International perspectives on the implementation of reproductive carrier screening

Martin B. Delatycki Fowzan Alkuraya Alison Archibald Carlo Castellani Martina Cornel Wayne W. Grody Lidewij Henneman Adonis Ioannides Edwin Kirk Nigel Laing Anneke Lucassen John Massie Juliette Schuurmans Meow‐Keong Thong Irene van Langen Joël Zlotogora (2019). Prenatal Diagnosis. doi:10.1002/pd.5611

The goal of carrier screening is to inform people about their risk of having children with autosomal recessive and X‐linked recessive disorders, to allow for informed decision making about reproductive options. The consequence may be a decrease in the birth prevalence of these conditions, which has occurred in several countries for some conditions.
A national screening programme for the prevention of Friedreich ataxia has been running since 2011. It is offered to individuals of child bearing age who originate from the Paphos district of Cyprus and is based on the high frequency of carriers in this section of the population which is estimated to be about 1 in 11. Referrals are made by primary care doctors or obstetricians and testing is for the common GAA repeat expansion in intron 1 of the FXN gene.


International perspectives on the implementation of reproductive carrier screening