Abstract
Prenatal ultrasound can often reliably distinguish fetal anatomic anomalies, particularly in the hands of an experienced ultrasonographer. Given the large number of existing syndromes and the significant overlap in prenatal findings, antenatal differentiation for syndrome diagnosis is difficult. We constructed a hierarchic tree of 1140 sonographic markers and submarkers, organized per organ system. Subsequently, a database of prenatally diagnosable syndromes was built. An internet-based search engine was then designed to search the syndrome database based on a single or multiple sonographic markers. Future developments will include a database with magnetic resonance imaging findings as well as further refinements in the search engine to allow prioritization based on incidence of syndromes and markers.
| Original language | English |
|---|---|
| Pages (from-to) | 204 |
| Number of pages | 1 |
| Journal | Orphanet Journal of Rare Diseases |
| Volume | 9 |
| DOIs | |
| State | Published - 2014 |
| Externally published | Yes |
Bibliographical note
Funding Information:We thank Dan Porat for his contribution with the technical aspects of the Phenotip database and search algorithm. We thank Sam Vasilevsky, Karine Lepigeon and Françoise Damnon for critical review of the manuscript. David Baud is supported by the “Fondation Leenaards” through the “Bourse pour la relève académique”. Tim Van Mieghem is supported by the Clinical Research Fund (KOF/KOOR) of the University Hospitals Leuven, Leuven, Belgium.