Carrier screening aims to identify couples at risk of conceiving children with a recessive
condition. Until recently, carrier screening was primarily offered ancestry-based …

Despite no consensus on the definition of 'seriousness', the concept is regularly used in
policy and practice contexts to categorise conditions, determine access to genetic …

Objectives Genomic advancements affect people with disabilities. This paper presents the
findings of a scoping literature review on the ethical, legal, and social implications (ELSI) of …

Introduction Awareness toward premarital screening test and its influence on preventing
high risk marriages has become a concern to the health care system in Oman. This is due to …

In an age of expanded genetic screening, fragile X syndrome is increasingly considered a
candidate condition, given its prevalence, the absence of curative interventions, and its …

Rare disease (RD) is a term used to describe numerous, heterogeneous diseases that are
geographically disparate. Approximately 400 million people worldwide live with an RD …

Background Anxiety related to prenatal screening programs negatively affects maternal and
child health. Objective The study aimed to determine the effect of Cognitive Behavioral …

Approximately 1% to 2% of reproductive couples (ie, the two genetic contributors to a
pregnancy) have an “increased chance” of having children with autosomal recessive (AR) or …

This article explores the significance of lived experience to understandings of severity in the
genomic age. It draws upon data from structured interviews with 21 people living with …

Purpose To explore the genotypes and allele frequencies of α, β and α+ β thalassemias in Li
minorities, which resided in Hainan Province of China for a long time. Methods In the …