Background A substantial number of severely debilitating and often ultimately fatal inborn
errors of metabolism (IEMs) still lack an effective disease-modifying treatment. Informing …

Preconception carrier screening offers couples the possibility to receive information about
the risk of having a child with a recessive disorder. Since 2016, an expanded carrier …

Background Expanded carrier screening (ECS) is aimed at detecting carrier states for
autosomal recessive (AR) or X‐linked conditions in couples from the general population …

Background Carrier screening is generally performed with the aim of identifying healthy
couples at risk of having a child affected with a monogenic disorder to provide them with …

Introduction: Carrier screening for recessive disorders is undertaken by prospective parents
to inform their reproductive decisions. With the growing availability of affordable and …

Newborn screening and genetic testing have expanded rapidly in the last decade with the
advent of multiplex (eg, tandem mass spectrometry) and/or DNA technologies. However …

Aim: To explore the views of clinical and molecular geneticists on the inclusion of disorders
and specific pathogenic mutations into expanded carrier screening (ECS) tests for …

Reproductive autonomy, medicalization, and discrimination against disabled and parental
responsibility are the main ongoing ethical debates concerning reproductive genetic …

BACKGROUND Through carrier screening, prospective parents can acquire information
about whether they have an increased risk of conceiving a child affected with an autosomal …

Objective To explore attitudes of clinical and molecular geneticists about the implementation
of multi-disease or expanded carrier screening (ECS) for monogenic recessive disorders …