Objective: The role of systematic autopsy in foetal CHD is to identify the morphology of cardiac and possible associated extracardiac malformations (ECM) and the correlation between morphology, suspected clinical etiology and genetics. We evaluated the role of autopsy in 643 foetal CHDs with/without prenatal diagnosis. Method: From January 1990 to December 2010 (Institute of Pathology, Paolo Giaccone -Palermo), 2371 foetal autopsies were performed. The autopsy protocol used was "tomography" for abortions, the "traditional" technique was adopted for stillbirths. Results: In 643 cases CHDs were identified. In 196 cases CHD diagnosis was made only through autopsy, in 447 after a certain (244) or suspect (203) clinical/genetic diagnosis. The etiology of CHD associated to ECM (621) was: chromosomic type (271), syndromic/sequence type (233), association type (117). The etiology of CHD without ECM (22) was never syndromic. Conclusion: "Traditional" and "tomography" autopsy plays a key role in the diagnosis and counselling of CHD, either when it represents the only diagnostic tool (30,48 %) or when it is preceded by a clinical/genetic study. In the latter cases, its value depends on the detection of ECM, useful to "consolidate" a suspect clinical diagnosis (31,57 %) and to "complete" a malformative picture etiologically known thanks to a clinical/genetic analysis (37,9 %). Objective: Deregulation of cell cycle control is a hallmark of cancer. We have examined protein expression and gene amplification of cyclin A in Wilms tumor (WT) and to analyze it in relation to tumor stage, prognostic group and histological type. Method: Real-Time Quantitative PCR was used to detect gene amplification of cyclin A in tumor tissue from 36 patients with WT, while immunohistochemistry was applied to detect protein expression of the same cyclin. Results: Cyclin A gene amplification was found in 4 out of the 36 (11.8 %) cases of WT. Cyclin A protein overexpression was detected in all four cases, but was also found in 84.7 % of cases without detectable gene amplification. So, there was no significant correlation between cyclin A gene amplification and protein overexpression. All cases with amplification of cyclin A were of favorable histological type, intermediate risk group and three out of four cases were low stage WTs. On the other hand, overexpression of cyclin A was found significantly more often in high stage WTs compared to low stage WTs (p=0.04). Conclusion: Cyclin A gene amplification might be associated with the favorable prognosis of WT (low stage, intermediate risk group and non-anaplastic tumors). The gold standard to diagnose is lung biopsy or necropsy. Up to 40 % of cases have mutations or deletions in the gene FOXF1 (cr16q24.1) who plays a crucial role in the development of the lung vasculature. Method: We report a case of a term newborn female affected of ACD/MPV who was diagnosed by a lung biopsy. She died at 38 days of life. Autopsy and molecular diagnosis were also performed Results: In the biopsy and autopsy specimens a decline in the number of capillaries in the alveolar septa and detachment of the epithelial lining was observed. Secondary proximal plexiform arteriopathy, muscularization of arterioles and venous-venular dilatation and proliferation were evident. A pathogenic mutation in the gene FOXF1 (frame shift mutation in the first exon) confirmed our diagnosis. Conclusion: ACD is defined by a decrease in capillaries with alveolar septal thickening and hypertrophy of the middle muscular layer of arterioles. MPV suggests an imbalance of angiogenesis. The FOXF1 mutation helps to prenatal diagnoses of high risk families and to give the diagnosis to patients who fail to perform biopsy or autopsy. Objective: Prognosis of Rhabdomyosarcoma (RMS) has improved significantly over the last 20 years. Overall survival (OS) is>80 % in the majority of patients; even though, children with metastatic tumors have a dismal prognosis with an OS <30 %. Method: We analyzed in 18 cases, the possible correlation of Notch activation with histology, presence of metastasis and outcome. Immunohistochemistry (IHC) was performed for the Notch downstream effectors Hes1 and Hey1. Results: Hes 1 was strong or moderate in 95 % of the cases. Hey1 was positive in 50 %. 3 out of 4 alveolar RMS (aRMS) were positive for Hes1 and 1 was positive for Hey1. Both stains were negative in the fusion-negative aRMS. In embryonal RMS (eRMS), eight out the 9 were Hey1 positive and 14 of the 17 were Hes1 positive. The 2 patients whit metastases had staining for Hes1 and Hey1. 3 patients who died showed Hes1(+). 14 of the 15 patients in remission showed positivity for Hes1 and 7 for Hey1. Conclusion: Hes1 expression was found in the majority of RMS while Hey1 was more eRMS specific. Is no correlation between pathway activation, metastasis or outcome. The blockage of the pathway with specific inhibitors could offer a new therapeutic option for this patients.