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    
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.
John Massie; Robin Forbes; Desiree Dusart; Agnes Bankier; Martin B Delatycki
Related Documents :
10564686 - Reduction of false negative results in screening of newborns for homocystinuria.
10079786 - The case for early identification of hearing loss in children. auditory system developm...
14605946 - Finger drawing by infant chimpanzees ( pan troglodytes).
20848586 - Variation in immunoreactive trypsinogen concentrations among michigan newborns and impl...
3481276 - An investigation of the features of the pre-term infant palate and the effect of prolon...
3946356 - Natal teeth.
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    
Department of Respiratory Medicine, Royal Children's Hospital, Parkville, Victoria, Australia.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Abortion, Induced / psychology
Choice Behavior
Chorionic Villi Sampling
Cost-Benefit Analysis
Cystic Fibrosis / diagnosis,  genetics*,  prevention & control
Cystic Fibrosis Transmembrane Conductance Regulator / isolation & purification
Genetic Counseling
Genetic Testing*
Health Policy
Heterozygote Detection / methods*
Infant, Newborn
Mutagenicity Tests
Neonatal Screening
Preconception Care*
Reg. No./Substance:
126880-72-6/Cystic Fibrosis Transmembrane Conductance Regulator
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

Previous Document:  Maize streak virus-resistant transgenic maize: a first for Africa.
Next Document:  Impacts of national surveillance for uncommon conditions in childhood.