Neonatal screening for cystic fibrosis

Two groups of patients with cystic fibrosis were compared. The screened group, detected with an improved neonatal screening assay for immunoreactive trypsin, developed fewer chest infections requiring treatment and gained more weight than the unscreened group. Early diagnosis by screening seems to affect early morbidity.

Neonatal screening for amino acidaemias in Karnataka, south India

Consanguineous marriages are strongly favoured among the peoples of South India. Because of the potential genetic risks resulting from inbreeding, a neonatal screening project was established in 1980 in the state of Karnataka for the identification of amino acidaemias. To date, blood samples obtained by toe-stab from 98,256 neonates have been tested by thin layer chromatography, with 46 single and 70 general amino acidaemias detected. The coefficients of inbreeding (F) for the two groups of neonates were 0.0336 and 0.0350, by comparison with a previously determined F value for the general, new-born population of 0.0298. The most common single abnormality detected was tyrosinaemia, with spontaneous resolution in the majority of cases.

One-year evaluation of a neonatal screening program for cystic fibrosis in Switzerland

BACKGROUND From January 2011 onward, the Swiss newborn screening (NBS) program has included a test for cystic fibrosis (CF). In this study, we evaluate the first year of implementation of the CF-NBS program. METHODS The CF-NBS program consists of testing in two steps: a heel prick sample is drawn (= Guthrie test) for measurement of immunoreactive trypsinogen (IRT) and for DNA screening. All children with a positive screening test are referred to a CF center for further diagnostic testing (sweat test and genetic analysis). After assessment in the CF center, the parents are given a questionnaire. All the results of the screening process and the parent questionnaires were centrally collected and evaluated. RESULTS In 2011, 83 198 neonates were screened, 84 of whom (0.1%) had a positive screening result and were referred to a CF center. 30 of these 84 infants were finally diagnosed with CF (positive predictive value: 35.7%). There was an additional infant with CF and meconium ileus whose IRT value was normal. The 31 diagnosed children with CF correspond to an incidence of 1 : 2683. The average time from birth to genetically confirmed diagnosis was 34 days (range: 13-135). 91% of the parents were satisfied that their child had undergone screening. All infants receiving a diagnosis of CF went on to receive further professional care in a CF center. CONCLUSION The suggested procedure for CF-NBS has been found effective in practice; there were no major problems with its implementation. It reached high acceptance among physicians and parents.

Neonatal hearing screening in a low-risk maternity in São Paulo state

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Evaluation of growth and changes in body composition following neonatal diagnosis of cystic fibrosis

Early deficits in nutritional status that might require specific treatment and early response to nutritional therapy were studied longitudinally in 25 infants with cystic fibrosis (CF) diagnosed by neonatal screening, using anthropometric and research body composition methodology, and evaluation of pancreatic function. At the time of confirmed diagnosis (mean 5.4 weeks), body mass, length, total body fat (TBF), and total body potassium (TBK) were all significantly reduced. Following diagnosis and commencement of therapy there was a normalization of weight, length, and TBK by 6-12 months of age, indicating catch-up growth. But in some individuals the response was incomplete, and as a group, mean total body fat remained significantly lower than normal at 1 year of age. Seven of 25 (28%) were pancreatic sufficient at diagnosis, and all but one had evidence of declining pancreatic function requiring the institution of pancreatic enzyme therapy during the next 1-9 months. The median age of commencement of enzyme therapy was 10 weeks (range 5 weeks to 11 months). These longitudinal assessments emphasize the dynamic changes occurring in absorptive function, body composition, and nutritional status following neonatal diagnosis of cystic fibrosis and may reflect previously described abnormalities of energy metabolism in this age group. Abnormal body composition is evident in most CF infants following diagnosis by neonatal screening but pancreatic damage may still be evolving. We suggest that early active nutritional therapy and surveillance for changes in pancreatic function are warranted in CF infants diagnosed by neonatal screening.

Avaliação do custo-efetividade da incorporação do Espectômetro de Massa em Tandem no Programa Nacional de Triagem Neonatal no Brasil para diagnóstico da Fenilcetonúria e MCAD.

