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Volumn 175, Issue , 2016, Pages 150-158.e1

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

Author keywords

accuracy; carriers; cystic fibrosis related metabolic syndrome; neonatal screening

Indexed keywords

TRYPSINOGEN; BIOLOGICAL MARKER; CFTR PROTEIN, HUMAN; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; GENETIC MARKER;

EID: 84964680919     PISSN: 00223476     EISSN: 10976833     Source Type: Journal    
DOI: 10.1016/j.jpeds.2016.03.046     Document Type: Article
Times cited : (36)

References (33)
  • 3
    • 84857826496 scopus 로고    scopus 로고
    • Lessons learned from 20 years of newborn screening for cystic fibrosis
    • Massie, R.J., Curnow, L., Glazner, J., Armstrong, D.S., Francis, I., Lessons learned from 20 years of newborn screening for cystic fibrosis. Med J Aust 196 (2012), 67–70.
    • (2012) Med J Aust , vol.196 , pp. 67-70
    • Massie, R.J.1    Curnow, L.2    Glazner, J.3    Armstrong, D.S.4    Francis, I.5
  • 5
    • 0019479972 scopus 로고
    • Neonatal screening for cystic fibrosis, using immunoreactive trypsin assay in dried blood spots
    • Crossley, J.R., Smith, P.A., Edgar, B.W., Gluckman, P.D., Elliott, R.B., Neonatal screening for cystic fibrosis, using immunoreactive trypsin assay in dried blood spots. Clin Chim Acta 113 (1981), 111–121.
    • (1981) Clin Chim Acta , vol.113 , pp. 111-121
    • Crossley, J.R.1    Smith, P.A.2    Edgar, B.W.3    Gluckman, P.D.4    Elliott, R.B.5
  • 6
    • 33751113932 scopus 로고    scopus 로고
    • Genetic and physiologic correlates of longitudinal immunoreactive trypsinogen decline in infants with cystic fibrosis identified through newborn screening
    • Sontag, M.K., Corey, M., Hokanson, J.E., Marshall, J.A., Sommer, S.S., Zerbe, G.O., et al. Genetic and physiologic correlates of longitudinal immunoreactive trypsinogen decline in infants with cystic fibrosis identified through newborn screening. J Pediatr 149 (2006), 650–657.
    • (2006) J Pediatr , vol.149 , pp. 650-657
    • Sontag, M.K.1    Corey, M.2    Hokanson, J.E.3    Marshall, J.A.4    Sommer, S.S.5    Zerbe, G.O.6
  • 7
    • 0025936890 scopus 로고
    • Efficacy of statewide neonatal screening for cystic fibrosis by assay of trypsinogen concentrations
    • Hammond, K.B., Abman, S.H., Sokol, R.J., Accurso, F.J., Efficacy of statewide neonatal screening for cystic fibrosis by assay of trypsinogen concentrations. N Engl J Med 325 (1991), 769–774.
    • (1991) N Engl J Med , vol.325 , pp. 769-774
    • Hammond, K.B.1    Abman, S.H.2    Sokol, R.J.3    Accurso, F.J.4
  • 8
    • 0027527564 scopus 로고
    • Application of DNA analysis in a population-screening program for neonatal diagnosis of cystic fibrosis (CF): comparison of screening protocols
    • Gregg, R.G., Wilfond, B.S., Farrell, P.M., Laxova, A., Hassemer, D., Mischler, E.H., Application of DNA analysis in a population-screening program for neonatal diagnosis of cystic fibrosis (CF): comparison of screening protocols. Am J Hum Genet 52 (1993), 616–626.
    • (1993) Am J Hum Genet , vol.52 , pp. 616-626
    • Gregg, R.G.1    Wilfond, B.S.2    Farrell, P.M.3    Laxova, A.4    Hassemer, D.5    Mischler, E.H.6
  • 9
    • 0028003703 scopus 로고
    • Newborn screening for cystic fibrosis in Wisconsin: first application of population-based molecular genetics testing
