{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,28]],"date-time":"2026-03-28T03:03:43Z","timestamp":1774667023243,"version":"3.50.1"},"reference-count":19,"publisher":"BMJ","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1995,7]]},"abstract":"<jats:p>Newborn screening for cystic fibrosis (CF) by examining the levels of immunoreactive trypsinogen was introduced in Victoria in 1989. This was modified by the addition of testing for the common CF gene mutation, delta F508, in 1990. Problems with the first newborn screening protocol were overcome with the addition of the DNA test as there was no need to contact the majority of families, there was a reduced number of sweat tests, and less anxiety was experienced by parents. The mode of diagnosis changed from failure to thrive, steatorrhoea, rectal prolapse, and family history to diagnosis through newborn screening. Newborn screening dramatically reduced the time of diagnosis of CF to approximately six weeks or less in the majority of cases. Since the introduction of newborn screening, the uptake of prenatal diagnosis in CF families has increased two and a quarter fold.<\/jats:p>","DOI":"10.1136\/jmg.32.7.537","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"537-542","source":"Crossref","is-referenced-by-count":23,"title":["The impact of newborn screening on cystic fibrosis testing in Victoria, Australia."],"prefix":"10.1136","volume":"32","author":[{"given":"M E","family":"Balnaves","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Bonacquisto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I","family":"Francis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Glazner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Forrest","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1995,7,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1016\/0925-6164(92)90025-Z","article-title":"The origin ofnewborn screening","volume":"1","author":"Guthrie, R.","year":"1992","unstructured":"Guthrie R. The origin ofnewborn screening. Screening 1992; 1:5-15.","journal-title":"Screening"},{"key":"ref_2","first-page":"821","article-title":"Newborn screening in Australia and New Zealand 1984-1990","volume":"155","author":"Francis, I.","year":"1991","unstructured":"Francis I. Newborn screening in Australia and New Zealand 1984-1990. Med JAust 1991;155:821-3.","journal-title":"Med JAust"},{"key":"ref_3","first-page":"472","article-title":"Dried-blood spot screening for cystic fibrosis in the newborn","volume":"i:","author":"Crossley, J.; Elliot, R.; Smith, P.","year":"1979","unstructured":"Crossley J, Elliot R, Smith P. Dried-blood spot screening for cystic fibrosis in the newborn. Lancet 1979;i:472-4.","journal-title":"Lancet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1136\/adc.58.11.863","article-title":"Diagnostic delay in cystic fibrosis: lessons from newborn screening","volume":"58","author":"Wilcken, B.; Towns, S.J.; Mellis, C.M.","year":"1983","unstructured":"Wilcken B, Towns SJ, Mellis CM. Diagnostic delay in cystic fibrosis: lessons from newborn screening. Arch Dis Child 1983;58:863-6.","journal-title":"Arch Dis Child"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1542\/peds.23.3.545","article-title":"A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis","volume":"23","author":"Gibson, L.E.; Cooke, R.E.","year":"1959","unstructured":"Gibson LE, Cooke RE. A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis. Pediatrics 1959;23:545-9.","journal-title":"Pediatrics"},{"key":"ref_6","first-page":"348","article-title":"Non-specific elevation ofimmunoreactive trypsinogen in sick infants","volume":"152","author":"Ravine, D.; Francis, R.I.; Danks, D.M.","year":"1993","unstructured":"Ravine D, Francis RI, Danks DM. Non-specific elevation ofimmunoreactive trypsinogen in sick infants. EurJPediatr 1993;152:348-9.","journal-title":"EurJPediatr"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1126\/science.2570460","article-title":"Identification of the cystic fibrosis gene: genetic analysis","volume":"245","author":"Kerem, B.-S.; Rommens, J.M.; Buchanan, J.A.","year":"1989","unstructured":"Kerem B-S, Rommens JM, Buchanan JA, et al. Identification of the cystic fibrosis gene: genetic analysis. Science 1989; 245:1073-80.","journal-title":"Science"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1016\/0140-6736(90)93446-V","article-title":"Polymerase chain reaction amplification from dried blood spots on Guthrie cards","volume":"336","author":"El, Schwartz; SE, Khalchitsky; RC, Eisensmith; SLC, Woo","year":"1990","unstructured":"Schwartz El, Khalchitsky SE, Eisensmith RC, Woo SLC. Polymerase chain reaction amplification from dried blood spots on Guthrie cards. Lancet 1990;336:639-40.","journal-title":"Lancet"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1451","DOI":"10.1016\/0140-6736(90)93161-H","article-title":"Gene amplification directly from Guthrie blood spots","volume":"336","author":"Nelson, P.V.; Carey, W.F.; Morris, C.P.","year":"1990","unstructured":"Nelson PV, Carey WF, Morris CP. Gene amplification directly from Guthrie blood spots. Lancet 