Genetic counselling issues in cystic fibrosis

Bronwyn Culling; Robert Ogle

doi:10.1016/j.prrv.2010.01.001

Genetic counselling issues in cystic fibrosis

Paediatr Respir Rev. 2010 Jun;11(2):75-9. doi: 10.1016/j.prrv.2010.01.001. Epub 2010 Mar 27.

Authors

Bronwyn Culling¹, Robert Ogle

Affiliation

¹ Department of Molecular and Clinical Genetics, Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia.

PMID: 20416541
DOI: 10.1016/j.prrv.2010.01.001

Abstract

Cystic fibrosis is a chronic condition for which genetic testing offers much for the individuals affected in terms of an early diagnosis and offers timely additional information for families with regard to family planning and prenatal testing. Genetic counselling encompasses a range of clinical issues for families and forms a complementary resource for clinicians caring for people with cystic fibrosis. This review will discuss the range of genetic information readily available to patients and families through genetic counselling.

Publication types

Review

MeSH terms

Cystic Fibrosis / diagnosis
Cystic Fibrosis / genetics*
Genetic Counseling*
Genetic Testing
Genotype
Humans
Infant, Newborn
Mass Screening
Mutation / genetics
Neonatal Screening
Phenotype
Prenatal Diagnosis