title: [Preconceptional carrier screening should not be delayed].
abstract: Couples who are both carriers of the same autosomal recessive disorder are usually unaware of this fact until a child is born with a serious disorder. Preconceptional carrier screening can make them aware of this risk before pregnancy, and thus allow for informed reproductive decision-making. The Health Council of the Netherlands advised the Dutch government that a programme for preconceptional consultation should be implemented, alongside a large pilot project for preconceptional screening for cystic fibrosis and the haemoglobinopathies, but neither of these has been implemented to date. Future parents now depend on local initiatives, as well as on commercial tests offered via the Internet that may not always pay adequate attention to screening criteria and facilities for counselling. The government should accept responsibility for making clinically beneficial screening methods available within the public healthcare sector.
authors.affiliation: VU medisch centrum, afd. Klinische Genetica, Amsterdam, the Netherlands.
authors.forename: Martina C
authors.initials: MC
authors.lastname: Cornel
authors.forename: Phillis
authors.initials: P
authors.lastname: Lakeman
authors.forename: Wybo
authors.initials: W
authors.lastname: Dondorp
mesh_terms: D002869:Chromosome Aberrations; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D005817:Genetic Counseling; D005820:Genetic Testing; D006453:Hemoglobinopathies / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008297:Male; D016742:Preconception Care / Q000379:methods*