OP28.10: Fetal body lymphatic malformation: ultrasound underestimates the extent of infiltration

Abstract

Methods: This 4 2 year retrospective study is based on 71 fetuses where termination of pregnancy (TOP) was performed because of a fetal malformation and/or chromosomal anomaly. Only fetuses who had undergone both fetal anatomy scanning and autopsy were included. Sensitivity and specificity of ultrasound findings with regard to autopsy findings were calculated. In addition, the fetuses were grouped into four categories depending on the degree of concordance between ultrasound and autopsy. Results: The sensitivity of ultrasound was highest for malformations in the cerebro-spinal and internal organ systems (100% and 91%), while many of the malformations in the cardiovascular and skeletal organ systems were detected only at autopsy (sensitivity of ultrasound 63% and 71%, respectively). The specificity of ultrasound was lowest for the internal and cerebro-spinal organ systems (87% and 89%). There was complete agreement between ultrasound and autopsy findings in 44% of the fetuses and a ‘near match’ in 46%. In 10% of the fetuses, the ultrasound findings were only partially confirmed or not confirmed at all by autopsy. The false positive ultrasound diagnoses were not crucial for the parents decision to terminate the pregnancy. Conclusions: Despite overall good agreement between ultrasound and autopsy findings, the ultrasound examinations were suboptimal for some organ systems. The detection rate was lowest for cardiovascular anomalies. Autopsy often provided important additional information unobserved at ultrasound examination.