European best practice guidelines for cystic fibrosis neonatal screening

Prosser, 1974, Screening for cystic fibrosis by examination of meconium, Arch Dis Child, 49, 597, 10.1136/adc.49.8.597 Crossley, 1979, Dried-blood spot screening for cystic fibrosis in the newborn, Lancet, 1, 472, 10.1016/S0140-6736(79)90825-0 Wilcken, 1983, Cystic fibrosis screening by dried blood spot trypsin assay: results in 75,000 newborn infants, J Pediatr, 102, 383, 10.1016/S0022-3476(83)80653-2 Travert, 1983, Systematic neonatal screening for mucoviscidosis using an immunoreactive trypsin blood assay. Evaluation of 80,000 tests, Arch Fr Pediatr, 295 Heeley, 1982, Screening for cystic fibrosis by dried blood spot trypsin assay, Arch Dis Child, 57, 18 Travert, 1989, Analyse[ED3] Langtype (French)] de l'expérience mondiale de dépistage néonatal de la mucoviscidose par dosage de la trypsine immunoréactive sanguine Rommens, 1989, Identification of the cystic fibrosis gene: chromosome walking and jumping, Science, 245, 1059, 10.1126/science.2772657 Riordan, 1989, Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA, Science, 245, 1066, 10.1126/science.2475911 Kerem, 1989, Identification of the cystic fibrosis gene: genetic analysis, Science, 245, 1073, 10.1126/science.2570460 Ranieri, 1991, Neonatal screening strategy for cystic fibrosis using immunoreactive trypsinogen and direct gene analysis, BMJ, 302, 1237, 10.1136/bmj.302.6787.1237 Ranieri, 1994, Neonatal screening for cystic fibrosis using immunoreactive trypsinogen and direct gene analysis: four years' experience, BMJ, 308, 1469, 10.1136/bmj.308.6942.1469 Wilcken, 2007, More evidence to favour newborn screening for cystic fibrosis, Lancet, 369, 1146, 10.1016/S0140-6736(07)60540-6 Farrell, 2001, Early diagnosis of cystic fibrosis through neonatal screening prevents severe malnutrition and improves long-term growth. Wisconsin Cystic Fibrosis Neonatal Screening Study Group, Pediatrics, 107, 1, 10.1542/peds.107.1.1 Farrell, 2003, Bronchopulmonary disease in children with cystic fibrosis after early or delayed diagnosis, Am J Respir Crit Care Med, 168, 1100, 10.1164/rccm.200303-434OC Chatfield, 1991, Neonatal screening for cystic fibrosis in Wales and the West Midlands: clinical assessment after five years of screening, Arch Dis Child, 66, 29, 10.1136/adc.66.1_Spec_No.29 Doull, 2001, Cystic fibrosis-related deaths in infancy and the effect of newborn screening, Pediatr Pulmonol, 31, 363, 10.1002/ppul.1059 Wang, 2002, The impact of early cystic fibrosis diagnosis on pulmonary function in children, J Pediatr, 141, 804, 10.1067/mpd.2002.129845 Lai, 2004, Association between initial disease presentation, lung disease outcomes, and survival in patients with cystic fibrosis, Am J Epidemiol, 159, 537, 10.1093/aje/kwh083 Grosse, 2006, Potential impact of newborn screening for cystic fibrosis on child survival: a systematic review and analysis, J Pediatr, 149, 362, 10.1016/j.jpeds.2006.04.059 Mérelle, 2001, Influence of neonatal screening and centralized treatment on long-term clinical outcome and survival of CF patients, Eur Respir J, 18, 306, 10.1183/09031936.01.00080101 Dankert-Roelse, 2005, Newborn screening for CF: published evidence from Europe, J Pediatrics, 147, S15, 10.1016/j.jpeds.2005.08.009 Waters, 1999, Clinical outcomes of newborn screening for cystic fibrosis, Arch Dis Child Fetal Neonatal Ed, 80, F1, 10.1136/fn.80.1.F1 McKay, 2005, The influence of newborn screening for cystic fibrosis on pulmonary outcomes in New South Wales, J Pediatr, 147, S47, 10.1016/j.jpeds.2005.08.013 Mastella, 2001, Neonatal screening for cystic fibrosis: long-term clinical balance, Pancreatology, 1, 531, 10.1159/000055856 Grosse, 2004, Newborn screening for cystic fibrosis: evaluation of benefits and risks and recommendations for state newborn screening programs, MMWR Recomm Rep, 53, 1 Waters, 1990, Pancreatic function in infants identified as having cystic fibrosis in a neonatal screening