| Community-wide screening for cystic fibrosis carriers could replace newborn screening for the diagnosis of cystic fibrosis. | |
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MedLine Citation:
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PMID: 17924936 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Most babies with cystic fibrosis (CF) are born to parents who did not know they were carriers until their baby was diagnosed with CF, usually by newborn screening. It is only after the birth of their first child with CF that couples are offered genetic counselling and reproductive choices. Most use this information for prenatal testing of subsequent pregnancies. With the high uptake of first trimester screening for Down syndrome (80% in Victoria) most couples have had screening during the CF affected pregnancy. Yet screening for CF carrier status is available, costs are similar to that for Down syndrome screening and CF carrier screening only ever needs to be done once. Waiting for couples to have a baby with CF before they are identified as carriers denies them choice. A national policy on CF carrier screening in Australia, and determination to equitably fund such a programme, is required. |
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Authors:
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John Massie; Robin Forbes; Desiree Dusart; Agnes Bankier; Martin B Delatycki |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Journal of paediatrics and child health Volume: 43 ISSN: 1034-4810 ISO Abbreviation: J Paediatr Child Health Publication Date: 2007 Nov |
Date Detail:
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Created Date: 2007-10-10 Completed Date: 2008-02-26 Revised Date: 2009-11-19 |
Medline Journal Info:
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Nlm Unique ID: 9005421 Medline TA: J Paediatr Child Health Country: Australia |
Other Details:
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Languages: eng Pagination: 721-3 Citation Subset: IM |
Affiliation:
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Department of Respiratory Medicine, Royal Children's Hospital, Parkville, Victoria, Australia. john.massie@rch.org.au |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abortion, Induced
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psychology Australia Choice Behavior Chorionic Villi Sampling Cost-Benefit Analysis Cystic Fibrosis / diagnosis, genetics*, prevention & control Cystic Fibrosis Transmembrane Conductance Regulator / isolation & purification Female Genetic Counseling Genetic Testing* Health Policy Heterozygote Detection / methods* Humans Infant, Newborn Mutagenicity Tests Neonatal Screening Preconception Care* Pregnancy Victoria |
| Chemical | |
Reg. No./Substance:
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126880-72-6/Cystic Fibrosis Transmembrane Conductance Regulator |
| Comments/Corrections | |
Comment In:
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J Paediatr Child Health. 2008 Apr;44(4):232-3; author reply 233
[PMID:
18377372
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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