Sviluppo del sistema nervoso centrale e genetica

The neural tube defect (DTN) are common congenital anomalies. Their aetiology is complex, with both genetic and environmental factors implicated. About 1-2 per 1000 pregnancies are affected by DTN, both in the USA and in Italy (ISTAT 2007 data). The present study was performed in Sassari, through the analysis of human foetus reached our laboratory from 2001 to 2008. The main aim of this study was to evaluate morphological pathologies in human foetus (126 clinical cases) arriving from spontaneous or therapeutic pregnancy interruptions in order to select foetus affected by DTN. It was also investigated the correlation between DTN and cytogenetic anomalies. Results showed 26 foetus over 126 affected by DTN. Two of these foetus showed cariotype 46,XY,add4(q35) and one showed a chromosome marker. So, we further investigated these foetus by FISH (Fluorescence ibridation in situ) analysis to find genotype/phenotype correlations. It was very hard to correlate our results with other previous studies because of the multifactorial nature of these diseases. During this study, we also created a database containing all data related to the foetus and their parents. In this way, this study could represent the departure point to create a data bank in order to monitor DTN morphological and genetics anomalies in population and to put in effect a prevention plan creating a team of different professional figures.