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PHENOTIP - A novel web-based tool for improving prenatal diagnostic accuracy of syndromes

About 6,000 dysmorphic syndromes are known to science. The accurate prenatal diagnosis of a syndrome cannot be overemphasized, as it holds great importance both for the family and the caring physician.

The midtrimester ultrasound scan is the primary test to discover anatomical abnormalities in the developing fetus. Enhanced ultrasound resolution and improved technology allow the in utero diagnosis of even subtle findings. Many, if not all syndromes manifest as developmental abnormalities in one or more organs. Currently, there is no free tool that can offer a differential diagnosis based on the sonographic findings in the anatomy scan.
OMIM and Orphanet are free tools that are commonly used for investigation of cases with more than one sonographic marker. Both have many limitations, as they were not designed for ultrasound markers. The London and Possum databases are two non-free databases designed to decipher the differential diagnosis by post-natal findings.

The lack of a useful tool brought us to design Phenotip - a free web-based database of sonographic markers of syndromes. All data in the database is based on previously published data of prenatal sonographic findings. The search in the database is very intuitive, and overcomes some limitations that are inherent to textual databases, such as OMIM. The database is already designed to incorporate also the relative frequency of each marker in each specific syndrome, so in the future the search would have even greater specificity.

Shay Porat
Department of obstetrics and gynecology, Hebrew University-Hadassah medical center Mount Scopus, Jerusalem, Israel

David Baud
Department of obstetrics and gynecology, University Hospital Centre and University of Lausanne, Lausanne, Switzerland

Tim Van Van Mieghem
Department of obstetrics and gynaecology, Division of Woman and Child, University Hospitals Leuven, Leuven, Belgium

More informations on the Phenotip's project in the Orphanet Journal of Rare Diseases