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Genetic counseling after implementation of statewide cystic fibrosis newborn screening: Two years' experience in one medical center
Authors
Wheeler, Patricia G.Smith, Rosemarie
Dorkin, Henry L.
Parad, Richard B.
Comeau, Anne Marie
Bianchi, Diana W.
Document Type
Journal ArticlePublication Date
2001-11-21Keywords
ChloridesCystic Fibrosis
Electrolytes
Genetic Counseling
Genetic Testing
Genotype
Heterozygote
Heterozygote Detection
Humans
Infant, Newborn
Massachusetts
Mutation
Neonatal Screening
Pilot Projects
Referral and Consultation
Risk Factors
Sweating
Time Factors
Trypsinogen
Genetics and Genomics
Medical Genetics
Pediatrics
Metadata
Show full item recordAbstract
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. 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.Source
Genet Med. 2001 Nov-Dec;3(6):411-5. DOi 10.1097/00125817-200111000-00006DOI
10.1097/00125817-200111000-00006Permanent Link to this Item
http://hdl.handle.net/20.500.14038/43285PubMed ID
11715005Related Resources
Link to Article in PubMedae974a485f413a2113503eed53cd6c53
10.1097/00125817-200111000-00006
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