Abstract
Aims: Early prenatal diagnosis of congenital heart disease is feasible. Conventional autopsy is the current gold standard method for post-mortem confirmation. Radiologic techniques alternative to conventional autopsy, such as post-mortem micro-computed tomography, have been proposed in case of limited diagnostic accuracy (i.e., early termination of pregnancy, samples of small dimension or of low weight). The aim of the present study was to define accuracy of micro-computed tomography for post-mortem diagnosis of congenital heart disease in gross anatomy samples.Methods and Results: Fetal heart underwent in-utero prenatal echocardiography and ex-vivo post-mortem evaluation by 9 μm resolution micro-computed tomography and conventional autopsy. For each case, 25 indices of cardiac anatomy were studied by post-mortem micro-computed tomography and conventional autopsy; these were used to compare the two post mortem techniques. Ten samples were examined (gestational age between 12 + 4 and 21 + 6 weeks of gestation). Considering comparable indices, agreement between post-mortem micro-computed tomography and conventional autopsy was of 100% and sensitivity and specificity were of 100%. In “challenging specimens,” post-mortem micro-computed tomography diagnoses more indices as compared to conventional autopsy and 84% of “not-diagnostic” indices at conventional autopsy would be diagnostic at post-mortem micro-computed tomography.Conclusion: Micro-computed tomography can be a valid diagnostic alternative to conventional autopsy for post-mortem evaluation of human fetal heart. In addition, it may prove superior to conventional autopsy particularly in cases coming from early termination of pregnancy or in samples of small dimension or of low weight.
Highlights
Congenital heart disease is the most frequent congenital malformations
Inclusion criteria for study were fetal echocardiography performed at our Center, prenatal diagnosis of congenital heart disease, decision for termination of pregnancy, agreement to participate to study
Post-mortem evaluation consisted in micro-CT followed by conventional autopsy
Summary
Congenital heart disease is the most frequent congenital malformations. Early prenatal diagnosis of congenital heart disease is feasible, thanks to progress in technology, and to better understanding of risk factors for heart malformations [1,2,3,4,5,6]. Conventional autopsy, the current gold standard technique for ex vivo confirmation of congenital heart disease, is an invasive and destructive tool and it can be challenging, up to impracticable, even for expert pathologists, especially in case of specimens low for gestational age, dimension, or weight [7,8,9]. Post-mortem micro-CT of the fetal heart has been tested in ex vivo murine and human cardiac samples, showing feasibility and high concordance rate with conventional autopsy. Given its high resolution power (up to 9 μm), it is feasible even at very early gestational age (7th week) and in samples of small dimension or of low weight, where autopsy can miss diagnosis and cardiac details [11,12,13]. They may become valid alternative to autopsy for ex vivo cardiac examination, even in case where autopsy lacks of diagnostic power
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