[Screening for gene carrier state of cystic fibrosis: pros and cons of various scenarios].
OBJECTIVE
The discovery of the gene for cystic fibrosis (CF) and its most frequent mutations makes screening for carrier state possible in the general population. We surveyed the possible strategies for a screening offer to persons without a family history of CF.


METHODS
Theoretical evaluation.


METHODS
With probability calculations and evaluation of psychosocial factors, the advantages and drawbacks of embryonal, neonatal, school, preconceptional and prenatal screening were evaluated.


RESULTS
Embryonal and neonatal screening have the disadvantage that a number of preventive options are no longer open, and school screening has psychosocial disadvantages. The offer of screening should be made to persons in the reproductive age group, preferably before a pregnancy. A screening offer made to couples is preferable to an offer made to individuals. A consequence of the fact that present test sensitivity is still incomplete is that screening does not reduce the estimated risk of positive/negative couples having a child with CF to less than the risk without screening (1:3600). Couple screening gives more certainty about the risk, but it results in twice as many positive/negative couples as stepwise screening (only when one partner is positive is the second partner screened).
Kooij
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Vakgroep Gezondheidswetenschappen/Noordelijk Centrum voor Gezondheidsvraagstukken, Rijksuniversiteit, Faculteit der Geneeskunde, Groningen.
D002648:Child; D002675:Child, Preschool; D015193:Chorionic Villi Sampling; D003550:Cystic Fibrosis / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D016742:Preconception Care; D011247:Pregnancy; D011295:Prenatal Care; D011296:Prenatal Diagnosis
Screening op gendragerschap van cystische fibrose: voor- en nadelen van verschillende scenario's.