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First experiences with the extended newborn screening program in The Netherlands

First experiences with the extended newborn screening program in The Netherlands. BACKGROUND Health Council of the Netherlands 22 August 2005: Advice to extend newborn screening program from 3 to 18 diseases. Decision of Ministry of Health 24 November 2005: accept advice, start by 01.01.2007.

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First experiences with the extended newborn screening program in The Netherlands

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  1. First experiences with the extended newborn screening program in The Netherlands BACKGROUND Health Council of the Netherlands 22 August 2005: Advice to extend newborn screening program from 3 to 18 diseases. Decision of Ministry of Health 24 November 2005: accept advice, start by 01.01.2007 Martina C Cornel Section Community Genetics, Dept of Clinical Genetics; EMGO Institute for Health & Care Research VU University Medical Center, Amsterdam, The Netherlands & Centre for Society & Genomics, Nijmegen, The Netherlands • GOAL • Identify children with conditions where early diagnosis contributes to the prevention of considerable irreparable damage • Before 2007 • Phenylketonuria • Congenital hypothyroidism • Congenital adrenal hyperplasia • Additional • Biotinidase deficiency • Cystische fibrosis (conditional; pilot 2008) • Galactosemia • Glutaric aciduria type I • HMG-CoA-lyase deficiency • Holocarboxylase synthase deficiency • Homocystinuria • Isovaleric acidemia • Long-chain hydroxyacyl CoA dehydrogenase deficiency • Maple syrup urine disease • MCAD deficiency • 3-methylcrotonyl-CoA carboxylase deficiency • Sickle cell disease • Tyrosinemia type I • Very-long-chain acylCoA dehydrogenase deficiency RESULTS 2007 194 infants diagnosed 60 sickle cell disease/HbP 70 metabolic disorder 57 CHT 7 CAH • UNINTENTIONAL FINDINGS 2007 • 806 infants carrier of HbS • The challenges: • informed decision making (not) to opt out of receiving carrier status information. • inform parents to facilitate informed reproductive choice for next pregnancies. GPs receive letter, parents 2 weeks later. UPTAKE after extension and providing information during third trimester: 99.75% (stable) INFORMED DECISION 80% heelprick in general 60% carrier information References: Health Council of the Netherlands. Neonatal Screening. The Hague: Health Council of the Netherlands, 2005; publication no. 2005/11. Plass et al. Tijdschrift Gezondheidswetenschappen 2009;87:118-125. Vansenne et al. Ned Tijdschr Geneeskd 2009;153:B366. Visser et al. Ned Tijdschr Geneeskd 2009;153:B360. www.rivm.nl/pns/Images/TNO%20hielprikvoorlichting%202008_tcm95-56924.pdf Email: mc.cornel@vumc.nl

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