Comparison of prenatal ultrasound findings and autopsy findings in fetuses terminated after prenatal diagnosis of malformations: an experience of a clinical genetics center.

OBJECTIVE: To compare antenatal diagnosis with post mortem examination findings in the pregnancies terminated after prenatal detection of anomalies and to evaluate the potential benefits of post mortem examination for counseling regarding the risk of recurrence.
METHODS: This is a retrospective study over a 7-year period from 2001 to 2007. Pregnancies terminated after prenatal identification of fetal malformation were evaluated by post mortem examination of 91 fetuses.
RESULTS: Fetal autopsy provided a definite diagnosis in 72/91 (79.1%) of the cases. Fetal autopsy confirmed the sonographic findings in 89 of 91 cases (97.8%). In 66 (72.5%) cases there was complete concordance between prenatal and autopsy findings, while in 23 cases there was major concordance. There were 49 cases with isolated malformations, 41 cases with multiple (89) malformations, and, in one case, no malformation was found at autopsy. Of the 89 associated malformations, 39 (43.8%) were detected prenatally and 50 (56.2%) were detected on fetal autopsy. The additional malformations detected on autopsy included 38 major and 12 minor malformations Additional findings helped in redefining the diagnosis and the risk of recurrence in 30 of 91 (33%) cases.
CONCLUSION: The present study emphasizes the importance of autopsy in providing accurate etiologic diagnosis necessary for genetic counseling.