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Original article

Correlation between ultrasound diagnosis and autopsy findings of fetal malformations

Antonella Vimercati Silvana Grasso Marinella Abruzzese Annarosa Chincoli Alessandra de Gennaro Angela Miccolis Gabriella Serio Luigi Selvaggi Fabiana Divina Fascilla Department of Obstetric and Gynecology, University of Bari, Italy Corresponding author: Annarosa Chincoli Department ofObstetric and Gynecology University of Bari Piazza Giulio Cesare, 11 70124 Bari, Italy Mobile: +39 3934272995 E-mail: annarosa.chincoli@virgilio.it

agreement was higher if malformations were diagnosed in a tertiary center. Conclusions: this study shows an overall high degree of agreement between definitive US and autopsy findings in second trimester termination of pregnancy for fetal malformations.Autopsy reveals to be the best tool to diagnose malformations and often showed other abnormalities of clinical importance not detected by US, but sometimes also US could provide additional information about functional anomalies because US is a dynamic examination. Key words: fetal malformations, fetal autopsy, prenatal diagnosis, prenatal ultrasound.

Introduction
In industrialized countries,malformations are the first cause of prenatal death (25-30%) and are related to an elevated morbidity in the neonatal and post-natal period (1). According to current laws about the theme of abortion, detection of fetal malformations at US is often the base for a subsequent voluntary termination of pregnancy. Considering the complex medical, ethical and social issues associated to this decision, thequality of US prenatal diagnosis and its detection rate should be carefully evaluated (2). Today with revolutionary technological improvements the resolution of ultrasound imaging has greatly increased. Together with the experience of operator, the possibility of “seeing the fetus” is presently emphasized and it is possible especially with second trimester (19-22 weeks) ultrasound, which has theaim to evidence structural abnormalities (2). Moreover, the use of high frequency transvaginal scanning sometimes has anticipated ultrasound screening, performed at 11 - 14 gestational weeks (3). A number of studies (4, 2, 5-10) have tried to value the diagnostic accuracy of US examination, with very different results. The ʻsensitivityʼ (i.e., the effectiveness of US in detecting the anomalies) ofUS varies between 14% and 85%, whereas the specificity (i.e., the ability of US in correctly diagnosing each malformation) ranges from 93% to 99%. These differences probably reflect the methodological problems of these studies. Moreover, prenatal US is a technique depending on the skill of examiners (2, 11), the kind of machines used for the examination and the organ system considered (2, 10).Despite the US has reached a very high diagnostic accuracy, it has always  some limitations and  needs further studies. In fact fetal autopsy is obviously regarded as the ʻgold standardʼ for assessing the effectiveness of US (2). The aim of this study was to evaluate the quality of prenatal US examination related to pathology findings and

Summary
Objective: to compare ultrasound (US) and autopsyfindings of fetal malformations in second trimester terminations of pregnancy to evaluate the degree of agreement between US and fetal autopsy. Methods: in this study, all second trimester termination of pregnancy between 2003-2010 were considered. US and autopsy findings were compared and all cases were classified into five categories according to the degree of agreement between US and pathology(A1: full agreement between US and autopsy; A2: autopsy confirmed all US findings but revealed additional anomalies ‘rarely detectable’ prenatally; B: autopsy demonstrated all US findings but revealed additional anomalies ‘detectable’ prenatally; C: US findings were only partially demonstrated at fetal autopsy; D: total disagreement between US and autopsy). Results: 144 cases were selected. In...