| Carrier screening for cystic fibrosis: implications for obstetric and gynecologic practice. | |
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MedLine Citation:
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PMID: 2014829 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Cystic fibrosis, which is one of the most common autosomal recessive disorders, has a carrier frequency of approximately 1 in 25 among whites in the United States. In this population approximately 75% of the mutations in patients with cystic fibrosis correspond to a 3 base pair deletion that results in the loss of a phenylalanine residue at amino acid position 508 (designated delta F508) from the coding region of the cystic fibrosis gene. Currently, only about half of the couples at risk can be identified as cystic fibrosis carriers. We support conclusions of the National Institutes of Health Workshop on Population Screening for the Cystic Fibrosis Gene, which state that carrier testing should be offered to all individuals or couples with a family history of cystic fibrosis. Good science and solid educational and counseling strategies must be in place before screening for cystic fibrosis is routinely offered to those with a negative family history. Pilot programs that investigate research questions in the delivery of population screening for cystic fibrosis carriers are urgently needed. |
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Authors:
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S Elias; G J Annas; J L Simpson |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, U.S. Gov't, P.H.S. |
Journal Detail:
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Title: American journal of obstetrics and gynecology Volume: 164 ISSN: 0002-9378 ISO Abbreviation: Am. J. Obstet. Gynecol. Publication Date: 1991 Apr |
Date Detail:
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Created Date: 1991-05-16 Completed Date: 1991-05-16 Revised Date: 2007-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0370476 Medline TA: Am J Obstet Gynecol Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 1077-83 Citation Subset: AIM; E; IM |
Affiliation:
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Department of Obstetrics and Gynecology, University of Tennessee, Memphis 38163. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Advisory Committees Confidentiality Counseling Cystic Fibrosis / genetics* Female Gynecology / methods* Heterozygote Detection* Humans Obstetrics / methods* Patient Education as Topic Public Policy Voluntary Programs |
| Grant Support | |
ID/Acronym/Agency:
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AI23479/AI/NIAID NIH HHS; N01-HD-8-2904/HD/NICHD NIH HHS |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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