    • Farrell, P.M., Aronson, R.A., Hoffman, G., Laessig, R.H., Newborn screening for cystic fibrosis in Wisconsin: first application of population-based molecular genetics testing. Wis Med J 93 (1994), 415–421.
    • (1994) Wis Med J , vol.93 , pp. 415-421
    • Farrell, P.M.1    Aronson, R.A.2    Hoffman, G.3    Laessig, R.H.4
  • 10
    • 0029558007 scopus 로고
    • Neonatal screening for cystic fibrosis: a comparison of two strategies for case detection in 1.2 million babies
    • Wilcken, B., Wiley, V., Sherry, G., Bayliss, U., Neonatal screening for cystic fibrosis: a comparison of two strategies for case detection in 1.2 million babies. J Pediatr 127 (1995), 965–970.
    • (1995) J Pediatr , vol.127 , pp. 965-970
    • Wilcken, B.1    Wiley, V.2    Sherry, G.3    Bayliss, U.4
  • 11
    • 0942285246 scopus 로고    scopus 로고
    • 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
    • Comeau, A.M., Parad, R.B., Dorkin, H.L., Dovey, M., Gerstle, R., Haver, K., 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. Pediatrics 113 (2004), 1573–1581.
    • (2004) Pediatrics , vol.113 , pp. 1573-1581
    • Comeau, A.M.1    Parad, R.B.2    Dorkin, H.L.3    Dovey, M.4    Gerstle, R.5    Haver, K.6
  • 12
    • 79958244519 scopus 로고    scopus 로고
    • Optimal DNA tier for the IRT/DNA algorithm determined by CFTR mutation results over 14 years of newborn screening
    • Baker, M.W., Groose, M., Hoffman, G., Rock, M., Levy, H., Farrell, P.M., Optimal DNA tier for the IRT/DNA algorithm determined by CFTR mutation results over 14 years of newborn screening. J Cyst Fibros 10 (2011), 278–281.
    • (2011) J Cyst Fibros , vol.10 , pp. 278-281
    • Baker, M.W.1    Groose, M.2    Hoffman, G.3    Rock, M.4    Levy, H.5    Farrell, P.M.6
  • 13
    • 77449133011 scopus 로고    scopus 로고
    • 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
    • Borowitz, D., Parad, R.B., Sharp, J.K., Sabadosa, K.A., Robinson, K.A., Rock, M.J., 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. J Pediatr 155 (2009), S106–S116.
    • (2009) J Pediatr , vol.155 , pp. S106-S116
    • Borowitz, D.1    Parad, R.B.2    Sharp, J.K.3    Sabadosa, K.A.4    Robinson, K.A.5    Rock, M.J.6
  • 14
    • 84930160557 scopus 로고    scopus 로고
    • Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): a new designation and management recommendations for infants with an inconclusive diagnosis following newborn screening
    • Munck, A., Mayell, S.J., Winters, V., Shawcross, A., Derichs, N., Parad, R., et al. Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): a new designation and management recommendations for infants with an inconclusive diagnosis following newborn screening. J Cyst Fibros 14 (2015), 706–713.
    • (2015) J Cyst Fibros , vol.14 , pp. 706-713
    • Munck, A.1    Mayell, S.J.2    Winters, V.3    Shawcross, A.4    Derichs, N.5    Parad, R.6
  • 15
    • 71749104942 scopus 로고    scopus 로고
    • A new cystic fibrosis newborn screening algorithm: IRT/IRT1/DNA
    • Sontag, M.K., Wright, D., Beebe, J., Accurso, F.J., Sagel, S.D., A new cystic fibrosis newborn screening algorithm: IRT/IRT1/DNA. J Pediatr 155 (2009), 618–622.
    • (2009) J Pediatr , vol.155 , pp. 618-622
    • Sontag, M.K.1    Wright, D.2    Beebe, J.3    Accurso, F.J.4    Sagel, S.D.5
  • 16
    • 61549085334 scopus 로고    scopus 로고
    • Clarification of laboratory and clinical variables that influence cystic fibrosis newborn screening with initial analysis of immunoreactive trypsinogen
