Is traditional perinatal autopsy needed after detailed fetal ultrasound and post‐mortem MRI?

Abstract

Objective To determine the additional yield from autopsy following prenatal ultrasound and post‐mortem magnetic resonance imaging (PMMR) for structural abnormalities. Method PMMR was performed on consecutive fetuses over a 6‐year period. Prenatal ultrasound and PMMR findings were categorised as concordant, partially concordant or discordant findings. The yield of new and clinically significant information from autopsy was assessed. Diagnostic accuracies for both modalities were calculated, using autopsy as reference standard. Results Our study consisted of 81 fetuses. PMMR and prenatal ultrasound findings were concordant in 44/81 (54.3%), partially concordant in 26/81 (32.1%) and discordant in 11/81 (13.6%) cases. In 19/81 cases (23%), autopsy provided additional information, which appeared clinically significant in 12 cases. In 10 of those 12 cases, there was discordance between PMMR and ultrasound. In only 2 of 44 cases where ultrasound and PMMR were concordant, did autopsy provide clinically significant information. Diagnostic accuracy rates for ultrasound were sensitivity of 76.8% (66.6%, 84.6%), specificity of 92.5% (88.9%, 95.0%). For PMMR the sensitivity was 79.0% (68.9%, 86.5%), specificity 97.9% (95.5%, 99.0%). PMMR had a significantly higher concordance rate with autopsy than ultrasound (89.0 vs 93.8%; P < .001). Conclusion Where PMMR and ultrasound are concordant, there is little additional yield from autopsy.

A pragmatic evidence-based approach to post-mortem perinatal imaging

“…low likelihood of histological abnormality where the organ appeared normal at inspection or post-mortem imaging). Furthermore, where antenatal ultrasound and post-mortem MRI results are concordant, the additional value of an autopsy is low (< 5%) [ 35 ]. Therefore, the greatest benefit for tissue sampling is clearly where there is a structural anomaly for further investigation, and for obtaining samples for ancillary investigations.…”

Ultrasound examination: The key to maximising the benefits of advances in molecular diagnostic technologies

“…However, in this issue we hope to persuade you otherwise, as the contents of this special issue on ultrasound and genetic syndromes demonstrate how expert sonography and other fetal imaging is key to maximising the benefits of the technological advances we are seeing in molecular diagnosis. While largely focused on prenatal imaging, we also show how combined prenatal ultrasound and postnatal MRI examinations may be able to replace traditional post-mortem examination, 6 an approach welcomed by both the public and patients. 7,8 Our first article deals with the central nervous system.…”

Latest developments in post‐mortem foetal imaging

“…When counselling parents with regards to “usefulness of an invasive autopsy,” recent work has shown that when PMMR results were concordant with the prenatal ultrasound results, an invasive autopsy was only of added clinical benefit in 4.5% cases, suggesting little benefit and the potential for avoiding this procedure altogether. Nevertheless, where the findings are discordant or only partially concordant further discussion is warranted and the benefits are less clear cut.…”