This document of the European Society of Human Genetics contains recommendations
regarding responsible implementation of expanded carrier screening. Carrier screening is …

Background As interest in reproductive genetic carrier screening rises, with increased
availability, the role of healthcare practitioners is central in guiding uptake aligned with a …

Tay-Sachs disease (TSD) is a fatal, recessively inherited neurodegenerative condition of
infancy and early childhood. Although rare in most other populations, the carrier frequency is …

This study aims to estimate the prevalence rates of β-thalassemia and Sickle cell disorders
in the adult population screened (n= 275,819) as part of the Kuwaiti National Premarital …

Background Preconception carrier screening (PCS) provides the potential to empower
couples to make reproductive choices before having an affected child. An important question …

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

Cystic fibrosis (CF) is a life-limiting autosomal recessive disorder affecting~ 1 in 2500–4000
Caucasians. As most CF patients have no family history of the disorder, carrier screening for …

Advancing genetic testing technologies mean that population‐based carrier screening for
multiple inherited conditions is now available. As the number of genetic conditions being …

Background Until very recently, preconception genetic testing was only conducted in
particular communities, ethnic groups or families for which an increased risk of genetic …

Reproductive genetic carrier screening (RGCS) for hundreds of different genetic conditions
is technically available for prospective parents, but these tests have not been integrated in a …