title: Novel fetal and maternal sonographic findings in confirmed cases of Beckwith-Wiedemann syndrome.
abstract: OBJECTIVE
  The objective of the study was to examine the prenatal anomalies in fetuses with Beckwith-Wiedemann syndrome (BWS).
  
  
  METHODS
  The study included a retrospective assessment of 12 pregnancies that were seen at three tertiary referral centres (Universities of Tübingen, Bonn, and Cologne/Germany). The genetic mutation, the results of the second trimester ultrasound examination, and the outcome of the pregnancies are shown. Biometric data were transformed into z-values.
  
  
  RESULTS
  Median gestational age at the time of examination was 22.6 (range 19.0-29.7) weeks of gestation. In all cases, the head circumference (HC) and the femur length (FL) were within the normal range, but the HC-FL ratio was above the 95th centile in 75% of the cases. An exomphalos, macroglossia, and visceromegaly were observed in 67%, 50%, and 83% of the cases, and in 58% and 83%, there were polyhydramnios and placentamegaly respectively. The fetal pancreas was identified in three quarters of the cases. A third of the women had large, overstimulation-like ovaries, although each pregnancy was conceived naturally. In four cases, beta-human chorionic gonadotropin (hCG) levels were measured and mean hCG levels were 498 106 IU/L.
  
  
  CONCLUSIONS
  Besides exomphalos, BWS should be considered if there is macroglossia, a distinct growth pattern, pancreatic hyperplasia, placentamegaly, and substantially increased levels of beta-hCG. © 2015 John Wiley & Sons, Ltd.
authors: Department of Obstetrics and Gynaecology, University of Tübingen, Tübingen, Germany.
authors: Karl Oliver
authors: KO
authors: Kagan
authors: Christoph
authors: C
authors: Berg
authors: Andreas
authors: A
authors: Dufke
authors: Annegret
authors: A
authors: Geipel
authors: Markus
authors: M
authors: Hoopmann
authors: Harald
authors: H
authors: Abele
mesh_terms: D000328:Adult; D001506:Beckwith-Wiedemann Syndrome / Q000150:complications / Q000000981:diagnostic imaging* / Q000235:genetics; D005260:Female; D005333:Fetus; D005858:Germany; D006801:Humans; D009154:Mutation; D011247:Pregnancy; D011248:Pregnancy Complications / Q000453:epidemiology / Q000209:etiology*; D011256:Pregnancy Outcome; D011262:Pregnancy Trimester, Second; D012189:Retrospective Studies; D016216:Ultrasonography, Prenatal / Q000379:methods*