program, N Eng J Med, 322, 303, 10.1056/NEJM199002013220505 Cipolli, 2007, Pancreatic phenotype in cystic fibrosis patients identified by mutation screening, Arch Dis Child, 92, 842, 10.1136/adc.2006.107581 Siret, 2003, Comparing the clinical evolution of cystic fibrosis screened neonatally to that of cystic fibrosis diagnosed from clinical symptoms: a 10-year retrospective study in a French region (Brittany), Ped Pulmonol, 35, 342, 10.1002/ppul.10259 Sims, 2005, Neonatal screening for cystic fibrosis is beneficial even in the context of modern treatment, J Pediatr, 147, S42, 10.1016/j.jpeds.2005.08.002 Sims, 2007, United Kingdom Cystic Fibrosis Database Steering Committee. Cystic fibrosis diagnosed after 2 months of age leads to worse outcomes and requires more therapy, Pediatrics, 119, 19, 10.1542/peds.2006-1498 Accurso, 2005, Complications associated with symptomatic diagnosis in infants with cystic fibrosis, J Pediatr, 147, S37, 10.1016/j.jpeds.2005.08.034 Koscik, 2005, Preventing early, prolonged vitamin E deficiency: an opportunity for better cognitive outcomes via early diagnosis through neonatal screening, J Pediatr, 147, S51, 10.1016/j.jpeds.2005.08.003 Sims, 2007, Economic implications of newborn screening for cystic fibrosis: a cost of illness retrospective cohort study, Lancet, 7, 1187, 10.1016/S0140-6736(07)60565-0 Mérelle, 2003, Early versus late diagnosis: psychological impact on parents of children with cystic fibrosis, Pediatrics, 111, 346, 10.1542/peds.111.2.346 Baroni, 1997, Cystic fibrosis newborn screening: impact of early screening results on parenting stress, Pediatr Nurs, 23, 143 Gurian, 2006, Expanded newborn screening for biochemical disorders: the effect of a false-positive result, Pediatrics, 117, 1915, 10.1542/peds.2005-2294 Balfour-Lynn, 2008, Newborn screening for cystic fibrosis: evidence of benefit, Arch Dis Child, 93, 7, 10.1136/adc.2007.115832 Tluczek, 1992, Parents' knowledge of neonatal screening and response to false-positive cystic fibrosis testing, J Dev Behav Pediatr, 13, 181, 10.1097/00004703-199206000-00005 Perobelli, 1988, False positive screening for cystic fibrosis: reactions in parents and attitudes of professionals, 203 Mischler, 1998, Cystic fibrosis newborn screening: impact on reproductive behaviour and implications for genetic counselling, Pediatrics, 102, 44, 10.1542/peds.102.1.44 Castellani, 2003, Evidence for newborn screening for cystic fibrosis, Ped Respir Rev, 4, 278, 10.1016/S1526-0542(03)00085-X Farrell, 2008, Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation Consensus Report, J Pediatr, 153, S4, 10.1016/j.jpeds.2008.05.005 Castellani, 2008, Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice, J Cyst Fibrosis, 7, 179, 10.1016/j.jcf.2008.03.009 Castellani, 2001, Analysis of the entire coding region of the cystic fibrosis transmembrane regulator gene in neonatal hypertrypsinemia with normal sweat test, J Med Genet, 38, 205, 10.1136/jmg.38.3.202 Parad, 2005, Sweat testing infants detected by cystic fibrosis newborn screening, J Pediatr, 147, S69, 10.1016/j.jpeds.2005.08.015 Curnow, 2003, Genetic counselling after carrier detection by newborn screening when one parent carries DeltaF508 and the other R117H, Arch Dis Child, 88, 886, 10.1136/adc.88.10.886 Ciske, 2001, Genetic counselling and neonatal screening for cystic fibrosis: an assessment of the communication process, Pediatrics, 107, 699, 10.1542/peds.107.4.699 Mayell, 2008, A European consensus for the investigation and management of infants with an equivocal diagnosis following newborn screening for Cystic Fibrosis, J Cyst Fibrosis Kilinc, 2002, Highest heterogeneity for cystic fibrosis: 36 mutations account for 75% of all CF chromosomes in Turkish patients, Am J Med Genet, 113, 250, 10.1002/ajmg.10721 Lakeman, 2008, CFTR mutations in Turkish and North African cystic fibrosis patients in Europe: implications for screening, Genetic Testing, 12, 25, 10.1089/gte.2007.0046 Price, 2006, Newborn