Document Detail


Community-wide screening for cystic fibrosis carriers could replace newborn screening for the diagnosis of cystic fibrosis.
MedLine Citation:
PMID:  17924936     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
John Massie; Robin Forbes; Desiree Dusart; Agnes Bankier; Martin B Delatycki
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of paediatrics and child health     Volume:  43     ISSN:  1034-4810     ISO Abbreviation:  J Paediatr Child Health     Publication Date:  2007 Nov 
Date Detail:
Created Date:  2007-10-10     Completed Date:  2008-02-26     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  9005421     Medline TA:  J Paediatr Child Health     Country:  Australia    
Other Details:
Languages:  eng     Pagination:  721-3     Citation Subset:  IM    
Affiliation:
Department of Respiratory Medicine, Royal Children's Hospital, Parkville, Victoria, Australia. john.massie@rch.org.au
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MeSH Terms
Descriptor/Qualifier:
Abortion, Induced / 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:
126880-72-6/Cystic Fibrosis Transmembrane Conductance Regulator
Comments/Corrections
Comment In:
J Paediatr Child Health. 2008 Apr;44(4):232-3; author reply 233   [PMID:  18377372 ]

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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