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.

Figure 1

A 28 years old primigravida patient was admitted at 29 weeks gestation for short cervix and abdominal pain. Serologies, 1^st trimester screening and anatomy ultrasound at 20 weeks were all normal. On admission, ultrasound showed polyhydramnios, lissencephaly (A, coronal view), flat nasal bridge (B, sagittal 3D-view of the face) and clinodactyly (C, 3D-view of the hands). All images kindly provided by Yvan Vial, Lausanne-CHUV, Switzerland. Using the Phenotip.com database, these markers were suspected for a Miller-Dieker syndrome (D). In the Phenotip website, markers can be searched through a hierarchy tree (top right) or the marker search box (top middle). Each selected marker will appear on the left hand side of the screen under “selected marker” after clicking the green button. They can also be removed by clicking the red button. Differential diagnosis will appear after clicking the “show possible syndromes” button on the left hand side of the screen. Amniodrainage was performed, and CGH array confirmed a micro-deletion of locus p13.3 on chromosome 17 including LIS1gene.