US Newborn Screening System Guidelines II: Follow-up of Children, Diagnosis, Management, and Evaluation Statement of the Council of Regional Networks for Genetic Services (CORN)

Pass, Kenneth A.; Lane, Peter A.; Fernhoff, Paul M.; Hinton, Cynthia F.; Panny, Susan R.; Parks, John S.; Pelias, Mary Z.; Rhead, William J.; Ross, Sonya I.; Wethers, Doris L.; Elsas, Louis J.

doi:10.1067/mpd.2000.109437

Cited by 135 publications

(106 citation statements)

References 18 publications

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“…NDBS program development is continuing to expand in developing countries, particularly in the Asia Pacific (Padilla and Therrell 2007;Padilla et al 2010), Middle East and North Africa (Saadallah and Rashed 2007;Krotoski et al 2009), and Latin America (Borrajo 2007), providing early identification of conditions for which timely interventions can help eliminate or reduce associated mortality, morbidity, and disabilities. NDBS systems are generally viewed as having six components that include education, screening, follow-up, diagnosis, treatment/management, and evaluation/continuous quality improvement (Therrell 2001;Pass et al 2000;Therrell et al 1992). Data that document related activities, including the extent to which clinical genetic services such as genetic counseling are available and utilized, are important for quality assessment and improvement.…”

Section: Introductionmentioning

confidence: 99%

“…It is generally recognized that clinical genetic services are among the timely and appropriate services required by newborns and their families who have been identified with most conditions through NDBS (Pass et al 2000;Ciske et al 2001; American Academy of Pediatrics, Section on Hematology/Oncology, Committee on Genetics. 2002).…”

Section: Introductionmentioning

confidence: 99%

“…Follow-up, both short-and long-term, is vital in facilitating early diagnosis, intervention, and management of affected newborns and their families. Short-term follow-up (STFU) and long-term follow-up (LTFU) have been variously defined, with definitions changing over time (Pass et al 2000;Tuerck et al 2006;American College of Medical Genetics' Expert Group. 2006;Kemper et al 2008).The endpoint for STFU is understood generally to be the point at which a definitive diagnosis has been documented and appropriate treatment/ management has been initiated.…”

Section: Introductionmentioning

confidence: 99%

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Tracking clinical genetic services for newborns identified through newborn dried bloodspot screening in the United States—lessons learned

et al. 2011

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To determine how US newborn dried bloodspot screening (NDBS) programs obtain patient-level data on clinical genetic counseling services offered to families of newborns identified through newborn NDBS and the extent to which newborns and their families receive these services. These data should serve to inform programs and lead to improved NDBS follow-up services. Collaborations were established with three state NDBS programs that reported systematically tracking genetic counseling services to newborns and their families identified through NDBS. A study protocol and data abstraction form were developed and IRB approvals obtained. Data from three state NDBS programs on a total of 151 patients indicated that genetic services are documented systematically only by metabolic genetic services; as expected higher for congenital adrenal hyperplasia than congenital hypothyroidism. Endocrinology patients were often counseled by physicians. While systematic tracking of genetic counseling services may be desirable for quality assurance of NDBS follow-up services, current systems do not appear conducive to this practice. Clinical records are not typically shared with NDBS programs and tracking of follow-up clinical genetic services has not been generally defined as a NDBS program responsibility. Rather, tracking of clinical services, while recognized as useful data, has been viewed by NDBS programs as a research project. The associated IRB requirements for patient-related research may pose an additional challenge. National guidance for NDBS programs that define quality genetic service indicators and monitoring responsibilities are needed. US experiences in this regard may provide information that can assist developing programs in avoiding tracking issues.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Tracking clinical genetic services for newborns identified through newborn dried bloodspot screening in the United States—lessons learned

et al. 2011

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“…Para a triagem da PKU, também se deve esperar pelo menos 48 horas de vida da criança, quando ela já recebeu leite suficiente para que haja acúmulo de fenilalanina no sangue, caso seja afetada 15 . Em nosso programa, a idade média de coleta do exame melhorou muito desde o início do programa, diminuindo de 17 dias para oito dias, o que deve refletir o empenho do Ministério da Saúde, Secretarias Municipais de Saúde e Centros de Triagem para a divulgação do 20 .…”