1990;336:1451-2.","journal-title":"Lancet"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/0925-6164(93)90013-9","article-title":"Immunoreactive trypsinogen levels in infants with cystic fibrosis complicated by meconium ileus","volume":"2","author":"Rusakow, L.S.; Abman, S.H.; Sokol, R.J.","year":"1993","unstructured":"Rusakow LS, Abman SH, Sokol RJ, et al. Immunoreactive trypsinogen levels in infants with cystic fibrosis complicated by meconium ileus. Screening 1993;2:13-17.","journal-title":"Screening"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"1237","DOI":"10.1136\/bmj.302.6787.1237","article-title":"Neonatal screening strategy for cystic fibrosis using immunoreactive trypsinogen and direct gene analysis","volume":"302","author":"Ranieri, E.; Ryall, R.G.; Morris, C.P.","year":"1991","unstructured":"Ranieri E, Ryall RG, Morris CP, et al. Neonatal screening strategy for cystic fibrosis using immunoreactive trypsinogen and direct gene analysis. BMJ 1991;302:1237-40.","journal-title":"BMJ"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/S0065-3101(24)00279-2","article-title":"Newborn screening for cystic fibrosis. The Cystic Fibrosis Neonatal Screening Study Group","volume":"39","author":"Farrell, P.M.; Mischler, E.H.","year":"1992","unstructured":"Farrell PM, Mischler EH. Newborn screening for cystic fibrosis. The Cystic Fibrosis Neonatal Screening Study Group. Adv Pediatr 1992;39:35-70.","journal-title":"Adv Pediatr"},{"key":"ref_13","first-page":"493","article-title":"Why we should not screen our newborns for cystic fibrosis","volume":"36","author":"Gitzelmann, R.","year":"1981","unstructured":"Gitzelmann R. Why we should not screen our newborns for cystic fibrosis. Helv Paediatr Acta 1981;36:493-4.","journal-title":"Helv Paediatr Acta"},{"key":"ref_14","first-page":"181","article-title":"Parents' knowledge of neonatal screening and response to false-positive cystic fibrosis testing","volume":"13","author":"Tluczek, A.; Mischler, E.H.; Farrell, P.M.","year":"1992","unstructured":"Tluczek A, Mischler EH, Farrell PM, et al. Parents' knowledge of neonatal screening and response to false-positive cystic fibrosis testing. Dev Behav Paediatr 1992;13:181-6.","journal-title":"Dev Behav Paediatr"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1002\/ppul.1950110707","article-title":"Psychological impact of false positive results when screening for cystic fibrosis","volume":"7","author":"Tluczek, A.; Mischler, E.H.; Bowers, B.","year":"1991","unstructured":"Tluczek A, Mischler EH, Bowers B, et al. Psychological impact of false positive results when screening for cystic fibrosis. Paediatr Pulmonol Suppl 1991;7:29-37.","journal-title":"Paediatr Pulmonol Suppl"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1136\/adc.66.1_Spec_No.29","article-title":"Neonatal screening for cystic fibrosis in Wales and the West Midlands: clinical assessment after five years of screening","volume":"66","author":"Chatfield, S.; Owen, G.; Ryley, H.C.","year":"1991","unstructured":"Chatfield S, Owen G, Ryley HC, et al. Neonatal screening for cystic fibrosis in Wales and the West Midlands: clinical assessment after five years of screening. Arch Dis Child 1991;66:29-33.","journal-title":"Arch Dis Child"},{"key":"ref_17","first-page":"23","article-title":"Parental attitudes toward newborn screening for cystic fibrosis","volume":"7","author":"Helton, J.L.; Harmon, R.J.; Robinson, N.; Accurso, F.J.","year":"1991","unstructured":"Helton JL, Harmon RJ, Robinson N, Accurso FJ. Parental attitudes toward newborn screening for cystic fibrosis. Paediatr Pulmonol 1991;S7:23-8.","journal-title":"Paediatr Pulmonol"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"973","DOI":"10.1001\/archpedi.1977.02120220039005","article-title":"The effect of early diagnosis and treatment of cystic fibrosis; a seven year study of 16 sibling pairs","volume":"131","author":"Orenstein, D.M.; Boat, T.F.; Stem, R.C.","year":"1977","unstructured":"Orenstein DM, Boat TF, Stem RC, et al. The effect of early diagnosis and treatment of cystic fibrosis; a seven year study of 16 sibling pairs. Am J Dis Child 1977;131:973-5.","journal-title":"Am J Dis Child"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1136\/adc.68.4.464","article-title":"Cystic fibrosis identified by neonatal screening: incidence, genotype, and early natural history","volume":"68","author":"Green, M.R.; Weaver, L.T.; Heeley, A.F.","year":"1993","unstructured":"Green MR, Weaver LT, Heeley AF, et al. Cystic fibrosis identified by neonatal screening: incidence, genotype, and early natural history. Arch Dis Child 1993;68:464-7.","journal-title":"Arch Dis Child"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.32.7.537","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T17:38:53Z","timestamp":1760722733000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.32.7.537"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,7]]},"references-count":19,"journal-issue":{"issue":"7","published-online":{"date-parts":[[1995,7,1]]},"published-print":{"date-parts":[[1995,7]]}},"alternative-id":["10.1136\/jmg.32.7.537"],"URL":"https:\/\/doi.org\/10.1136\/jmg.32.7.537","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,7]]}}}