Cystic fibrosis: selecting the prenatal screening strategy of choice |
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Authors: | N J Wald J K Morris C H Rodeck J E Haddow G E Palomaki |
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Institution: | 1. Wolfson Institute of Preventive Medicine, Barts and the London Queen Mary School of Medicine and Dentistry, London, UK;2. Department of Obstetrics and Gynaecology, University College London, London, UK;3. Foundation for Blood Research, Scarborough, Maine, USA |
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Abstract: | 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. Copyright © 2003 John Wiley & Sons, Ltd. |
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Keywords: | cystic fibrosis prenatal screening couple screening |
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