Since the late 1970s when the potential of the immunoreactive trypsinogen assay for early
identification of infants with cystic fibrosis was first recognised, the performance of newborn …

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

Purpose To describe our experience of offering simultaneous genetic carrier screening for
cystic fibrosis (CF), fragile X syndrome (FXS), and spinal muscular atrophy (SMA). Methods …

Reproductive genetic carrier screening (RCS), when offered to anyone regardless of their
family history or ancestry, has been subject to the critique that it is a form of eugenics …

Expanded carrier screening (ECS) analyzes dozens or hundreds of recessive genes to
determine reproductive risk. Data on the clinical utility of screening conditions beyond …

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 …

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 …

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

Objective: To compare three cystic fibrosis (CF) newborn screening strategies used in
Victoria since 1989. Design, setting and participants: Retrospective review of newborn …

Background Globally, about 6% of children are born with a serious birth defect of genetic or
partially genetic origin. Carrier screening or testing is one way to identify couples at …