Expanded carrier screening (ECS) has been demonstrated to increase the detection rate of
carriers compared with traditional tests. The aim of this study was to assess the potential …

Introduction: To determine the carrier frequency and common mutations of Mendelian
variants in Chinese couples using next-generation sequencing (NGS). Methods …

Purpose: Thalassemia is one of the most common monogenic diseases in southwestern
China, especially among the Dai ethnic group. Here, we explore the feasibility of a next …

Objective The objective of this study was to explore the clinical utility of the implementation
of expanded carrier screening (ECS) in Chinese population of childbearing age. Materials …

Purpose The recent growth in pan-ethnic expanded carrier screening (ECS) has raised
questions about how such panels might be designed and evaluated systematically. Design …

Importance Screening for carrier status of a limited number of single-gene conditions is the
current standard of prenatal care. Methods have become available allowing rapid expanded …

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 …

Purpose Prenatal genetic carrier screening can identify parents at risk of having a child
affected by a recessive condition. However, the conditions/genes most appropriate for …

The primary goal of carrier screening is to identify asymptomatic individuals who carry
variants associated with genetic diseases, to inform about the risk of having a child with a …

Objective Faster and cheaper next generation sequencing technologies have enabled
expansion of carrier screening for recessive disorders, potentially facilitating population …