Reproductive carrier screening started in some countries in the 1970s for
hemoglobinopathies and Tay‐Sachs disease. Cystic fibrosis carrier screening became …

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

This paper presents an overview of the conclusions from an international conference
convened to address current issues related to the provision of Cystic Fibrosis carrier …

With the increased international focus on personalized health care and preventive medicine,
next-generation sequencing (NGS) has substantially expanded the options for carrier …

Cystic fibrosis is the most common severe autosomal recessive disease, with a prevalence
of 1 in 2,500–3,500 live births and a carrier frequency of 1 in 25 among Northern Europeans …

Expanded universal carrier screening (EUCS) entails a twofold expansion of long-standing
(preconception) carrier screening programmes: it not only allows the simultaneous …

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

Purpose Current practice recommendations support the widespread implementation of
reproductive genetic carrier screening (RGCS). These consensus-based recommendations …

Background: General practitioners (GPs) provide advice to women and couples before and
during pregnancy to optimise the health and wellbeing of couples and their child. Genetic …

Discussing carrier screening during preconception consultation in primary care has a
number of advantages in terms of promoting autonomy and enabling the greatest range of …