Accuratezza nella diagnosi prenatale di malformazione fetale

OBJECTIVE: One major problem in counselling couples with a prenatal diagnosis of a correctable fetal anomaly is the ability to exclude associated malformations that may modify the prognosis. Our aim was to assess the precision of fetal sonography in identifying isolated malformations. METHODS: We retrospectively reviewed the prenatal and postnatal records of our center for cases with a prenatal diagnosis of an isolated fetal anomaly in the period 2002-2007. RESULTS: The antenatal diagnosis of an isolated malformation was made in 284 cases. In one of this cases the anomaly disappeared in utero. Of the remaining cases, the prenatal diagnosis was confirmed after birth in 251 (88.7%). In 8 fetuses (7 with a suspected coarctation of the aorta, 1 with ventricular septal defect) the prenatal diagnosis was not confirmed. In 24 fetuses (8.5%) additional malformations were detected at postnatal or post-mortem. In 16 of these cases the anomalies were mild or would not have changed the prognosis. In 8 cases (2.8%) severe anomalies were present (1 hypoplasia of the corpus callosum with ventriculomegaly, 1 tracheal agenesis, 3 cases with multiple anomalies, 1 Opitz Syndrome, 1 with CHARGE Syndrome, 1 COFS Syndrome). Two of these infants died. CONCLUSIONS: the prenatal diagnosis of an isolated fetal anomaly is highly reliable. However, the probability that additional malformations will go undetected albeit small remains tangible. In our experience, it was 2.8%.

Modelling the infrastructure of the “Śivadharma Database”

A Digital Scholarly Edition is a conceptually and structurally sophisticated entity. Throughout the centuries, diverse methodologies have been employed to reconstruct a text transmitted through one or multiple sources, resulting in various edition types. With the advent of digital technology in philology, these practices have undergone a significant transformation, compelling scholars to reconsider their approach in light of the web. In the digital age, philologists are expected to possess (too) advanced technical skills to prepare interactive and enriched editions, even though, in most cases, only mechanical or documentary editions are published online. The Śivadharma Database is a web Content Management System (CMS) designed to facilitate the preparation, publication, and updating of Digital Scholarly Editions. By providing scholars with a user-friendly CRUD web application to reconstruct and annotate a text, they can prepare their textus with additional components such as apparatus, notes, translations, citations, and parallels. It is possible by leveraging an annotation system based on HTML and graph data structure. This choice is made because the text entity is multidimensional and multifaceted, even if its sequential presentation constrains it. In particular, editions of South Asian texts of the Śivadharma corpus, the case study of this research, contain a series of phenomena that are difficult to manage formally, such as overlapping hierarchies. Hence, it becomes necessary to establish the data structure best suited to represent this complexity. In Śivadharma Database, the textus is an HTML file readily displayable. Textual fragments, annotated via an interface without requiring philologists to write code and saved in the backend, form the atomic unit of multiple relationships organised in a graph database. This approach enables the formal representation of complex and overlapping textual phenomena, allowing for good annotation expressiveness with minimal effort to learn the relevant technologies during the editing workflow.