[Practical aspects of genetic counseling in pediatric surgically correctable congenital abnormalities].
The principles of genetic counselling are discussed with special emphasis on congenital structural defects amenable to paediatric surgery. Basic requirements for genetic counselling include, for the consultants, motivation, and for the physician, (geneticist or other), that all diagnostic investigations have been performed to allow for a genetic classification of the defect, and that all possible further family members at risk of transmitting or carrying the mutant gene have been detected. During the genetic counselling session, the following topics are usually discussed: nature and significance of the congenital defect; prognosis; recurrence risk for different family members; prenatal diagnosis, if possible; other preventive measures. Because of progress in treatment and correction of congenital malformations, but also due to alteration in reproductive habits of the general population, genetic counselling has become increasingly important in the recent past. It does, and will require in increasing measure, a good cooperation between paediatric surgeons and medical geneticists.
D002648:Child; D000013:Congenital Abnormalities / Q000235:genetics* / Q000601:surgery; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D006801:Humans; D011379:Prognosis; D012017:Referral and Consultation; D012306:Risk
Praktische Aspekte der genetischen Beratung bei kinderchirurgisch korrigierbaren angeborenen Fehlbildungen.