and definitive diagnosis of congenital hypothyroidism (CH), phenylketonuria (PKU) and congenital adrenal hyperplasia (CAH) were analyzed to evaluate the quality of neonatal inherited metabolic diseases screening in Chaoyang District.@*Results@#There were 484 002 live neonates in Chaoyang District from 2012 to 2021, and 481 395 neonates were screened for inherited metabolic diseases, with a screening rate of 99.46% and 99.71% eligible rate of blood smears collection. A total of 4 305 suspected positive cases were screened, including 4 148 cases recalled for re-examinations, with a 96.35% re-examination rate of suspected cases, and the re-examination rates of CH, PKU and CAH were 96.37%, 96.79% and 95.65%, respectively. Totally 482 neonates were definitively diagnosed with inherited metabolic diseases, with an overall incidence rate of 1/999, and the incidence rates of CH (307 cases), hyperthyrotropinemia (103 cases), PKU (66 cases) and CAH (6 cases) were 1/1 568, 1/4 674, 1/7 294 and 1/20 233, respectively.@*Conclusions@#The screening rate and re-examination rate of neonatal inherited metabolic diseases was both more than 95% in Chaoyang District from 2012 to 2021. Improving the management of neonatal inherited metabolic diseases screening and the recall of suspected cases is required.

Conhecimento dos profissionais da Estratégia Saúde da Família sobre a triagem neonatal biológica / Knowledge of Family Health Strategy professionals about biological neonatal screening

A triagem neonatal biológica, popularmente conhecida como "teste do pezinho", é um teste preventivo capaz de identificar seis doenças em neonatos, sendo elas a Fenilcetonúria, o Hipotireoidismo Congênito, a Doença Falciforme e outras hemoglobinopatias, Fibrose Cística, Hiperplasia Adrenal Congênita e a Deficiência de Biotinidase. Este estudo objetivou avaliar o conhecimento dos profissionais da Estratégia Saúde da Família sobre a triagem neonatal biológica. Foi realizado um estudo descritivo, exploratório e de caráter quantitativo, desenvolvido com profissionais da equipe de Estratégia Saúde da Família nas Unidades Básicas de Saúde de um município no noroeste do estado do Paraná. Os dados foram coletados por meio de formulário na plataforma Google Forms e em material impresso, analisados descritivamente por meio de frequências absolutas e relativas. Evidenciaram-se que dos 69 profissionais pesquisados, 39 não sabem elencar quais doenças o teste identifica (56,5%), 28(40,6%) indicaram o período ideal como sendo entre o 3º e 5º dia de vida; e 20(29%), indicaram o período antes de 48 horas de vida, 46(66,7%) não se sente capacitado para orientar os pais sobre o teste. Após o nascimento da criança, 34(49,3%) não verificam se foi realizado o teste. Concluiu-se, portanto, que o conhecimento e atitude dos profissionais das Equipes de Estratégia Saúde da Família em relação à triagem neonatal biológica é insuficiente, e mostra a importância da educação permanente, que os profissionais ampliem seus conhecimentos e sintam-se seguros para orientar em relação ao teste do pezinho efetivamente.

Biological neonatal screening, popularly known as "heel prick test", is a preventive test capable of identifying six diseases in newborns, namely: Phenylketonuria, Congenital Hypothyroidism, Sickle Cell Disease and other haemoglobinopathies, Cystic Fibrosis, Congenital Adrenal Hyperplasia and Biotinidase deficiency. This study aimed to evaluate the knowledge of Family Health Strategy professionals about biological neonatal screening. A descriptive, exploratory and quantitative study was carried out, developed with professionals from the Family Health Strategy team in the Basic Health Units of a municipality in the northwest of the state of Paraná. Data was collected through a form on the Google Forms platform and in printed material, analyzed descriptively using absolute and relative frequencies. It was evidenced that of the 69 professionals surveyed, 39 do not know how to list which diseases the test identifies (56.5%), 28(40.6%) indicated the ideal period as being between the 3rd and 5th day of life; and 20(29%) indicated the period before 48 hours of life, 46 (66.7%) do not feel capable of guiding parents about the test. After the birth of the child, 34(49.3%) professionals did not verify whether the test was performed. It was concluded, therefore, that the knowledge and attitude of professionals from the Family Health Strategy Teams in relation to biological neonatal screening is insufficient, and shows the importance of continuing education, that professionals expand their knowledge and feel safe to guide in relation to the heel prick test effectively.