Document Detail

Cystic fibrosis: selecting the prenatal screening strategy of choice.
MedLine Citation:
PMID:  12813761     Owner:  NLM     Status:  MEDLINE    
Cystic fibrosis is a serious disorder. Research into the treatment of affected individuals is in progress, but a cure is not expected in the near future. In this review, we demonstrate that prenatal screening for cystic fibrosis meets the requirements for a worthwhile screening programme. We explain the reasons that have led us to conclude that one approach ('couple screening') is the method of choice. The couple-based approach calls for reporting results to the couple as a unit. Only if both parents are found to be carriers is the result designated screen-positive and an amniocentesis or chorionic villus sampling offered. This offers a substantial reduction in the proportion of women with unaffected pregnancies with positive results (the false-positive rate) compared with other methods without reducing the detection of affected pregnancies. It also avoids creating a screen-positive group for which no definitive diagnosis is available. This is a problem with other screening methods. The couple method can achieve a 72% detection rate for a 0.1% false-positive rate. The screening method is simple, non-invasive, reliable, safe and reasonably cost effective. Existing programmes have shown that screening using this method is acceptable to health care professionals and patients. Setting up a national prenatal screening programme for cystic fibrosis is timely and should be implemented using the couple screening method.
N J Wald; J K Morris; C H Rodeck; J E Haddow; G E Palomaki
Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  23     ISSN:  0197-3851     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  2003 Jun 
Date Detail:
Created Date:  2003-06-18     Completed Date:  2003-10-16     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  England    
Other Details:
Languages:  eng     Pagination:  474-83     Citation Subset:  IM    
Copyright Information:
Copyright 2003 John Wiley & Sons, Ltd.
Wolfson Institute of Preventive Medicine, Barts and the London Queen Mary School of Medicine and Dentistry, London, UK.
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MeSH Terms
Cystic Fibrosis / diagnosis*,  genetics,  prevention & control
Family Characteristics
Genetic Testing*
Heterozygote Detection*
Preconception Care / methods*

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