Dilemma after termination of pregnancy due to urogenital fetal anomalies: Discrepancy between prenatal ultrasonographic diagnosis and autopsy

Abstract

Objective To evaluate the agreement and disagreement between prenatal ultrasound and fetal autopsy findings in pregnancy terminations due to urogenital anomalies. Methods Of 453 pregnancy terminations performed due to fetal anomalies, 82 cases with urogenital anomalies on either prenatal ultrasound or fetal autopsy were included in this retrospective study. The discrepancy between prenatal ultrasound and fetal autopsy findings on urogenital anomaly findings was evaluated. Results Complete agreement between prenatal ultrasound and fetal autopsy findings was noted in 33 (40.2%) cases (particularly for megacystis, bilateral renal agenesis, and infantile polycystic kidney), whereas partial agreement (anal atresia and horseshoe kidney as additional minor findings) and altered diagnosis were noted in 12 (14.6%) and 8 (9.8%) cases, respectively. Disagreement was noted in 29 (35.4%) cases including anomaly only on autopsy in 20 (24.3%) cases (renal agenesis, horseshoe kidney and multicystic dysplastic kidney in particular) and anomaly only on ultrasound in 9 (10.9%) cases. Conclusions Accordingly, our findings indicate fetal autopsy to be a method of vital importance in complementing prenatal diagnosis; it may add valuable information that may improve future pregnancy management and counseling of parents, and hence prenatal ultrasound and fetal autopsy should be regarded as complementary techniques.

Clinical Course and Outcome of Prenatally Detected 22q11.2 Deletion Syndrome—A Retrospective Analysis

“…The majority of craniofacial anomalies were only diagnosed via autopsy, which conforms with the findings of Besseau-Ayasse J. et al, who found a similar rate of 72.9% of additional diagnostic information related to facial defects [14]. A systematic review published by Rossi C. and Prefumo F. analyzed over 3500 fetuses undergoing autopsy and found that 22.5% of the post mortem examinations revealed additional information on fetal anomalies formerly missed in the US, which supports the recommendation that autopsy should be performed routinely, especially after TOP [30][31][32][33]. In our cohort, an autopsy rate of 100% was achieved, as postmortem examination after TOP is required by law in Austria.…”