Correlation between referral ultrasound with suspected foetal anomalies and autopsy examination in two prenatal diagnosis centres. Impact of the routine use of 3D/4D scan

Objective To compare ultrasound diagnosis with autopsy findings in two tertiary referral foetal medicine centres, only one routinely using 3D and 4D ultrasound, and to compare results between the centres. Methods A retrospective study of 138 cases with a termination of pregnancy for foetal abnormalities after 21 weeks' gestation from January 2004 through May 2006 was carried out. We compared prenatal ultrasound and autopsy findings for each organ, calculating the sensitivity, specificity, positive predictive and negative predictive values, and false-positive and false-negative rates for ultrasound. Results Abnormalities were found most frequently in the brain (48.9%), heart and thorax (34.0%), limbs (31.9%), face (15.9%), and abdomen, urogenital tract and spine (14.5%). Sensitivity between centres did not differ statistically for the brain, spine, limbs and abdomen, but was different for the face (p = 0.005) and heart (p = 0.007). The detection rate was higher for facial malformations at the centre with routine 3D and 4D scans, and better for the heart and thorax at the other centre. Conclusion Diagnostic ultrasound cannot give a complete assessment of foetal anatomy. Autopsy examination is always strongly recommended for accurate genetic counselling. As already reported, 3D and 4D ultrasound may improve ultrasound performance in facial anomalies. Copyright (C) 2008 John Wiley & Sons, Ltd.