title: [Beckwith-Wiedemann syndrome: What do you search in prenatal diagnosis? About 14 cases].
abstract: OBJECTIVE
  Beckwith-Wiedemann syndrome (BWS) is the most common overgrowth syndrome and has an incidence of 1/13,700. The majority of the cases are diagnosed after birth. Patients with BWS have an increased risk of neonatal hypoglycemia and embryonal tumors development in childhood. We wanted to identify the ultrasound signs that must alert physicians to prepare best perinatal management strategies.
  
  
  METHODS
  We conducted a retrospective study of a population of 14 cases of BWS diagnosed in perinatal period; four of them were detected prenatally by ultrasound. The anomalies signs described in prenatal were analyzed and compared with the clinical features of the postnatal period.
  
  
  RESULTS
  The major features reported were represented by macrosomia for 71.4% with an increase of abdominal circumference, and macroglossia for 78.6%. The minor features were various with 64% of visceromegaly (nephromegaly and/or hepatomegaly), 50% of hydramnios and for 80% of male children a genital anomaly (crytorchidism and/or hypospadias).
  
  
  CONCLUSIONS
  This study identified some prenatal ultrasound signs that should alert the clinician to the possibility of BWS. A genetic conseling, after confirmation by molecular diagnosis, could be proposed in a near future in prenatal, and could improve postnatal management strategies for these affected children at high postnatal risk.
authors.affiliation: Service de gynécologie obstétrique, CHU de Nantes, quai 38, boulevard Jean-Monnet, 44093 Nantes cedex, France. Electronic address: claudine.levaillant@chu-nantes.fr.
authors.forename: C
authors.initials: C
authors.lastname: Le Vaillant
authors.affiliation: Service de génétique, CHU de Nantes, quai 38, boulevard Jean-Monnet, 44093 Nantes cedex, France.
authors.forename: C
authors.initials: C
authors.lastname: Beneteau
authors.affiliation: Service de gynécologie obstétrique, CHU de Nantes, quai 38, boulevard Jean-Monnet, 44093 Nantes cedex, France.
authors.forename: N
authors.initials: N
authors.lastname: Chan-Leconte
authors.affiliation: Service de génétique, CHU de Nantes, quai 38, boulevard Jean-Monnet, 44093 Nantes cedex, France.
authors.forename: A
authors.initials: A
authors.lastname: David
authors.affiliation: Service de gynécologie obstétrique, CHU de Nantes, quai 38, boulevard Jean-Monnet, 44093 Nantes cedex, France.
authors.forename: A-S
authors.initials: AS
authors.lastname: Riteau
mesh_terms: D001506:Beckwith-Wiedemann Syndrome / Q000150:complications / Q000000981:diagnostic imaging*; D003456:Cryptorchidism / Q000000981:diagnostic imaging; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging; D005320:Fetal Macrosomia / Q000000981:diagnostic imaging; D006801:Humans; D007003:Hypoglycemia / Q000209:etiology; D007021:Hypospadias / Q000000981:diagnostic imaging; D007231:Infant, Newborn; D008260:Macroglossia / Q000151:congenital / Q000000981:diagnostic imaging; D008297:Male; D006831:Polyhydramnios; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012189:Retrospective Studies; D016216:Ultrasonography, Prenatal
keywords: Beckwith-Wiedemann syndrome; Diagnostic prénatal; Fetal ultrasound; Hydramnios; Macroglossia; Macroglossie; Macrosomia; Macrosomie; Polyhydramnios; Prenatal diagnosis; Syndrome de Beckwith-Wiedemann; Ultrasons; Visceromegaly; Viscéromégalie