[Early diagnosis of cystic fibrosis: to screen or not to screen?].
After an experimental neonatal screening program for cystic fibrosis (CF) had been carried out in the Netherlands during 1973-1979, a follow-up study to evaluate the effects of neonatal screening was started in 1980. The results of this study suggest that early diagnosis and appropriate treatment may prevent serious deterioration and death at a young age, and may reduce the extent of early irreversible lung damage in patients with CF. The short period between the birth of an affected child and the diagnosis and the timely information on the high recurrence risk, may lead to a significant reduction in subsequent births in the case of neonatal screening. However it is still doubtful whether general neonatal screening for CF should be recommended, as treatment directed against the harmful effects of the genetic defect is not yet available.
Dankert-Roelse
J E
JE
Afd. Kinderlongziekten, Kinderkliniek Academisch Ziekenhuis Groningen.
D002648:Child; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000401:mortality / Q000628:therapy; D005189:False Positive Reactions; D005817:Genetic Counseling; D006801:Humans; D007231:Infant, Newborn; D011296:Prenatal Diagnosis; D011379:Prognosis
Vroegdiagnostiek van cystic fibrosis: screenen of niet screenen?