Cystic fibrosis screening in assisted reproduction.
OBJECTIVE
The purpose of this review is to discuss the incidence of cystic fibrosis in the general population, in ethnically diverse populations and specifically in couples needing assisted reproduction caused by male factor subfertility. We review the current understanding of risks for reproductive couples and discuss ideal screening strategies.


RESULTS
In ethnically diverse populations, a large difference in clinical sensitivity and birth prevalence exists between the broad racial/ethnic groups examined. Extensive data clearly demonstrate the cost-effectiveness of cystic fibrosis screening. Testing for cystic fibrosis gene mutations is reliable and, with a 26-mutation panel, nearly 90% of possible severe mutations can be detected. To halve the incidence of cystic fibrosis in the community, by offering genetic testing of the fetus if both partners are carrier positive, may also be possible.


CONCLUSIONS
Recent guidelines suggest that all couples contemplating pregnancy should be informed of molecular screening for cystic fibrosis carrier status for purposes of genetic counselling. In ethnically diverse populations, ethnic-specific mutations should be included in the mutation panels.
Gazvani
Rafet
R
Liverpool Women's Hospital, Liverpool, UK. gazvani@hotmail.com
Lewis-Jones
Iwan
I
D003550:Cystic Fibrosis / Q000150:complications / Q000175:diagnosis* / Q000208:ethnology; D005820:Genetic Testing; D006801:Humans; D007248:Infertility, Male / Q000209:etiology*; D008297:Male; D009845:Oligospermia / Q000209:etiology*; D027724:Reproductive Techniques, Assisted; D014649:Vas Deferens / Q000002:abnormalities