DOES AUTOPSY OF ANTENATALLY DIAGNOSED MALFORMED FETUSES AID GENETIC-COUNSELING

Background. Many pregnancies are terminated because of ultrasonographi c diagnosis of malformation in the foetus. A detailed foetal autopsy i s needed to arrive at a definite diagnosis on the basis of which genet ic counselling can be provided. Methods. Sixty-one foetuses, terminate d because of antenatal diagnosis of congenital malformations by ultras ound, were autopsied. The ultrasound diagnosis was compared with the d iagnosis reached after autopsy. Results, In 31 cases (51%) the autopsy provided additional findings. In 21 cases (34.4%), the autopsy change d the primary diagnosis. The revised diagnosis led to a change in the risk of recurrence in 18 cases (29.5%). Conclusion; Genetic counsellin g depending solely on ultrasonographic foetal diagnosis may be erroneo us. For appropriate genetic counselling, a detailed foetal examination should be carried out after termination in cases with ultrasonographi cally detected congenital malformations.