J. Frezal et al., ANTENATAL DIAGNOSIS, NEONATAL SCREENING A ND CARRIER DETECTION FOR CYSTIC-FIBROSIS OF PANCREAS, Bulletin de l'Academie nationale de medecine, 177(3), 1993, pp. 405-412
The efficiency of neonatal screening for CF could be improved by assoc
iating a molecular analysis to the immunoreactive trypsin test, on the
same dried blood's sample. However the interest of such a screening f
or the patients benefit remains controversial. In most cases, antenata
l diagnosis may be performed by a direct search of the mutation(s). Ho
wever, the impact of antenatal diagnosis on CF's incidence will necess
arily be limited if it can only be implemented after the birth of an a
ffected child. Hence the interest of screening programs for the detect
ion of healthy carriers. Carrier's detection does not raise any object
ion for the relatives of patients. It is still premature to recommend
it to be undertaken in the general population.