FETAL ABNORMALITIES DETECTED BY SONOGRAPHY IN LOW-RISK PREGNANCIES - DISCREPANCIES BETWEEN PRE-TERMINATION AND POST-TERMINATION FINDINGS

In this geographically based study the findings on 158 abnormal fetuse s, primarily diagnosed by routine antenatal ultrasound, are correlated with the results of the examinations subsequently carried out by a fe topathologist and a clinical geneticist. Ninety fetuses (57%) had a si ngle malformation, 66 were polymalformed (42%) and 2 had no malformati ons. In 90% of all these cases, the prenatally and postnatally detecte d anomalies were identical; in 3% the defect established at necropsy w as different from that diagnosed prenatally, and in 7% the predicted a nomaly was absent. These values did not depend on whether single or mu ltiple malformations were involved. In 57% of the polymalformed cases, however, the ultrasound examination missed at least one other diagnos able anomaly. On the basis of pathological and clinical genetic expert ise, a risk of recurrence of the anomaly was revised in 13% of the sin gle malformed cases and in 53% of the multiple ones, i.e., in 30% of a ll the cases of malformation on average. This study confirms the need for the fetus to be examined by a pathologist and a clinical geneticis t after termination of a not 'at risk' pregnancy in order to check the accuracy of the sonographic procedure, to confirm the reasons for ter minating the pregnancy to the parents, and to be able to monitor the n ext pregnancy based on an accurate assessment of the risk of recurrenc e.