    • Kloosterboer, M., Hoffman, G., Rock, M., Gershan, W., Laxova, A., Li, Z., et al. Clarification of laboratory and clinical variables that influence cystic fibrosis newborn screening with initial analysis of immunoreactive trypsinogen. Pediatrics 123 (2009), e338–e346.
    • (2009) Pediatrics , vol.123 , pp. e338-e346
    • Kloosterboer, M.1    Hoffman, G.2    Rock, M.3    Gershan, W.4    Laxova, A.5    Li, Z.6
  • 19
    • 84901006449 scopus 로고    scopus 로고
    • European Cystic Fibrosis Society standards of care: best Practice guidelines
    • Smyth, A.R., Bell, S.C., Bojcin, S., Bryon, M., Duff, A., Flume, P., et al. European Cystic Fibrosis Society standards of care: best Practice guidelines. J Cyst Fibros 13:Suppl 1 (2014), S23–S42.
    • (2014) J Cyst Fibros , vol.13 , pp. S23-S42
    • Smyth, A.R.1    Bell, S.C.2    Bojcin, S.3    Bryon, M.4    Duff, A.5    Flume, P.6
  • 20
    • 25844445259 scopus 로고    scopus 로고
    • Newborn screening for cystic fibrosis in Wisconsin: nine-year experience with routine trypsinogen/DNA testing
    • Rock, M.J., Hoffman, G., Laessig, R.H., Kopish, G.J., Litsheim, T.J., Farrell, P.M., Newborn screening for cystic fibrosis in Wisconsin: nine-year experience with routine trypsinogen/DNA testing. J Pediatr 147 (2005), S73–S77.
    • (2005) J Pediatr , vol.147 , pp. S73-S77
    • Rock, M.J.1    Hoffman, G.2    Laessig, R.H.3    Kopish, G.J.4    Litsheim, T.J.5    Farrell, P.M.6
  • 21
    • 25844520151 scopus 로고    scopus 로고
    • Two-tiered immunoreactive trypsinogen-based newborn screening for cystic fibrosis in Colorado: screening efficacy and diagnostic outcomes
    • Sontag, M.K., Hammond, K.B., Zielenski, J., Wagener, J.S., Accurso, F.J., Two-tiered immunoreactive trypsinogen-based newborn screening for cystic fibrosis in Colorado: screening efficacy and diagnostic outcomes. J Pediatr 147 (2005), S83–S88.
    • (2005) J Pediatr , vol.147 , pp. S83-S88
    • Sontag, M.K.1    Hammond, K.B.2    Zielenski, J.3    Wagener, J.S.4    Accurso, F.J.5
  • 22
    • 78651243401 scopus 로고    scopus 로고
    • Psychosocial consequences of false-positive newborn screens for cystic fibrosis
    • Tluczek, A., Orland, K.M., Cavanagh, L., Psychosocial consequences of false-positive newborn screens for cystic fibrosis. Qual Health Res 21 (2011), 174–186.
    • (2011) Qual Health Res , vol.21 , pp. 174-186
    • Tluczek, A.1    Orland, K.M.2    Cavanagh, L.3
  • 23
    • 33747437686 scopus 로고    scopus 로고
    • Newborn screening for cystic fibrosis: parents' preferences regarding counseling at the time of infants' sweat test
    • Tluczek, A., Koscik, R.L., Modaff, P., Pfeil, D., Rock, M.J., Farrell, P.M., et al. Newborn screening for cystic fibrosis: parents' preferences regarding counseling at the time of infants' sweat test. J Genet Couns 15 (2006), 277–291.
    • (2006) J Genet Couns , vol.15 , pp. 277-291
    • Tluczek, A.1    Koscik, R.L.2    Modaff, P.3    Pfeil, D.4    Rock, M.J.5    Farrell, P.M.6
  • 24
    • 84882269533 scopus 로고    scopus 로고
    • Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California
    • Prach, L., Koepke, R., Kharrazi, M., Keiles, S., Salinas, D.B., Reyes, M.C., et al. Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California. J Mol Diagn 15 (2013), 710–722.
    • (2013) J Mol Diagn , vol.15 , pp. 710-722
    • Prach, L.1    Koepke, R.2    Kharrazi, M.3    Keiles, S.4    Salinas, D.B.5    Reyes, M.C.6
  • 25
    • 85028116988 scopus 로고    scopus 로고
