Genetic counselling in cystic fibrosis. Results of a survey of 572 families
Passarge, E.; Eckerland, B.; Stephan, U.
European Journal of Pediatrics 143(1): 54-57
1984
ISSN/ISBN: 0340-6199 PMID: 6510431 Document Number: 223394
In a survey by questionnaire of 572 families with 1 or more children affected with cystic fibrosis, 72% were found to have received genetic counseling. 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. Genetic counseling in cystic fibrosis is not given or is ineffective in a high proportion of families. Genetic counseling, backed up by a written resume 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.