October 2012. Volume 8. Number 3

New strategies for neonatal screening may reduce uncertainty in the diagnosis of cystic fibrosis

 
 
 
 
 
 
 
 
 
 
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AVC | Critically appraised articles

Vernooij-van Langen AM, Loeber JG, Elvers B, Triepels RH, Gille JJ, Van der Ploeg CP, et al. Novel strategies in newborn screening for cystic fibrosis: a prospective controlled study. Thorax. 2012;67:289-95.
Reviewers: Aparicio Rodrigo M1, Juanes de Toledo B2.
1Centro de Salud Entreví­as. Área 1. Madrid. España.
2EAP Collado Villalba. Collado Villalba. Madrid. España.
Correspondence: María Aparicio Rodrigo. Email: maparicio@salud.madrid.org
Reception date: 22/08/2012
Acceptance date: 23/08/2012
Publication date: 29/08/2012

Abstract

Authors´ conclusions: both strategies, inmunoreactive trypsinogen and pancreatitis-asociated protein or inmunoreactive trypsinogen and DNA mutation detection with sequencing if necessary, perform well as cystic fibrosis screening. The first one has more false positive results; the second needs DNA technology.The combination of both strategies could be the best option to reduce false positive results. Taking in account these aspects, local authorities must decide the best strategy.

Reviewers´ commentary: this study shows no extra benefits for inmunoreactive trypsinogen and pancreatitis-asociated protein, when compared to habitual screening strategies. Inmunoreactive trypsinogen and DNA mutation detection with sequencing if necessary, would allow to diminish the number of false positives but it would detect a greater number of carriers. The combination of both detects less number of carriers and equivocal diagnosis than the previous one. There is no data about economical cost. These two last tests would be two valid options to consider in screening programs of cystic fibrosis.

How to cite this article

Aparicio Rodrigo M, Juanes de Toledo B. Nuevas estrategias de cribado neonatal podrían disminuir la incertidumbre en el diagnóstico de la fibrosis quística. Evid Pediatr. 2012;8:63.

AVC | Critically appraised articles

Vernooij-van Langen AM, Loeber JG, Elvers B, Triepels RH, Gille JJ, Van der Ploeg CP, et al. Novel strategies in newborn screening for cystic fibrosis: a prospective controlled study. Thorax. 2012;67:289-95.
Reviewers: Aparicio Rodrigo M1, Juanes de Toledo B2.
1Centro de Salud Entreví­as. Área 1. Madrid. España.
2EAP Collado Villalba. Collado Villalba. Madrid. España.
Correspondence: María Aparicio Rodrigo. Email: maparicio@salud.madrid.org
Reception date: 22/08/2012
Acceptance date: 23/08/2012
Publication date: 29/08/2012

How to cite this article

Aparicio Rodrigo M, Juanes de Toledo B. Nuevas estrategias de cribado neonatal podrían disminuir la incertidumbre en el diagnóstico de la fibrosis quística. Evid Pediatr. 2012;8:63.

References

  1. Marín Soria JL, Aldamiz-Echevarria L, Castiñeiras Ramos DE, Dalmau Serra J, Fernández Sánchez A, González Lamuño D, et al. Programas de cribado neonatal en España: Actualización y propuestas de futuro. Documento de consenso. 31 de Mayo de 2009, Sociedad Española de Bioquímica Clínica y Patología Molecular [en línea] [fecha de consulta: 14-VIII-2012]. Disponible en: http://www.seqc.es/es/Publicaciones/2/18/Programas_de_cribado_neonatal_en_Espana:_actualizacion_y_propuestas_de_futuro/
  2. Mérelle ME, Nagelkerke AF, Lees CM, Dezateux C. Cribaje (screening) de la enfermedad fibroquística en el recién nacido (Revisión Cochrane traducida). En: La Biblioteca Cochrane Plus, 2006 Número 2. Oxford: Update Software Ltd. Disponible en: http://www.updatesoftware.com. (Traducida de The Cochrane Library, 2006 Issue 2. Chichester, UK: John Wiley & Sons, Ltd.).
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  4. Sarles J, Berthézène P, Le Louarn C, Somma C, Perini JM, Catheline M, et al. Combining immunoreactive trypsinogen and pancreatitis-associated protein assays, a method of newborn screening for cystic fibrosis that avoids DNA analysis. J Pediatr. 2005;147:302-5.
  5. Sommerburg O, Lindner M, Muckenthaler M, Kohlmueller D, Leible S, Feneberg R, et al. Initial evaluation of a biochemical cystic fibrosis newborn screening by sequential analysis of immunoreactive trypsinogen and pancreatitis-associated protein (IRT/PAP) as a strategy that does not involve DNA testing in a Northern European population. J Inherit Metab Dis. 2010;33:S263-71.
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29/08/2012

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