Aims of the MECFA Newborn Screening Working Group
Specific aims of the MECFA CF Neonatal Screening Committee (working group):
1. To support the implementation of Newborn Screening (NBS) for CF in the Middle East countries,
2. To monitor performance and compare protocols to optimise effectiveness,
3. To encourage enrolment of all infants identified through NBS in clinical trials
4. To determine the optimal management of infants with an equivocal diagnosis following newborn screening.
Broader objectives
1. To work in an open and inclusive manner
2. To encourage membership of the MECFA
3. To encourage participation from neighbouring countries,
4. To increase the collaboration with ECFS Neonatal Screening Working Group
As a newly established association, our aim as a first step is organizing a questionnaire circulated to Middle East countries for raising awareness and update information on CF neonatal screening. This questionnaire will enable us to have a background for a standardized newborn screening programme (NBS) in the region. In Turkey, national NBS has been started since January 2015. As a member of the Advisory Board and Steering Committee of this programme, I can share my experience and using the published evidence-based guidelines, we can implement a standardized NBS programme in the Middle East countries.
Furthermore, adding genetic analysis to the NBS protocols should be the next step. The genetic variances across the countries should be detected and may be country based approach should be implemented in that area. In the end, best possible protocol for each region can be used.
The last but not least issue is, working on three main areas of debate:
IRT cut-offs
Processing of positive and carrier results
Processing and management of infants diagnosed following newborn screening for CF
As a product of these steps, multicentered manuscripts will be expected to be published.
A NBS programme in the Middle East can enable a standardized CF care in the region, will give reliable data for CF Registry and of course, will increase the quality of the healthcare given to CF patients.
