Is Neonatale Screening op Mucoviscidose aangewezen in België?

2 Cystic Fibrosis Neonatal Screening KCE Reports 132
5.2 EARLIER REFERRAL TO A CF CENTRE. ............................................................................................. 38
5.2.1 How important is it ? ..................................................................................................................... 38
5.2.2 Room for improvement in Belgium ............................................................................................ 38
5.3 OPTIMIZING QUALITY OF CF CARE IN BELGIUM ........................................................................ 39
5.3.1 Caveat : comparing data from different countries is difficult. ............................................... 39
5.3.2 Selected data ................................................................................................................................... 39
5.3.3 Scandinavia : the best outcomes without NBS programs. ..................................................... 42
5.3.4 Quality of CF care in industrialized countries is heterogeneous ......................................... 42
6 SCREENING STRATEGIES .......................................................................................... 45
6.1 LITERATURE ............................................................................................................................................... 45
6.2 DESCRIPTION OF THE VARIOUS PROTOCOLS ............................................................................ 45
6.2.1 IRT issues ......................................................................................................................................... 48
6.2.2 Screening algorithms ...................................................................................................................... 51
6.3 DIAGNOSIS THROUGH CF NEONATAL SCREENING ................................................................ 58
6.3.1 Sweat test ........................................................................................................................................ 58
6.3.2 Inconclusive diagnosis .................................................................................................................... 59
6.4 INTERNATIONAL RECOMMENDATIONS ........................................................................................ 61
6.4.1 Australasian paediatric respiratory group (2005) .................................................................... 61
6.4.2 Cystic Fibrosis Foundation Consensus Report (2008) ........................................................... 61
6.4.3 European best practice guidelines (2009) ................................................................................. 61
6.4.4 Newborn screening of cystic fibrosis in France (2009) .......................................................... 62
6.4.5 Laboratory Guide to Newborn Screening in the UK for Cystic Fibrosis (2009) ............. 62
7 BELGIAN SITUATION ................................................................................................. 63
7.1 CURRENT SCREENING INFRASTRUCTURES .................................................................................. 63
7.2 CHOICE OF A STRATEGY ..................................................................................................................... 63
7.2.1 IRT measurement ........................................................................................................................... 65
7.2.2 Belgian genetics ............................................................................................................................... 65
7.2.3 Consideration of PAP measurement .......................................................................................... 69
8 STUDY OF ETHICAL AND LEGAL ASPECTS ......................................................... 73
8.1 INTRODUCTION ...................................................................................................................................... 73
8.2 FREE CONSENT AND INFORMATION BEFORE AND AFTER SCREENING .......................... 73
8.2.1 Free consent .................................................................................................................................... 73
8.2.2 Information before the screening ............................................................................................... 74
8.2.3 Information after the first screening test .................................................................................. 75
8.3 PRIVACY, STORING AND RESEARCH ON DNA............................................................................ 75
8.3.1 Privacy ............................................................................................................................................... 75
8.3.2 Stocking the newborn’s tissue for research ............................................................................. 76
8.4 UNAVOIDABLE DETECTION OF CARRIERS ................................................................................... 77
8.4.1 Implications for children ............................................................................................................... 77
8.4.2 Implications for parents ................................................................................................................ 77
8.4.3 Use of carrier status for parental reproductive decision-making ........................................ 77
8.5 THE RISK FOR A LEGAL PURSUIT IN CASE OF FALSE POSITIVE/FALSE NEGATIVE TEST
RESULTS ....................................................................................................................................................... 78
8.5.1 Introductory remark ...................................................................................................................... 78
8.5.2 Liability for false positive/false negative test results: an exercise in the dark. ................... 78
8.6 LEGISLATION APPLICABLE TO CF NBS ............................................................................................ 80
9 REVIEW OF THE COST-EFFECTIVENESS LITERATURE ..................................... 85
9.1 METHODS ................................................................................................................................................... 85
9.1.1 Literature search strategy ............................................................................................................ 85
9.1.2 Selection criteria ............................................................................................................................. 85
9.1.3 Selection process ............................................................................................................................ 86
9.2 OVERVIEW AND DISCUSSION OF ECONOMIC EVALUATIONS ............................................. 87
9.2.1 Dauphinais, 1992 341 ........................................................................................................................ 87
9.2.2 Farrell et al., 1992 342 ...................................................................................................................... 88