Cystic fibrosis: selecting the prenatal screening strategy of choice
- 28 April 2003
- journal article
- review article
- Published by Wiley in Prenatal Diagnosis
- Vol. 23 (6) , 474-483
- https://doi.org/10.1002/pd.618
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.Keywords
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