Cystic fibrosis: selecting the prenatal screening strategy of choice.
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.
Wald
N J
NJ
Wolfson Institute of Preventive Medicine, Barts and the London Queen Mary School of Medicine and Dentistry, London, UK. n.j.wald@qmul.ac.uk
Morris
J K
JK
Rodeck
C H
CH
Haddow
J E
JE
Palomaki
G E
GE
D000328:Adult; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics / Q000517:prevention & control; D005191:Family Characteristics; D005260:Female; D006580:Genetic Carrier Screening; D005820:Genetic Testing; D006801:Humans; D008297:Male; D016742:Preconception Care / Q000379:methods*; D011247:Pregnancy