Abstract

Objective: To establish the accuracy of prenatal diagnosis by comparing diagnoses made in Fetal Medicine compared to those made after birth until hospital discharge. Methods: All cases seen in Fetal Medicine between 01/06/04 and 01/12/05 were collected and sorted according to diagnosis. Relevant outcome data on all these pregnancies were obtained from electronic and written sources. Women still not delivered were excluded from this initial analysis (195 cases), but will be available by the time of presentation. Otherwise follow-up is 100% complete. Results: 678 women were seen in the Fetal Medicine Unit, which involved 1256 visits, and 382 procedures. 483 (71.2%) had delivered by the time of this analysis. Of these, 282 were found to have no abnormality, 40 had minor abnormality, and 161 had major abnormality prenatally. Those cases with major abnormalities had a livebirth rate of 55.3% versus 94.5% in those with no abnormalities. With regard to accuracy of diagnosis, 398 livebirths were studied. The prenatal diagnosis was confirmed in 91.2%, while abnormalities that resolved accounted for 8%. Missed extra diagnosis which led to a significant clinical effect accounted for 0.8% cases. Conclusion: The accuracy of prenatal diagnosis in a tertiary Fetal Medicine Unit is very high, which is an important standard, clinicians and patients should expect. The missed diagnosis rate of 0.8% can be explained by present limitations in the diagnosis of cleft palate, esophageal and anal atresia, and other dysmorphic features, which are notoriously difficult to diagnose prenatally. This limitation in prenatal diagnosis should be explained to parents.

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