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dc.contributor.authorWheeler, Patricia G.
dc.contributor.authorSmith, Rosemarie
dc.contributor.authorDorkin, Henry L.
dc.contributor.authorParad, Richard B.
dc.contributor.authorComeau, Anne Marie
dc.contributor.authorBianchi, Diana W.
dc.date2022-08-11T08:10:10.000
dc.date.accessioned2022-08-23T16:58:03Z
dc.date.available2022-08-23T16:58:03Z
dc.date.issued2001-11-21
dc.date.submitted2012-04-09
dc.identifier.citationGenet Med. 2001 Nov-Dec;3(6):411-5. DOi 10.1097/00125817-200111000-00006
dc.identifier.issn1098-3600 (Linking)
dc.identifier.doi10.1097/00125817-200111000-00006
dc.identifier.pmid11715005
dc.identifier.urihttp://hdl.handle.net/20.500.14038/43285
dc.description.abstractPURPOSE: To study the follow-up of genetic counseling performed in families with a newborn detected with one cystic fibrosis (CF) mutation in a statewide newborn screening pilot program. METHODS: Newborns in Massachusetts with an elevated trypsinogen level on newborn screen who are found to have one mutation for CF on a selected mutation assay undergo sweat testing for CF, and their families receive genetic counseling. The genetic counseling focuses on carrier risk for the parents of the newborn and offers carrier testing. We studied the yield of genetic counseling and the resulting genetic testing performed on the families of infants found to be CF carriers who underwent sweat testing in a single institution. RESULTS: Of 102 newborns evaluated with a single CF mutation, 2 (twins) had sweat test results consistent with CF. A total of 101 families were counseled, and 95 were offered DNA-based CF carrier testing. Eighty-two percent of all parents chose to have CF carrier testing, and in five couples, both members were carriers. One of these couples (whose newborn was only a carrier) had an older child who was unexpectedly found to have CF. CONCLUSIONS: Sweat testing of newborns at increased risk for CF in conjunction with genetic counseling for their parents allows identification of infants with CF, finds couples at high risk for having a child with CF, identifies previously undiagnosed siblings with CF, and allows for potential identification of CF carriers in the extended family.
dc.language.isoen_US
dc.relation<a href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&list_uids=11715005&dopt=Abstract">Link to Article in PubMed</a>
dc.relation.urlhttp://dx.doi.org/10.1097/00125817-200111000-00006
dc.subjectChlorides
dc.subjectCystic Fibrosis
dc.subjectElectrolytes
dc.subjectGenetic Counseling
dc.subjectGenetic Testing
dc.subjectGenotype
dc.subjectHeterozygote
dc.subjectHeterozygote Detection
dc.subjectHumans
dc.subjectInfant, Newborn
dc.subjectMassachusetts
dc.subjectMutation
dc.subjectNeonatal Screening
dc.subjectPilot Projects
dc.subjectReferral and Consultation
dc.subjectRisk Factors
dc.subjectSweating
dc.subjectTime Factors
dc.subjectTrypsinogen
dc.subjectGenetics and Genomics
dc.subjectMedical Genetics
dc.subjectPediatrics
dc.titleGenetic counseling after implementation of statewide cystic fibrosis newborn screening: Two years' experience in one medical center
dc.typeJournal Article
dc.source.journaltitleGenetics in medicine : official journal of the American College of Medical Genetics
dc.source.volume3
dc.source.issue6
dc.identifier.legacycoverpagehttps://escholarship.umassmed.edu/peds_genetics/3
dc.identifier.contextkey2742422
html.description.abstract<p>PURPOSE: To study the follow-up of genetic counseling performed in families with a newborn detected with one cystic fibrosis (CF) mutation in a statewide newborn screening pilot program.</p> <p>METHODS: Newborns in Massachusetts with an elevated trypsinogen level on newborn screen who are found to have one mutation for CF on a selected mutation assay undergo sweat testing for CF, and their families receive genetic counseling. The genetic counseling focuses on carrier risk for the parents of the newborn and offers carrier testing. We studied the yield of genetic counseling and the resulting genetic testing performed on the families of infants found to be CF carriers who underwent sweat testing in a single institution.</p> <p>RESULTS: Of 102 newborns evaluated with a single CF mutation, 2 (twins) had sweat test results consistent with CF. A total of 101 families were counseled, and 95 were offered DNA-based CF carrier testing. Eighty-two percent of all parents chose to have CF carrier testing, and in five couples, both members were carriers. One of these couples (whose newborn was only a carrier) had an older child who was unexpectedly found to have CF.</p> <p>CONCLUSIONS: Sweat testing of newborns at increased risk for CF in conjunction with genetic counseling for their parents allows identification of infants with CF, finds couples at high risk for having a child with CF, identifies previously undiagnosed siblings with CF, and allows for potential identification of CF carriers in the extended family.</p>
dc.identifier.submissionpathpeds_genetics/3
dc.contributor.departmentNew England Newborn Screening Program
dc.contributor.departmentDepartment of Pediatrics
dc.source.pages411-5


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