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First trimester diagnosis of sirenomelia
Authors:J Van Keirsbilck  M Cannie  C Robrechts  T de Ravel  S Dymarkowski  T Van den Bosch  D Van Schoubroeck
Institution:1. Department of Obstetrics and Gynaecology, A.Z. Heilig Hart, Tienen, Belgium;2. Department of Radiology, U.Z. Gasthuisberg, Leuven, Belgium;3. Department of Pathology, A.Z. Heilig Hart, Tienen, Belgium;4. Department of Human Genetics, U.Z. Gasthuisberg, Leuven, Belgium;5. Department of Obstetrics and Gynaecology, A.Z. Heilig Hart, Tienen, Belgium

Department of Obstetrics and Gynaecology, U.Z. Gasthuisberg, Leuven, Belgium;6. Department of Obstetrics and Gynaecology, U.Z. Gasthuisberg, Leuven, Belgium

Abstract:We present a case of sirenomelia diagnosed on a first trimester ultrasound at 10 weeks' gestation and confirmed on 3D-ultrasound and MRI. The pregnancy was terminated at 15 gestational weeks and the post-mortem examination, including RX and microscopy, is presented. The sirenomelia sequence is a rare and lethal anomaly characterized by fusion, rotation, hypotrophy or atrophy of the lower limbs and severe urogenital abnormalities leading to oligohydramnios in the second half of pregnancy. Our case illustrates that the diagnosis of sirenomelia can be reliably made in the first trimester. Copyright © 2006 John Wiley & Sons, Ltd.
Keywords:sirenomelia  ultrasonography  first trimester screening  magnetic resonance imaging  prenatal diagnosis  vitelline artery
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