Section: Discussionunclassified

Programa de Triagem Neonatal do Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Brasil

et al. 2009

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“…Para o ótimo funcionamento de um sistema de triagem, é necessário que o laboratório esteja plenamente capacitado para realização do exame, seguindo as recomendações de capacitação de pessoal, controle de qualidade e realização periódica de testes de proficiência. O controle de qualidade de tal laboratório deve incluir, além da análise de amostras-controle e adoção de padrões, consideração constante da sensibilidade, especificidade, valor preditivo positivo (VPP) e negativo (VPN) 20 .…”

Section: Discussionunclassified

Triagem neonatal para infecção chagásica congênita: aplicação de análise de classe latente para avaliação dos testes diagnósticos

Andrade¹,

Gontijo

2008

Rev. Soc. Bras. Med. Trop.

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RESUMOO presente estudo tem como objetivo avaliar os testes sorológicos convencionais usados na triagem neonatal para doença de Chagas, discutindo métodos estatísticos disponíveis. Estudou-se uma amostra aleatória dentre 23.308 recém-nascidos triados para doença de Chagas congênita por meio de três testes: imunoensaioenzimático, imunofluorescência indireta e hemoaglutinação indireta. Os dados obtidos foram analisados por diferentes metodologias estatísticas: a análise de classe latente, o teste Kappa e a análise de sensibilidade relativa. Utilizando a análise de classe latente, a maior sensibilidade foi do imunoensaioenzimático (48,6%), seguido pela imunofluorescência indireta (39,8%) e pela hemoaglutinação indireta (23,2% ABSTRACTThe present study had the aim of evaluating conventional serum tests that are used in neonatal screening for Chagas disease, with a discussion on the statistical methods available. A random sample among 23,308 newborns who were screened for congenital Chagas disease was studied using the following three tests: enzyme immunoassay, indirect immunofluorescence and indirect hemagglutination. The data were analyzed by different statistical methodologies: latent class analysis, Kappa test and relative sensitivity analysis. Using latent class analysis, enzyme immunoassay had the highest sensitivity (48.6%), followed by indirect immunofluorescence (39.8%) and indirect hemagglutination (23.2%). The kappa value was 0.496. The ratio between the sensitivities of enzyme immunoassays and indirect immunofluorescence tests was 92% [0.74;1.13]. Latent class analysis was not found to be adequate for sensitivity and specificity determination, but it provided important data about the equivalence of the tests, corroborated by relative sensitivity analysis. The results showed that enzyme immunoassaying of dry blood samples can be used as safely as the indirect immunofluorescence test. Com a efetividade crescente no controle da transmissão transfusional nos serviços de hemoterapia, por uma rigorosa triagem soro-epidemiológica 9 , mecanismos alternativos de transmissão 24 vêm sendo colocados em evidência, com destaque para a transmissão congênita, que parece ser uma das principais formas de transmissão nos dias atuais. Key-words:A taxa de transmissão vertical do Trypanosoma cruzi é baixa (em torno de 1% 6 25 ). No entanto, a maioria das crianças infectadas (60-90%) 18 não apresenta manifestações clínicas e o tratamento etiológico resulta em elevados índices de cura 3 10 . Impõe-se, portanto, a escolha de estratégias de abordagem

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US Newborn Screening System Guidelines II: Follow-up of Children, Diagnosis, Management, and Evaluation Statement of the Council of Regional Networks for Genetic Services (CORN)

Cited by 135 publications

References 18 publications

Tracking clinical genetic services for newborns identified through newborn dried bloodspot screening in the United States—lessons learned

Tracking clinical genetic services for newborns identified through newborn dried bloodspot screening in the United States—lessons learned

Programa de Triagem Neonatal do Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Brasil

Triagem neonatal para infecção chagásica congênita: aplicação de análise de classe latente para avaliação dos testes diagnósticos

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