screening for cystic fibrosis: do we need a second IRT?, Arch Dis Child, 91, 209, 10.1136/adc.2005.085084 Munck, 2008, Implementation of the French nationwide cystic fibrosis newborn screening program, J Pediatr, 153, 228, 10.1016/j.jpeds.2008.02.028 Van den Akker-van, 2006, Cost-effectiveness of 4 neonatal screening strategies for cystic fibrosis, Pediatrics, 118, 896, 10.1542/peds.2005-2782 Heeley, 1999, An update of cystic fibrosis screening in East Anglia 1990–1997 with previous ten years included for comparison. Dépistage néonatal de la mucoviscidose Hammond, 1991, Efficacy of statewide neonatal screening for cystic fibrosis by assay of trypsinogen concentrations, N Engl J Med, 325, 769, 10.1056/NEJM199109123251104 Wilcken, 1995, Neonatal screening for cystic fibrosis: a comparison of two strategies for case detection in 1.2 million babies, J Pediatr, 127, 965, 10.1016/S0022-3476(95)70040-4 Wilcken, 1993, Newborn screening for cystic fibrosis: its evolution and a review of the current situation, Screening, 2, 43, 10.1016/0925-6164(93)90017-D Heeley, 1992, The neonatal detection of cystic fibrosis by measurement of immunoreactive trypsin in blood, Ann Clin Biochem, 29, 361, 10.1177/000456329202900401 Li, 2006, Development and characterization of dried blood spot materials for the measurement of immunoreactive trypsinogen, J Med Screen, 13, 79, 10.1258/096914106777589623 Pollitt, 2007, Population quantile–quantile plots for monitoring assay performance in newborn screening, J Inherit Metab Dis, 30, 607, 10.1007/s10545-007-0573-3 Kirby, 1981, Use of a dried blood spot in immunoreactive-trypsin assay for the detection of cystic fibrosis in infants, Clin Chem, 27, 678, 10.1093/clinchem/27.5.678 Dhondt, 1994, What do immunoreactive trypsin assays measure?, Screening, 3, 33, 10.1016/0925-6164(94)90033-7 Priest, 1991, False positive results with immunoreactive trypsinogen screening for cystic fibrosis owing to trisomy 13, J Med Genet, 28, 575, 10.1136/jmg.28.8.575-a Heeley, 1984, Trisomy 18, cystic fibrosis, and blood immunoreactive trypsin, Lancet, 1, 169, 10.1016/S0140-6736(84)90107-7 Rock, 1989, Immunoreactive trypsinogen screening for cystic fibrosis: characterisation of infants with a false positive screening test, Pediatr Pulmonol, 6, 42, 10.1002/ppul.1950060111 Ravine, 1993, Non-specific elevation of immunoreactive trypsinogen in sick infants, Eur J Pediatr, 152, 348, 10.1007/BF01956751 Wilson, 1994, Neonatal infection does not affect the immunoreactive trypsinogen screening test for cystic fibrosis, J Pediatr Gastroenterol Nutr, 19, 97, 10.1097/00005176-199407000-00016 Moya, 1998, High serum immunoreactive trypsin not caused by cystic fibrosis, Arch Dis Child Fetal Neonatal Ed, 78, F78, 10.1136/fn.78.1.F78a Cheillan, 2005, False-positive results in neonatal screening for cystic fibrosis based on a three-stage protocol (IRT/DNA/IRT): should we adjust IRT cut-off to ethnic origin?, J Inherit Metab Disease, 28, 813, 10.1007/s10545-005-0067-0 Giusti, 2008, New York State Cystic Fibrosis Newborn Screening Consortium. Elevated IRT levels in African-American infants: implications for newborn screening in an ethnically diverse population, Pediatr Pulmonol, 43, 638, 10.1002/ppul.20824 Rusakow, 1993, Immunoreactive trypsinogen levels in cystic fibrosis complicated by meconium ileus, Screening, 2, 13, 10.1016/0925-6164(93)90013-9 Slotnick, 1996, Prognostic implications of fetal echogenic bowel, Lancet, 347, 85, 10.1016/S0140-6736(96)90210-X Muller, 2002, French Collaborative Group. Predicting the risk of cystic fibrosis with abnormal ultrasound signs of fetal bowel: results of a French molecular collaborative study based on 641 prospective cases, Am J Med Genet, 110, 109, 10.1002/ajmg.10431 Southern, 2007, A survey of newborn screening for cystic fibrosis in Europe, J Cyst Fibros, 6, 57, 10.1016/j.jcf.2006.05.008 Cleghorn, 1985, Age-related alterations in immunoreactive pancreatic lipase and cationic