Abstract

This article presents a case series of n = 21 models of fetal cardiovascular anatomies obtained from post mortem microfocus computed tomography (micro-CT) data. The case series includes a broad range of diagnoses (e.g., tetralogy of Fallot, hypoplastic left heart syndrome, dextrocardia, double outlet right ventricle, atrio-ventricular septal defect) and cases also had a range of associated extra-cardiac malformations (e.g., VACTERL syndrome, central nervous system anomalies, renal anomalies). All cases were successfully reconstructed from the microfocus computed tomography data, demonstrating the feasibility of the technique and of the protocols, including in-house printing with a desktop 3D printer (Form2, Formlabs). All models were printed in 1:1 scale as well as with the 5-fold magnification, to provide insight into the intra-cardiac structures. Possible uses of the models include education and training.

Highlights

  • Congenital heart defects are the most frequent congenital malformations

  • Post mortem micro-CT followed by conventional autopsy is offered to all patients referred to our Center for fetal echocardiography who decided for termination of pregnancy for either fetal cardiac anomalies or extra-cardiac malformations

  • 18/21 (86%) cases suffered from cardiac anomalies, 15 (83%) of which were complex congenital heart disease (CHD). 13/21 (62%) cases had abnormal karyotype at invasive testing. 10/21 (48%) cases had associated extra-cardiac malformations (VACTERL syndrome, central nervous system anomalies including omphalocele and other anomalies of the posterior cranial fossa, cystic hygroma, cleft lips, renal anomalies including ptosis and polycystic kidneys, skeletal anomalies including anomalies of the arms, legs, vertebral column, and ribcage)

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Summary

Introduction

Congenital heart defects are the most frequent congenital malformations. Confirming the cardiac malformation after termination of pregnancy is essential for medical knowledge and familial counseling. Conventional autopsy is the gold standard technique for post mortem confirmation of congenital heart disease (CHD) but it lacks diagnostic power especially in challenging samples, such as cases of termination of pregnancy and of low dimension/weight [3, 4]. By using X-ray source on contrast-enhanced samples, post mortem microfocus computed tomography (microCT) can reach a spatial resolution of voxel sizes below 1 micron (i.e.,

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