A Espectrometria de Massa em Tandem (MS/MS) é mundialmente considerada padrão ouro para a Triagem Neonatal (TN) de Erros Inatos do Metabolismo (IEM). Além de apresentar melhor sensibilidade e especificidade possibilita rastrear uma vasta gama de IEM usando um único teste. Atualmente o Programa Nacional de Triagem Neonatal (PNTN) rastreia cinco doenças (Fenilcetonúria, Hipotiroidismo Congênito, Fibrose Cística, Hemoglobinopatias e Deficiência da Biotinidase). Uma das metas do PNTN é o aprimoramento e a incorporação de novas doenças e/ou tecnologias. Com a recente recomendação da CONITEC (Comissão Nacional de Incorporação de Tecnologias) para aquisição do MS/MS para diagnóstico de doenças raras, vislumbra-se o incremento desta tecnologia para ampliação de doenças triadas, melhora da qualidade do teste diagnóstico, corroborando para melhorar qualidade de vida das crianças acometidas pelos EIM. Este trabalho teve como objetivo realizar uma análise de custo efetividade, para incorporação da tecnologia de tandem MS/MS na triagem neonatal, sob a perspectiva do SUS. Desta maneira buscou-se comparar diferentes cenários da TN com a tecnologia atualmente utilizada (Fluorimetria) somente para Fenilcetonúria (PKU), e com MS/MS para rastreio da PKU e da Deficiência de Cadeia Média Acyl-Coenzima Desidrogenase (MCAD). Para tanto construiu-se um modelo matemático de decisão baseados em cadeias de Markov que simulou a TN da PKU e da MCAD, bem como a história natural da MCAD. Foi acompanhada uma coorte hipotética de cem mil recém-nascidos. O horizonte temporal adotado foi a expectativa de vida da população brasileira de 78 anos de acordo com IBGE. Utilizou-se uma taxa de desconto de 5% para os custos e consequências clínicas para ambos os cenários propostos. Quando incorporado o MS/MS para triagem da PKU os ganhos em saúde continuaram os mesmos, pois o desempenho do MS/MS e da Fluorimetria foram praticamente iguais (efetividade), porém o custo incremental foi quatro vezes maior para a mesma efetividade, o que torna o MS/MS somente para PKU não custo efetiva (dominada). No entanto, quando analisado o cenário do MS/MS para triagem da PKU e da MCAD o custo incremental do MS/MS no PNTN foi menor por causa da economia feita uma vez que é possível realizar ambos os testes no mesmo o teste do pezinho atual.

Analysis of educational materials and destruction/opt-out initiatives for storage and use of residual newborn screening samples.

In recent years, the storage and use of residual newborn screening (NBS) samples has gained attention. To inform ongoing policy discussions, this article provides an update of previous work on new policies, educational materials, and parental options regarding the storage and use of residual NBS samples. A review of state NBS Web sites was conducted for information related to the storage and use of residual NBS samples in January 2010. In addition, a review of current statutes and bills introduced between 2005 and 2009 regarding storage and/or use of residual NBS samples was conducted. Fourteen states currently provide information about the storage and/or use of residual NBS samples. Nine states provide parents the option to request destruction of the residual NBS sample after the required storage period or the option to exclude the sample for research uses. In the coming years, it is anticipated that more states will consider policies to address parental concerns about the storage and use of residual NBS samples. Development of new policies regarding storage and use of residual NBS samples will require careful consideration of impact on NBS programs, parent and provider educational materials, and respect for parents among other issues.

Tamizaje neonatal para fibrosis quística en una muestra de la ciudad de Bogotá

La Fibrosis Quística es la enfermedad autosómica recesiva mas frecuente en caucásicos. En Colombia no se conoce la incidencia de la enfermedad, pero investigaciones del grupo de la Universidad del Rosario indican que podría ser relativamente alta. Objetivo: Determinar la incidencia de afectados por Fibrosis Quística en una muestra de recién nacidos de la ciudad de Bogotá. Metodología: Se analizan 8.297 muestras de sangre de cordón umbilical y se comparan tres protocolos de tamizaje neonatal: TIR/TIR, TIR/DNA y TIR/DNA/TIR. Resultados: El presente trabajo muestra una incidencia de 1 en 8.297 afectados en la muestra analizada. Conclusiones: Dada la relativamente alta incidencia demostrada en Bogotá, se justifica la implementación de Tamizaje Neonatal para Fibrosis Quística en Colombia.

The cost-effectiveness of universal newborn screening for bilateral permanent congenital hearing impairment : systematic review

Objective - Universal newborn hearing screening for bilateral permanent congenital hearing impairment is standard practice in many developed economies, but until there is clear evidence of cost-effectiveness, it remains a controversial use of limited health care resources. We conducted a formal systematic review of studies of newborn hearing screening that considered both costs and outcomes to produce a summary of the available evidence and to determine whether there was a need for further research.

Methods - A search was conducted of medical and nursing databases and gray literature websites by the use of multiple keywords. The titles and abstracts of studies were examined for preliminary inclusion if reference was made to newborn hearing screening, and to both costs and outcomes. Studies of potential relevance were independently assessed by 2 health economists for final inclusion in the review. Studies that met inclusion criteria were appraised by the use of existing guidelines for observational studies, economic evaluations and decision analytic models, and reported in a narrative literature review.

Results - There were 22 distinct observational or modeled evaluations of which only 2 clearly compared universal newborn hearing screening to risk factor screening for bilateral permanent congenital hearing impairment. Of these, the single evaluation that examined long-term costs and outcomes found that universal newborn hearing screening could be cost-saving if early intervention led to a substantial reduction in future treatment costs and productivity losses.

Conclusions - There are only a small number of economic evaluations that have examined the long-term cost-effectiveness of universal newborn hearing screening. This is partly attributable to ongoing uncertainty about the benefits gained from the early detection and treatment of bilateral permanent congenital hearing impairment. There is a clear need for further research on long-term costs and outcomes to establish the cost-effectiveness of universal newborn hearing screening in relation to other approaches to screening, and to establish whether it is a good long term investment.

