title: Fetal akinesia deformation sequence presenting with increased nuchal translucency in the first trimester of pregnancy.
abstract: Prenatal sonographic diagnosis of fetal akinesia deformation sequence (FADS) is usually achieved during the second and third trimester of pregnancy and relies on the demonstration of contractures of multiple joints, paucity of fetal movements and nuchal edema or generalized hydrops. We present the early diagnosis of FADS in a 13-week fetus presenting with nuchal translucency thickness (NT) of 5.1 mm, bilateral talipes and fixed flexion deformity of the fingers and wrists. We also review cases of this condition diagnosed during the first trimester and discuss the role of increased NT in the early diagnosis of FADS even in cases without previous history of an affected child.
authors.affiliation: The Embryo, Center for Fetal Medicine, Athens, Greece. grmak@otenet.gr
authors.forename: George
authors.initials: G
authors.lastname: Makrydimas
authors.forename: Alexandros
authors.initials: A
authors.lastname: Sotiriadis
authors.forename: George
authors.initials: G
authors.lastname: Papapanagiotou
authors.forename: Antonios
authors.initials: A
authors.lastname: Tsopelas
authors.forename: Dimitrios
authors.initials: D
authors.lastname: Lolis
mesh_terms: D000328:Adult; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging* / Q000235:genetics*; D006801:Humans; D048208:Nuchal Translucency Measurement / Q000379:methods*; D011247:Pregnancy; D011261:Pregnancy Trimester, First / Q000235:genetics*