Title |
Phenotip - a web-based instrument to help diagnosing fetal syndromes antenatally
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Published in |
Orphanet Journal of Rare Diseases, December 2014
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DOI | 10.1186/s13023-014-0204-7 |
Pubmed ID | |
Authors |
Shay Porat, Maud de Rham, Davide Giamboni, Tim Van Mieghem, David Baud |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
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Unknown | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 15 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Master | 3 | 20% |
Student > Postgraduate | 2 | 13% |
Student > Doctoral Student | 1 | 7% |
Student > Bachelor | 1 | 7% |
Other | 1 | 7% |
Other | 4 | 27% |
Unknown | 3 | 20% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 4 | 27% |
Biochemistry, Genetics and Molecular Biology | 2 | 13% |
Nursing and Health Professions | 2 | 13% |
Unspecified | 1 | 7% |
Psychology | 1 | 7% |
Other | 1 | 7% |
Unknown | 4 | 27% |