trypsinogen in young children with cystic fibrosis, J Pediatr, 107, 377, 10.1016/S0022-3476(85)80510-2 Sontag, 2006, Genetic and physiological correlates of longitudinal immunoreactive trypsinogen decline in infants with cystic fibrosis identified through newborn screening, J Pediatr, 149, 650, 10.1016/j.jpeds.2006.07.026 Durie, 1986, Age-related alterations in immunoreactive pancreatic cationic trypsinogen sera from cystic fibrosis patients with and without pancreatic sufficiency, Pediatr Res, 20, 209, 10.1203/00006450-198603000-00002 Rock, 1990, Newborn screening for cystic fibrosis is complicated by age-related decline in immunoreactive trypsinogen levels, Pediatrics, 85, 1001, 10.1542/peds.85.6.1001 Boyne, 2000, Many delF508 heterozygote neonates with transient hypertrypsinaemia have a second, mild CFTR mutation, J Med Genet, 37, 543, 10.1136/jmg.37.7.543 Dequeker, 2008, Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders — updated European recommendations, Eur J Hum Genet Kiesewetter, 1993, A mutation in CFTR produces different phenotypes depending on chromosomal background, Nature Genet, 5, 274, 10.1038/ng1193-274 Chu, 1993, Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA, Nat Genet, 3, 151, 10.1038/ng0293-151 Cuppens, 1998, Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation, J Clin Investig, 101, 487, 10.1172/JCI639 Niksic, 1999, Functional analysis of cis-acting elements regulating the alternative splicing of human CFTR exon 9, Hum Mol Genet, 8, 2339, 10.1093/hmg/8.13.2339 Scotet, 2006, Immunoreactive trypsin/DNA newborn screening for cystic fibrosis: should the R117H variant be included in CFTR mutation panels?, Pediatrics, 118, 1523, 10.1542/peds.2005-3161 Peckham, 2006, Delayed diagnosis of cystic fibrosis associated with R117H on a background of 7T polythymidine tract at intron 8, J Cyst Fibros, 5, 63, 10.1016/j.jcf.2005.09.009 Dhondt, 2005, Implementation of informed consent for a cystic fibrosis newborn screening program in France: low refusal rates for optional testing, J Pediatr, 147, S106, 10.1016/j.jpeds.2005.08.008 Macrae, 1990, Position paper: screening for high-risk pregnacies with maternal serum alpha-fetoprotein (MSAFP), Clin Biochem, 23, 469, 10.1016/0009-9120(90)80035-H De Boeck, 2006, Cystic fibrosis: terminology and diagnostic algorithms, Thorax, 61, 627, 10.1136/thx.2005.043539 Tluczek, 2006, Newborn screening for cystic fibrosis: parents' preferences regarding counseling at the time of infants' sweat test, J Genet Couns, 15, 277, 10.1007/s10897-006-9031-x Green, 2007, Guidelines Development Group. Guidelines for the performance of the sweat test for the diagnosis of cystic fibrosis, Ann Clin Biochem, 44, 25, 10.1258/000456307779596011 LeGrys, 2007, Diagnostic sweat testing: the Cystic Fibrosis Foundation guidelines, Journal of Pediatrics, 151, 85, 10.1016/j.jpeds.2007.03.002 Murphy, 1998, Consensus development methods, and their use in clinical guideline development, Health Technol Assess (Winchester, England), 2, 1 Groman, 2004, Variation in a repeat sequence determines whether a common variant of the cystic fibrosis transmembrane conductance regulator gene is pathogenic or benign, Am J Hum Genet, 74, 176, 10.1086/381001 Rosenfeld, 2007, An overview of endpoints for Cystic Fibrosis clinical trials. One size does not fit all, Proc Am Thorac Soc, 4, 299, 10.1513/pats.200611-178HT Koscik, 2004, Cognitive function of children with cystic fibrosis: deleterious effect of early malnutrition, Pediatrics, 113, 1549, 10.1542/peds.113.6.1549 Khan, 1995, Early pulmonary inflammation in infants with cystic fibrosis, Am J Respir Crit Care Med, 151, 1075 Rosenfeld, 1999, Diagnostic accuracy of oropharyngeal cultures in infants and young children with cystic fibrosis, Pediatr Pulmonol, 28, 321, 10.1002/(SICI)1099-0496(199911)28:5<321::AID-PPUL3>3.0.CO;2-V Jung, 2002, Sequential genotyping of Pseudomonas aeruginosa from upper and lower airways of cystic fibrosis patients, Eur