{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T02:54:44Z","timestamp":1761101684537,"version":"3.40.5"},"reference-count":14,"publisher":"American Academy of Pediatrics (AAP)","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[1998,5,1]]},"abstract":"<jats:p>Objectives.\u2003To assess the application of DNA-based cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation analysis as a primary cystic fibrosis (CF) diagnostic test in preterm and term newborns and infants for whom the quantitative pilocarpine iontophoresis test (QPIT) cannot be used.<\/jats:p>\n               <jats:p>Design.\u2003Retrospective survey.<\/jats:p>\n               <jats:p>Setting.\u2003DNA Diagnostic Laboratory, Children's Hospital, Boston, Massachusetts. Buccal cell DNA samples were received from inpatients, outpatients, and three neonatal intensive care units.<\/jats:p>\n               <jats:p>Outcome Measure.\u2003Detection of at least 1 of 12 CFTR mutations.<\/jats:p>\n               <jats:p>Patients.\u2003Between November 1, 1992, and April 30, 1994, 28 newborns and infants under 12 months of age at risk for CF had CFTR DNA mutation analysis performed because a sweat chloride (SC) value could not be obtained. QPIT was either not performed (infant weight &amp;lt;2 kg, QPIT not available at site of hospitalization, or infant not accessible to QPIT laboratory) or was inconclusive (sweat volume &amp;lt;75 mg or indeterminate SC [\u226540, &amp;lt;60 mEq\/L]). The postnatal age at time of testing ranged from 1 day to 11 months, and gestational age at birth from 25 to 40 weeks.<\/jats:p>\n               <jats:p>Results.\u2003Six (21%) of 28 infants with unobtainable or indeterminate QPIT had 1 or 2 CFTR mutations detected. Immediate CF diagnosis by direct detection of 2 CFTR mutations was made in 5 of these 6 patients. Definitive CF diagnosis in the infant with 1 CFTR mutation was delayed until an elevation in SC could be documented. The patients with no CFTR mutations detected had a low likelihood of CF.<\/jats:p>\n               <jats:p>Conclusions.\u2003For infants in whom CF is suspected but QPIT cannot be obtained, buccal cell DNA-based CFTR mutation analysis can be used as a rapid, noninvasive primary diagnostic test. This simple mode of DNA collection may aid in the diagnosis of other inherited disorders in newborns.<\/jats:p>","DOI":"10.1542\/peds.101.5.851","type":"journal-article","created":{"date-parts":[[2004,8,13]],"date-time":"2004-08-13T23:44:32Z","timestamp":1092440672000},"page":"851-855","source":"Crossref","is-referenced-by-count":12,"title":["Buccal Cell DNA Mutation Analysis for Diagnosis of Cystic Fibrosis in Newborns and Infants Inaccessible to Sweat Chloride Measurement"],"prefix":"10.1542","volume":"101","author":[{"given":"Richard B.","family":"Parad","sequence":"first","affiliation":[{"name":"1From the Divisions of Newborn Medicine (Joint Program in Neonatology), Respiratory Diseases and Genetics, Children's Hospital, Harvard Medical School, Boston, Massachusetts."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"417","published-online":{"date-parts":[[1998,5,1]]},"reference":[{"key":"2021121007114898700_B1"},{"key":"2021121007114898700_B2","doi-asserted-by":"crossref","first-page":"614","DOI":"10.1016\/S0022-3476(82)80768-3","article-title":"Sweating in preterm babies.","volume":"100","author":"Harpin","year":"1982","journal-title":"J Pediatr"},{"key":"2021121007114898700_B3","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1136\/adc.48.4.316","article-title":"Sweat tests in the newborn period.","volume":"48","author":"Hardy","year":"1973","journal-title":"Arch Dis Child"},{"key":"2021121007114898700_B4","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","year":"1989","journal-title":"Science"},{"key":"2021121007114898700_B5","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1002\/humu.1380040302","article-title":"Population variation of common cystic fibrosis mutations.","volume":"4","author":"The Cystic Fibrosis Genetic Analysis Consortium","year":"1994","journal-title":"Hum Mut"},{"key":"2021121007114898700_B6","first-page":"121","article-title":"A cost analysis of blood-spot screening newborns for cystic fibrosis.","volume":"15","author":"Dauphinais","year":"1992","journal-title":"J Clin Immunoassay"},{"key":"2021121007114898700_B7","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1093\/hmg\/2.2.159","article-title":"Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes\/swabs.","volume":"2","author":"Richards","year":"1993","journal-title":"Hum Mol Genet"},{"key":"2021121007114898700_B8","first-page":"251","article-title":"Development, multiplexing, and application of ARMS tests for common mutations in the CFTR gene.","volume":"51","author":"Ferrie","year":"1992","journal-title":"Am J Hum Genet"},{"key":"2021121007114898700_B9","doi-asserted-by":"crossref","first-page":"974","DOI":"10.1056\/NEJM199410133311503","article-title":"A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations.","volume":"331","author":"Highsmith","year":"1994","journal-title":"N Engl J Med"},{"key":"2021121007114898700_B10","doi-asserted-by":"crossref","first-page":"600","DOI":"10.1111\/j.1749-6632.1962.tb30495.x","article-title":"The sweat test in cystic fibrosis.","volume":"93","author":"Shwachman","year":"1962","journal-title":"Ann N Y Acad Sci"},{"key":"2021121007114898700_B11","doi-asserted-by":"crossref","first-page":"1475","DOI":"10.1056\/NEJM199506013322204","article-title":"Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.","volume":"332","author":"Chillon","year":"1995","journal-title":"N Engl J Med"},{"key":"2021121007114898700_B12","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1016\/S0022-3468(82)80093-6","article-title":"The spectrum of meconium disease in infancy.","volume":"17","author":"Olsen","year":"1982","journal-title":"J Pediatr Surg"},{"key":"2021121007114898700_B13","first-page":"72","article-title":"TS. 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