Hemoglobina Köln diagnosticada em programa de triagem neonatal em São José do Rio Preto, SP

Alterações genéticas em que a mutação de aminoácidos nas globinas afeta a estrutura da molécula tornando-a instável são classificadas como hemoglobinas instáveis. Devido à grande diversidade dos pontos de mutações por substituições e deleções de aminoácidos, as formas de instabilização se apresentam muito variadas. A hemoglobina Köln é a variante instável descrita com maior freqüência na literatura e a terceira descoberta no Brasil, as outras são Hb Niterói e Hb Hasharon. Anemia moderada, icterícia e presença de urina escura caracterizam as manifestações clínicas da Hb Köln. em programa de triagem neonatal identificamos uma criança com suspeita de heterozigose para hemoglobina Köln, confirmada por procedimentos eletroforéticos e HPLC. Avaliações por diferentes metodologias laboratoriais e estudo familiar auxiliam no diagnóstico precoce, possibilitando minimizar os sintomas decorrentes da hemoglobina anormal e a realização do aconselhamento genético e educacional destas alterações hereditárias.

Adesão a um Programa de Triagem Auditiva Neonatal

A Triagem Auditiva Neonatal tem se efetivado mundialmente como meio para detecção precoce da surdez. Na Unicamp, desde 2002, os recém-nascidos na maternidade do Centro de Atenção Integral à Saúde da Mulher são agendados para a triagem auditiva no Centro de Estudos e Pesquisas em Reabilitação Prof. Dr. Gabriel Porto. No entanto, nem todos vêm para a triagem e alguns abandonam o processo de avaliação antes do diagnóstico. O objetivo desta pesquisa foi caracterizar as taxas de adesão de lactentes ao Programa de Triagem Auditiva Neonatal. Tratou-se de pesquisa que utilizou dados contidos nos prontuários dos lactentes que efetuaram a triagem no período de fevereiro a novembro de 2007. Permaneceram no alojamento conjunto do CAISM 2107 lactentes e vieram para a triagem 1310. Dentre aqueles que não passaram na triagem (92 lactentes), realizaram o exame de PEATE-A 73 lactentes. A adesão na primeira etapa da triagem foi de 62,17%, e na segunda, 79,34%. As taxas de adesão são inferiores às preconizadas pelo Joint Comittee on Infant Hearing e encontradas em alguns países desenvolvidos. No entanto, aproximam-se de outras experiências brasileiras de programas de triagem auditiva neonatal. O acompanhamento sistemático às famílias dos lactentes que não passaram na primeira avaliação e a conscientização destas sobre a detecção precoce da perda auditiva e suas consequências podem ter contribuído para o aumento da taxa de adesão na segunda etapa da triagem.

Análise das prevalências de doenças detectadas pelo programa nacional de triagem neonatal no município de Araraquara no ano de 2009

The National Neonatal Screening Program (NNSP) set up in all Brazil, aims, through planned phases of local implementation, to detect diseases such as phenylketonuria, congenital hypothyroidism, hemoglobinopathies and cystic fibrosis. The aim of this study was to assess, through a cross-sectional observational study, the prevalence of the diseases detected by the NNSP in the city of Araraquara, in records issued by the São Paulo APAE laboratory in the period between April and December 2009.The results show that Araraquara had a prevalence of phenylketonuria and congenital hypothyroidism 0.06% above the national averages of 0.01% and 0.03% respectively. With respect to hemoglobinopathies, the prevalence of sickle cell trait was 2.15% below the national average of 2.6%. The prevalence of Hb C in the city was 0.57%, similar to national values reported in the literature. Confirmed Hb Bart's had a prevalence of 0.13% in Araraquara, below the average of 0.38% for the surrounding region. The neonatal screening by heel-prick test and counseling for caregivers are important factors in reducing morbidity related to the evolution of these diseases.

Mineração de dados em triagem neonatal de hemoglobinopatias

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Triagem auditiva neonatal universal: a experiência de dois hospitais públicos no município de Campo Grande - MS, no período de janeiro de 2002 a dezembro de 2005

Pós-graduação em Pediatria - FMB

The importance of retesting the hearing screening as an indicator of the real early hearing disorder

Early diagnosis of hearing loss minimizes its impact on child development. We studied factors that influence the effectiveness of screening programs. To investigate the relationship between gender, weight at birth, gestational age, risk factors for hearing loss, venue for newborn hearing screening and pass and fail results in the retest. Prospective cohort study was carried out in a tertiary referral hospital. The screening was performed in 565 newborns through transient evoked otoacoustic emissions in three admission units before hospital discharge and retest in the outpatient clinic. Gender, weight at birth, gestational age, presence of risk indicators for hearing loss and venue for newborn hearing screening were considered. Full-term infants comprised 86% of the cases, preterm 14%, and risk factors for hearing loss were identified in 11%. Considering the 165 newborns retested, only the venue for screening, Intermediate Care Unit, was related to fail result in the retest. Gender, weight at birth, gestational age and presence of risk factors for hearing loss were not related to pass and/or fail results in the retest. The screening performed in intermediate care units increases the chance of continued fail result in the Transient Otoacoustic Evoked Emissions test.