Improving the Sensitivity and Positive Predictive Value in a Cystic Fibrosis Newborn Screening Program Using a Repeat Immunoreactive Trypsinogen and Genetic Analysis.

[1]  K. Southern,et al.  Cystic fibrosis screen positive, inconclusive diagnosis , 2016, Current opinion in pulmonary medicine.

[2]  C. Castellani,et al.  Newborn screening for cystic fibrosis. , 2016, The Lancet. Respiratory medicine.

[3]  M. Pearl,et al.  Newborn Screening for Cystic Fibrosis in California , 2015, Pediatrics.

[4]  N. Derichs,et al.  Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A new designation and management recommendations for infants with an inconclusive diagnosis following newborn screening. , 2015, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

[5]  Norma P. Tavakoli,et al.  Utility of a very high IRT/No mutation referral category in cystic fibrosis newborn screening , 2015, Pediatric pulmonology.

[6]  D. Sanders,et al.  Outcomes of Infants With Indeterminate Diagnosis Detected by Cystic Fibrosis Newborn Screening , 2015, Pediatrics.

[7]  C. Castellani,et al.  Inconclusive Diagnosis of Cystic Fibrosis After Newborn Screening , 2015, Pediatrics.

[8]  Sarah Jane Schwarzenberg,et al.  European Cystic Fibrosis Society Standards of Care: Best Practice guidelines. , 2014, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

[9]  A. Thompson,et al.  Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California. , 2013, The Journal of molecular diagnostics : JMD.

[10]  L. Curnow,et al.  Lessons learned from 20 years of newborn screening for cystic fibrosis , 2011, The Medical journal of Australia.

[11]  P. Farrell,et al.  Optimal DNA tier for the IRT/DNA algorithm determined by CFTR mutation results over 14 years of newborn screening. , 2011, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

[12]  A. Tluczek,et al.  Psychosocial Consequences of False-Positive Newborn Screens for Cystic Fibrosis , 2011, Qualitative health research.

[13]  M. Petros.  Revisiting the Wilson-Jungner criteria: How can supplemental criteria guide public health in the era of genetic screening? , 2011, Genetics in medicine : official journal of the American College of Medical Genetics.

[14]  M. Rosenfeld,et al.  Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond. , 2009, The Journal of pediatrics.

[15]  F. Accurso,et al.  A new cystic fibrosis newborn screening algorithm: IRT/IRT1 upward arrow/DNA. , 2009, The Journal of pediatrics.

[16]  O. Sommerburg,et al.  European best practice guidelines for cystic fibrosis neonatal screening. , 2009, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

[17]  P. Farrell,et al.  Clarification of Laboratory and Clinical Variables That Influence Cystic Fibrosis Newborn Screening With Initial Analysis of Immunoreactive Trypsinogen , 2009, Pediatrics.

[18]  C. Castellani,et al.  A survey of newborn screening for cystic fibrosis in Europe. , 2007, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

[19]  M. Corey,et al.  Genetic and physiologic correlates of longitudinal immunoreactive trypsinogen decline in infants with cystic fibrosis identified through newborn screening. , 2006, The Journal of pediatrics.

[20]  R. Koscik,et al.  Newborn Screening for Cystic Fibrosis: Parents’ Preferences Regarding Counseling At the Time of Infants’ Sweat Test , 2006, Journal of Genetic Counseling.

[21]  R. Laessig,et al.  Newborn screening for cystic fibrosis in Wisconsin: nine-year experience with routine trypsinogen/DNA testing. , 2005, The Journal of pediatrics.

[22]  J. Zieleński,et al.  Two-tiered immunoreactive trypsinogen-based newborn screening for cystic fibrosis in Colorado: screening efficacy and diagnostic outcomes. , 2005, The Journal of pediatrics.

[23]  F. Accurso,et al.  Complications associated with symptomatic diagnosis in infants with cystic fibrosis. , 2005, The Journal of pediatrics.

[24]  R. Parad,et al.  Population-based newborn screening for genetic disorders when multiple mutation DNA testing is incorporated: a cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detections. , 2004, Pediatrics.

[25]  E. Zemanick,et al.  Newborn screening for cystic fibrosis , 2012, Current opinion in pediatrics.

[26]  B. Wilcken,et al.  Neonatal screening for cystic fibrosis: a comparison of two strategies for case detection in 1.2 million babies. , 1995, The Journal of pediatrics.

[27]  R. Laessig,et al.  Newborn screening for cystic fibrosis in Wisconsin: first application of population-based molecular genetics testing. , 1994, Wisconsin medical journal.

[28]  B. Wilfond,et al.  Application of DNA analysis in a population-screening program for neonatal diagnosis of cystic fibrosis (CF): comparison of screening protocols. , 1993, American journal of human genetics.

[29]  F. Accurso,et al.  Efficacy of statewide neonatal screening for cystic fibrosis by assay of trypsinogen concentrations. , 1991, The New England journal of medicine.

[30]  P. Gluckman,et al.  Neonatal screening for cystic fibrosis, using immunoreactive trypsin assay in dried blood spots. , 1981, Clinica chimica acta; international journal of clinical chemistry.

[31]  Ja Wilson,et al.  Principles and practice of screening for disease , 1968 .