Phenotip - a web-based instrument to help diagnosing fetal syndromes antenatally.

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Version: author
Serval ID
serval:BIB_D4658B563392
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Phenotip - a web-based instrument to help diagnosing fetal syndromes antenatally.
Journal
Orphanet Journal of Rare Diseases
Author(s)
Porat S., de Rham M., Giamboni D., Van Mieghem T., Baud D.
ISSN
1750-1172 (Electronic)
ISSN-L
1750-1172
Publication state
Published
Issued date
2014
Peer-reviewed
Oui
Volume
9
Number
1
Pages
204
Language
english
Notes
Publication types: ARTICLE
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.
Pubmed
Web of science
Open Access
Yes
Create date
29/01/2015 20:23
Last modification date
20/08/2019 15:54
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