    • Revisiting the Wilson-Jungner criteria: how can supplemental criteria guide public health in the era of genetic screening?
    • Petros, M., Revisiting the Wilson-Jungner criteria: how can supplemental criteria guide public health in the era of genetic screening?. Genet Med 14 (2012), 129–134.
    • (2012) Genet Med , vol.14 , pp. 129-134
    • Petros, M.1
  • 26
    • 0003522678 scopus 로고
    • Principles and practice of screening for disease
    • World Health Organization Geneva, Switzerland
    • Wilson, J.M.G., Jungner, G., Principles and practice of screening for disease. 1968, World Health Organization, Geneva, Switzerland.
    • (1968)
    • Wilson, J.M.G.1    Jungner, G.2
  • 27
    • 84930150429 scopus 로고    scopus 로고
    • Outcomes of infants with indeterminate diagnosis detected by cystic fibrosis newborn screening
    • Ren, C.L., Fink, A.K., Petren, K., Borowitz, D.S., McColley, S.A., Sanders, D.B., et al. Outcomes of infants with indeterminate diagnosis detected by cystic fibrosis newborn screening. Pediatrics 135 (2015), e1386–e1392.
    • (2015) Pediatrics , vol.135 , pp. e1386-e1392
    • Ren, C.L.1    Fink, A.K.2    Petren, K.3    Borowitz, D.S.4    McColley, S.A.5    Sanders, D.B.6
  • 28
    • 84930586814 scopus 로고    scopus 로고
    • Inconclusive diagnosis of cystic fibrosis after newborn screening
    • Ooi, C.Y., Castellani, C., Keenan, K., Avolio, J., Volpi, S., Boland, M., et al. Inconclusive diagnosis of cystic fibrosis after newborn screening. Pediatrics 135 (2015), e1377–e1385.
    • (2015) Pediatrics , vol.135 , pp. e1377-e1385
    • Ooi, C.Y.1    Castellani, C.2    Keenan, K.3    Avolio, J.4    Volpi, S.5    Boland, M.6
  • 29
    • 25844486482 scopus 로고    scopus 로고
    • Complications associated with symptomatic diagnosis in infants with cystic fibrosis
    • Accurso, F.J., Sontag, M.K., Wagener, J.S., Complications associated with symptomatic diagnosis in infants with cystic fibrosis. J Pediatr 147 (2005), S37–S41.
    • (2005) J Pediatr , vol.147 , pp. S37-S41
    • Accurso, F.J.1    Sontag, M.K.2    Wagener, J.S.3
  • 31
    • 85053639138 scopus 로고    scopus 로고
    • Delays at hospitals across the country undermine newborn screening programs, putting babies at risk of disability and death
    • Milwaukee Journal Sentinal Journal Sentinal, Inc Milwaukee, WI
    • Gabler, E., Delays at hospitals across the country undermine newborn screening programs, putting babies at risk of disability and death. Milwaukee Journal Sentinal, 2013, Journal Sentinal, Inc, Milwaukee, WI.
    • (2013)
    • Gabler, E.1
  • 32
    • 85027215535 scopus 로고    scopus 로고
    • Testing delay puts newborn's life at risk
    • Milwaukee Journal Sentinal Journal Sentinal, Inc Milwaukee, WI
    • Johnson, M., Testing delay puts newborn's life at risk. Milwaukee Journal Sentinal, 2013, Journal Sentinal, Inc, Milwaukee, WI.
    • (2013)
    • Johnson, M.1
  • 33
    • 85027215186 scopus 로고    scopus 로고
    • More than half of state labs do not process newborn samples on weekends, creating critical delays in the process
    • Milwaukee Journal Sentinal Journal Sentinal, Inc Milwaukee, WI
    • Fauber, J., More than half of state labs do not process newborn samples on weekends, creating critical delays in the process. Milwaukee Journal Sentinal, 2013, Journal Sentinal, Inc, Milwaukee, WI.
    • (2013)
    • Fauber, J.1


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