Genetic counselling in cystic fibrosis

✍ Scribed by E. Passarge; B. Eckerland; U. Stephan

• Publisher: Springer
• Year: 1984
• Tongue: English
• Weight: 377 KB
• Volume: 143
• Category: Article
• ISSN: 0340-6997
• DOI: 10.1007/bf00442749

✦ Synopsis

In a survey by questionnaire of 572 families with one or more children affected with cystic fibrosis 72% were found to have received genetic counselling. The mode of inheritance was correctly known by only 45% and either not known or incorrectly known by the others. About 75% expressed the wish for more information on the genetics of cystic fibrosis. The data indicate that genetic counselling in cystic fibrosis is not given or is ineffective in a high proportion of families. It is suggested that genetic counselling, backed up by a written resum6 should be a regular part of the management of families with this disease. The genetic data are consistent with autosomal recessive inheritance at a single locus.