Does autopsy of antenatally diagnosed malformed foetuses aid genetic counselling?

Abstract

Background. Many pregnancies are terminated because of ultrasonographic diagnosis of malfonnation in the foetus. A detailed foetal autopsy isneeded to arrive at a definite diagnosis on the basis of which genetic counselling can be provided. Methods. Sixty-one foetuses, terminated because of antenatal diagnosis of congenital malformations by ultrasound, were autopsied. The ultrasound diagnosis was compared with the diagnosis reached after autopsy. Results. In 31 cases (51 %) the autopsy provided additional findings. In 21 cases (34.4%), the autopsy changed the primary diagnosis. The revised diagnosis led to a change In the risk of recurrence in 18 cases (29.5%). Conclusion. Genetic counselling depending solely on ultrasonographic foetal diagnosis may be erroneous. For appropriate genetic counselling, a detailed foetal examination should be carried out after tennlnation in cases with ultrasonographically detected congenital malfonnations.