title: Can fetal ultrasound result in prenatal diagnosis of Prader-Willi syndrome?
abstract: OBJECTIVE
  To define fetal ultrasound characteristics triggering an antenatal diagnosis of Prader Willi syndrome (PWS).
  
  
  METHODS
  Retrospective analysis of sonographic characteristics retrieved from obstetric ultrasound records. All children (n=11) had a postnatal genetically confirmed diagnosis of PWS.
  
  
  RESULTS
  All patients (n=11) showed at least one aspecific abnormality on prenatal ultrasound. Ten out of eleven (90.9 %) had decreased fetal movements, 7 (63.6%) presented in breech position, 7 (63.6%) had severe intra-uterine growth restriction (<5th centile) and 4 (36.4%) showed a polyhydramnios. Immobile flexed limbs and clenched hands were seen in one patient (9.1%). Severe growth restriction combined with polyhydramnios favors the diagnosis in 3/11 cases.
  
  
  CONCLUSIONS
  Prenatal sonographic phenotype of PWS includes decreased fetal movements, fetal malpresentation, severe intra-uterine growth restriction and polyhydramnios. These findings are not specific to PWS, but the combination of some of them (especially severe intra-uterine growth restriction and polyhydramnios) can prompt clinicians to perform invasive testing leading to a molecular cytogenomic diagnosis prenatally.
authors.affiliation: Department of Obstetrics and Gynecology, University Hospitals Leuven, Belgium. brecht_g@hotmail.com
authors.forename: B
authors.initials: B
authors.lastname: Geysenbergh
authors.forename: L
authors.initials: L
authors.lastname: De Catte
authors.forename: A
authors.initials: A
authors.lastname: Vogels
mesh_terms: D000328:Adult; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D005865:Gestational Age; D006801:Humans; D011218:Prader-Willi Syndrome / Q000000981:diagnostic imaging*; D011247:Pregnancy; D016216:Ultrasonography, Prenatal