title: Phenotip - a web-based instrument to help diagnosing fetal syndromes antenatally.
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.
authors.affiliation: Department of Obstetrics and Gynaecology, Hadassah University Hospital, Mount Scopus campus, Jerusalem, Israel. shay.porat@gmail.com.
authors.forename: Shay
authors.initials: S
authors.lastname: Porat
authors.affiliation: Materno-Fetal and Obstetrics Research Unit, Department of Obstetrics and Gynaecology, University Hospital, Lausanne, Switzerland. maud.de-rham@chuv.ch.
authors.forename: Maud
authors.initials: M
authors.lastname: de Rham
authors.affiliation: TechCare.ch, Geneva, Switzerland. d.giamboni@techcare.ch.
authors.forename: Davide
authors.initials: D
authors.lastname: Giamboni
authors.affiliation: Department of Obstetrics and Gynaecology, Division of Woman and Child, University Hospitals Leuven, Leuven, Belgium. t.vanmieghem@gmail.com.
authors.forename: Tim
authors.initials: T
authors.lastname: Van Mieghem
authors.affiliation: Materno-Fetal and Obstetrics Research Unit, Department of Obstetrics and Gynaecology, University Hospital, Lausanne, Switzerland. david.baud@chuv.ch.
authors.forename: David
authors.initials: D
authors.lastname: Baud
mesh_terms: D016208:Databases, Factual / Q000592:standards* / Q000706:statistics & numerical data; D003937:Diagnosis, Differential; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000453:epidemiology; D006801:Humans; D020407:Internet / Q000592:standards* / Q000706:statistics & numerical data; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods* / Q000592:standards* / Q000706:statistics & numerical data; D013577:Syndrome