Download het volledig rapport (302 p.) - KCE

KCE reports vol. 6A Prenatale zorg 218
Study Ref Populatio
n
Interventio
n
Outcomes Results Comments Study type EL
Gastro-intestinal tract
and pancreas
Enzyme replacement
Gastric acid suppression
High calorie oral
supplement
Nocturnal gastrostomy
feeding
Nocturnal jejunostomy
feeding
Liver Ursodeoxycholate (a
choleretic agent)
Liver transplant
General Protein repair therapy
What are the screening models to identify carrier-couples?
Study Ref Population Intervention Outcomes Results Comment
Richards and
Haddow, 2003
92 Screening models Two-step (sequential) model:
Mutation analysis is performed initially on
the woman´s sample, with counselling
offered to the couple whenever a mutation
is identified. The male partners of women
with identified mutations then are offered
testing. When both partners carry
identifiable mutations, they are offered
further counselling and diagnosis.
One-step (couple) model:
Both the woman and her partner opt for
screening at the onset, and both must
submit samples before laboratory testing is
initiated. Testing is performed on the
womanÊs sample first: if this reveals an
s
Study type EL
RV 4