Respir J, 20, 1457, 10.1183/09031936.02.00268002 Weaver, 1994, Prognosis in cystic fibrosis treated with continuous flucloxacillin from the neonatal period, Arch Dis Child, 70, 84, 10.1136/adc.70.2.84 Stutman, 2002, Antibiotic prophylaxis in infants and young children with cystic fibrosis: a randomized controlled trial, J Pediatr, 140, 299, 10.1067/mpd.2002.121930 Smyth, 2003, Prophylactic antibiotics for cystic fibrosis, Cochrane Database Syst Rev, 10.1002/14651858.CD001912 Venkatesh, 2006, Prevention and treatment of respiratory syncitial virus infection in infants: an update, Expert Rev Vaccine, 5, 261, 10.1586/14760584.5.2.261 Malfroot, 2005, Immunisation in the current management of cystic fibrosis patients, J Cyst Fibros, 4, 77, 10.1016/j.jcf.2004.10.003 Prasad, 2008, Finding consensus on the physiotherapy management of asymptomatic infants with cystic fibrosis, Pediatr Pulmonol, 43, 236, 10.1002/ppul.20741 Munck, 2007, Survey of the information provided for parents about newborn screening for CF in European programmes, J Cyst Fibros, 6, S87, 10.1016/S1569-1993(07)60327-0 Parsons, 2003, Psychosocial issues in newborn screening for cystic fibrosis, Pediatr Resp Rev, 4, 285, 10.1016/S1526-0542(03)00086-1 Duff, 2008, Psychosocial aspects of newborn screening programmes for cystic fibrosis, Child Health Care, 37, 21, 10.1080/02739610701766867 Makoul, 2001, Essential elements of communication in medical encounters: the Kalamazoo consensus statement, Acad Med, 76, 390, 10.1097/00001888-200104000-00021 Davis, 2006, Recommendations for effective newborn screening communication: results of focus groups with parents, providers, and experts, Pediatrics, 117, S326, 10.1542/peds.2005-2633M Campbell, 2004, Incorporating newborn screening into prenatal care, Am J Obstet Gynecol, 190, 876, 10.1016/j.ajog.2003.12.026 Clayton, 2005, Talking with parents before newborn screening, J Pediatr, 147, S26, 10.1016/j.jpeds.2005.08.001 Tluczek, 2005, Psychosocial risk associated with newborn screening for cystic fibrosis: parents' experience while awaiting the sweat-test appointment, Pediatrics, 115, 1692, 10.1542/peds.2004-0275 Andrews, 1994, Assessing genetic risks: implications for health and social policy Farrell, 2001, Genetic counselling and other risk communication services by newborn screening programmes, Arch Ped Adol Med, 155, 120, 10.1001/archpedi.155.2.120 Diem, 2004, Newborn screening should it be part of prenatal care?, Am J Obstet Gynecol, 190, 874, 10.1016/j.ajog.2003.12.025 Boland, 1990, Effects of newborn screening of cystic fibrosis on reported maternal behaviour, Arch Dis Child, 65, 1240, 10.1136/adc.65.11.1240 Kharrazi, 2005, Delayed diagnosis of cystic fibrosis and the family perspective, J Pediatr, 147, S21, 10.1016/j.jpeds.2005.08.011 Moran, 2007, Newborn screening for CF in a regional paediatric centre: the psychosocial effects of false-positive IRT results on parents, J Cyst Fibros, 6, 250, 10.1016/j.jcf.2006.09.001 Helton, 2003, Parental attitudes towards newborn screening on cystic fibrosis, Ped Pulmonol, 7, 23 Castellani, 2005, Cystic fibrosis carriers have higher neonatal immunoreactive trypsinogen values than non-carriers, Am J Med Genet, 135, 142, 10.1002/ajmg.a.30470 Farrell, 2003, Newborn screening for cystic fibrosis: ensuring more good than harm, J Pediatr, 143, 707, 10.1016/j.jpeds.2003.09.022 Lewis, 2006, Parental attitudes to the identification of their infants as carriers of cystic fibrosis by newborn screening, J Paediatr Child Heath, 42, 533, 10.1111/j.1440-1754.2006.00917.x Evers-Kiebooms, 1994, A stigmatizing effect of the carrier status for cystic fibrosis?, Clin Genet, 46, 336, 10.1111/j.1399-0004.1994.tb04174.x Fanos, 1995, Barriers to carrier testing adult cystic fibrosis sibs: the importance of not knowing, Am J Med Genet, 59, 85, 10.1002/ajmg.1320590117 Williams, 1997, Benefits and burdens of genetic carrier identification, West J Nurs Res, 19, 71, 10.1177/019394599701900105