POSVERT.ppt - PowerPoint PPT Presentation

Title: POSVERT.ppt


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
RESULTS 2007 194 infants diagnosed 60 sickle
cell disease/HbP 70 metabolic disorder 57 CHT 7
CAH

• 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

• 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
200987118-125. Vansenne et al. Ned Tijdschr
Geneeskd 2009153B366. Visser et al. Ned
Tijdschr Geneeskd 2009153B360.
www.rivm.nl/pns/Images/TNO20hielprikvoorlichting
202008_tcm95-56924.pdf
Email mc.cornel_at_vumc.nl