Cystic fibrosis (CF) is the most common recessive condition affecting the White British population. Facilitating reproductive decision making for couples at genetic risk for CF is an important aspect of genetic counseling practice in the UK. The purpose of this study was to explore the reproductive decision making process for 31 members of CF carrier couples (15 men and 16 women) with or without an affected child.
View Article and Find Full Text PDFMatern Child Health J
September 2009
Objectives: The voices, perspectives, and experiences of pregnant and parenting women are vital sources of information often overlooked or not understood by professionals. The goals of this qualitative study were to understand access to maternal and child health services from the perspectives of diverse consumers, and provide rich descriptions to inform strategies to enhance the quality of this access. It explored key dimensions influencing their experiences, including health status and needs, significant others, cultural beliefs, and provider and organizational factors.
View Article and Find Full Text PDFIndividuals homozygous for the autosomal recessive disorder CF are known to have low blood pressure, thought to be caused by greatly increased sweat salt loss. We examined whether carriers of the CF gene also have low blood pressure. Our pilot studies had suggested an effect limited to females, leading to 2 further studies in white females.
View Article and Find Full Text PDFIt is good medical practice to offer carrier tests and counselling to the relatives of those affected by recessive disorders. Many are concerned about their own chances of having affected offspring. Cystic fibrosis carrier tests have been feasible since the discovery of the gene in 1989.
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