Fetal Akinesia Deformation SequenceP resenting with Increased Nuchal Translucency in the First Trimester of Pregnancy

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 e...

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Veröffentlicht in:Fetal diagnosis and therapy 2004-07, Vol.19 (4), p.332-335
Hauptverfasser: Makrydimas, George, Sotiriadis, Alexandros, Papapanagiotou, George, Tsopelas, Antonios, Lolis, Dimitrios
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container_end_page 335
container_issue 4
container_start_page 332
container_title Fetal diagnosis and therapy
container_volume 19
creator Makrydimas, George
Sotiriadis, Alexandros
Papapanagiotou, George
Tsopelas, Antonios
Lolis, Dimitrios
description 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.
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title Fetal Akinesia Deformation SequenceP resenting with Increased Nuchal Translucency in the First Trimester of Pregnancy
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