Is Neonatale Screening op Mucoviscidose aangewezen in België?

30 Cystic Fibrosis Neonatal Screening KCE Reports 132
In practice however, this complex issue remains controversial. It is usually accepted that
IRT-DNA algorithms should include a panel of mutations detecting at least 80% of
mutations in a selected population. Data from the Belgian registry show that it would be
difficult to reach this level without including some Class IV or V mutations. This seems
acceptable in some cases. It is now recognized that a few well-studied CF mutations
which globally result in a rather mild phenotype such as D1152H, 126 A455E, 123 2789+ 5
G→ A and 3849 +10kb C→T 125 are in fact associated with a broad clinical spectrum
quite commonly including early lung disease. Moreover, though these patients are often
diagnosed later, severe lung disease with chronic colonization by PA at the time of
diagnosis is not uncommon. 126, 139, 154 The case of the R117H (class IV) mutation has been
discussed in detail in chapter 3. It is suggested that this mutation should not be included
in the initial panel of mutations. Though currently recommended, 5, 147 extensive
investigation of asymptomatic infants with elevated IRT (D3), 1 CFTR mutation and
repeatedly intermediate sweat chloride values is also debatable as even if they are found
to carry 2 CFTR gene changes, most of them are unlikely to develop significant
respiratory symptoms in early childhood.
4.1.2 Defining an operational network
Algorithms will be discussed in chapter 6. Whatever the choice, guidelines recommend
to clearly identify and assemble those who will have operational responsibility, typically
including all of the CF centre directors and a CF newborn screening coordinator for
each screening centre. The role of the primary care physician and the regional
paediatrician, if any, should also be defined.
Pathway for result notification should be well defined as illustrated in Figure 2 which
summarize the current Australian approach. 148
Figure 2. Pathway of notification and follow-up of positive results from NBS
for CF (Australia).
* Approach in New Zealand is to recall all infants with one or two mutations for sweat test
before referral to CF physician.