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OBJECTIVE In this pilot study, we tested the feasibility of cardiac structures reconstruction from histological sections in 12-13 weeks normal fetuses. Conventional autopsy is hampered at this gestational age because of the small size of the heart anatomical structures, while alternative non-invasive methods for pathology examination of the fetus are expensive, rarely available and lack accuracy data regarding the confirmation of first trimester heart defects suspected by early prenatal ultrasound (US) scans. MATERIALS AND METHODS Normal hearts from fetuses aged 12-13 gestational weeks (GW) were harvested for histological preparation, virtual reconstruction, and cardiac structures analysis. The normalcy of heart structures was confirmed before pregnancy termination, using a detailed US scan protocol. The fetal heart was routinely processed for formalin fixation and paraffin embedding (FFPE) and 10 μm seriate sections have been cut until finishing the specimen. All sections have been scanned and a three-dimensional (3D) reconstruction of the whole organ has been rendered, based on computer-aided manual tracing. Using the 3D navigation software, the main cardiac structures were searched for a proper and confident visualization. RESULTS Five cases were investigated. Visualization of the normal heart cavities, including atrioventricular septum was very good in all fetuses. The entire course of right and left ventricle outflow tracts was confidently confirmed, along the branching pattern of aorta and pulmonary artery trunk. Regarding the veno-atrial connections, it was easy to identify the entrance of the inferior and superior caval veins into the right atrium, but a detailed review of the histological sections was necessary for the visualization of the left atrium venous openings. The inherent morphological deformation following heart block sectioning resulted in a lower resolution or quality of the "reconstructed" planes, but these distortions did not represent a significant impediment in any of the cases. The resources involved ordinary histology and information technology (IT) equipment. To further decrease the time involved by the protocol, many steps may be automated: cutting, coloring, and scanning. CONCLUSIONS The results indicate that this method can be implemented to routine clinical practice. The use of 3D reconstruction of fetal heart histological sections in first trimester may serve as an important audit to confirm the normalcy of heart structures. Also, the histological and postprocessed information is retained, and this volume can be stored, reanalyzed, or sent online for a second opinion. The method involves relatively undemanding resources, i.e., hardware, software, competences, and time. The procedure could also benefit from refinements used in other imaging techniques to limit human-computer interactions, such as sections distortion.

Distal trisomy or duplication of 15q is a very rare chromosomal disorder; most of the previously reported cases were derived from unbalanced translocations involving chromosome 15 and another chromosome, whereas other mechanisms (e.g. duplication) have rarely been reported. We herein report a very rare prenatal case of a partial 15q trisomy, a 42.64-Mb duplication of 15q22.2-q26.3, arising from a maternal pericentric inversion of chromosome 15 (p11q22) that was not the result of an unbalanced translocation or duplication, and was not associated with concomitant partial monosomy. Fetal ultrasound revealed isolated thickened nuchal translucency at 12 weeks and multiple abnormalities in the second trimester, including early growth restriction, unilateral ventriculomegaly, narrow cavum septi pellucidi with hypoplasia of the corpus callosum, unilateral postaxial polydactyly, clenched hands and clubfoot with clawing of the toes, and a particular general dysplastic and hypotrophic aspect of the heart. The distinctive aspects of the present case may help to refine the phenotype associated with distal duplication 15q. To the best of our knowledge, this is the first report of a prenatal diagnosis with a 15q22.2-q26.3 duplication that did not result from an unbalanced translocation and did not have a concomitant monosomic component.

Paracetamol (N-acetyl- para-aminophenol) also known as acetaminophen is a chemical compound used in medical practice for analgesic and antipyretic effects. The mechanism of action is related to the cyclooxygenase (COX) activity, which is not full inhibit as for nonsteroidal anti-inflammatory. Paracetamol selectively inhibits COX activities in the brain, indirectly by reducing COX, which must be oxidized in order to function. In addition to analgesic and antipyretic effects, modulating the prostaglandin synthesis by selective inhibition of COX, a vascular modulator effect was described recently on the closure of the patent ductus arteriosus (PDA). This effect has been described in premature newborns, perhaps by decreasing the prostaglandin production. We present the case of a neonate, 39 weeks gestational age, normal birth weight who presented in the 10 th day of life with a cardiac murmur. Echocardiography evidenced a hemodynamically significant PDA, left ventricular enlargement, severe mitral regurgitation, patent foramen ovale and pulmonary hypertension. Although she was a 10-day- old full-term neonate paracetamol administration was attempted. Paracetamol was administered orally in the therapeutic dose of 15 mg/kg/dose, three times a day for three days. The effect was significant by reducing the diameter of the arterial duct (~50% of initial diameter), reducing the size of the left cardiac chambers, reducing the degree of mitral regurgitation from severe to mild, and disappearance of pulmonary hypertension. In conclusion, paracetamol use can change prognosis through the vaso-modulator on the PDA, at the age of 10 days, on a full-term neonate with a normal birth weight. This effect may also be present in full-term newborns and not only in preterm. Even if the PDA was not closed after three days, the hemodynamic impact disappeared and the child could avoid surgical ligation.