Evaluation of population newborn screening practices for rare disorders in member states of the European Union

Abstract

Table of content page\rA. Introduction .....................................................................................................................4\rB. Methods of the survey.....................................................................................................5\rC. Main Results ...................................................................................................................9\rC.1 Provisions assuring the control of NBS programs .................................................9\r1 Governance ..........................................................................................................9\r2 Criteria for the selection of screened conditions.................................................11\r3 Costs and resources...........................................................................................11\rC.2 Operation of the newborn screening system .......................................................12\r4 Information to prospective parents .....................................................................12\r5 Informed consent................................................................................................12\r6 Blood spot sampling ...........................................................................................13\r7 Blood spot storage..............................................................................................14\r8 Laboratory procedures........................................................................................15\r9 Test methodology ...............................................................................................18\r10 Confirmative diagnostics.....................................................................................21\r11 Information and communication to parents.........................................................23\r12 Treatment ...........................................................................................................24\rC.3 Quality and Quality assurance.............................................................................25\r13 Monitoring epidemiological evaluation................................................................25\r14 Monitoring long- term outcome...........................................................................25\r15 Quality assurance in the confirmative diagnostics stage....................................26\r16 Training of professionals.....................................................................................27\rC.4 Awareness, support and empowerment ..............................................................28\r17 Awareness and support......................................................................................28\r18 Empowerment.....................................................................................................29\rD. Results across domains................................................................................................29\r19 Correspondence of guidelines and actual practice.............................................29\rE. Results across countries...............................................................................................