title: Prenatal findings in children with early postnatal diagnosis of CHARGE syndrome.
abstract: BACKGROUND
  CHARGE syndrome is a multiple congenital anomaly syndrome caused by mutations in CHD7. Diagnostic criteria have been proposed to improve diagnosis in fetuses at clinicopathological survey, but no criteria exist for fetal diagnosis during pregnancy.
  
  
  METHODS
  We collected prenatal findings of 12 children with CHARGE syndrome diagnosed in the first 3 months and a CHD7 mutation. We retrieved data on prenatal ultrasound (US) follow-up, fetal supplementary investigations, and results of postnatal evaluation.
  
  
  RESULTS
  Seven pregnancies were complicated by the identification of isolated or multiple congenital anomalies. CHARGE syndrome was suspected in three fetuses but could not be confirmed despite additional examinations. Retrospectively, several postnatal findings could have been seen if they had been specifically searched. Intrauterine growth restriction, previously proposed as an exclusion criterion, complicated two pregnancies and is thus compatible with the diagnosis.
  
  
  CONCLUSIONS
  Diagnosis of CHARGE syndrome remains difficult during pregnancy. If the diagnosis of CHARGE syndrome is raised in utero, we suggest a careful US examination to identify typical external ears, choanal atresia, or microphthalmia. Fetal brain magnetic resonance imaging can be helpful, but a normal result does not exclude the diagnosis. When CHARGE syndrome is highly suspected, CHD7 molecular analysis must be proposed to confirm the diagnosis. © 2016 John Wiley & Sons, Ltd.
authors.affiliation: Unité de génétique clinique, APHM, CHU Timone-Enfants, Marseille, France.
authors.forename: Tiffany
authors.initials: T
authors.lastname: Busa
authors.affiliation: Département de génétique, CHU Poitiers, Poitiers, France.
authors.forename: Marine
authors.initials: M
authors.lastname: Legendre
authors.affiliation: Centre pluridisciplinaire de diagnostic prénatal, APHM, CHU Timone-Enfants, Marseille, France.
authors.forename: Marie
authors.initials: M
authors.lastname: Bauge
authors.affiliation: Unité d'Echographies Obstétricales, Hôpital Saint-Joseph, Marseille, France.
authors.forename: Edwin
authors.initials: E
authors.lastname: Quarello
authors.affiliation: Centre pluridisciplinaire de diagnostic prénatal, APHM, CHU Timone-Enfants, Marseille, France.
authors.forename: Florence
authors.initials: F
authors.lastname: Bretelle
authors.affiliation: Département de génétique, CHU Poitiers, Poitiers, France.
authors.forename: Frederic
authors.initials: F
authors.lastname: Bilan
authors.affiliation: Unité de génétique clinique, APHM, CHU Timone-Enfants, Marseille, France.|Centre pluridisciplinaire de diagnostic prénatal, APHM, CHU Timone-Enfants, Marseille, France.
authors.forename: Sabine
authors.initials: S
authors.lastname: Sigaudy
authors.affiliation: Département de génétique, CHU Poitiers, Poitiers, France.
authors.forename: Brigitte
authors.initials: B
authors.lastname: Gilbert-Dussardier
authors.affiliation: Unité de génétique clinique, APHM, CHU Timone-Enfants, Marseille, France.|Centre pluridisciplinaire de diagnostic prénatal, APHM, CHU Timone-Enfants, Marseille, France.
authors.forename: Nicole
authors.initials: N
authors.lastname: Philip
mesh_terms: D058747:CHARGE Syndrome / Q000000981:diagnostic imaging*; D002552:Cerebral Ventricles / Q000002:abnormalities / Q000000981:diagnostic imaging; D002971:Cleft Lip / Q000000981:diagnostic imaging; D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging; D004265:DNA Helicases / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D004431:Ear, External / Q000002:abnormalities / Q000000981:diagnostic imaging; D005260:Female; D005317:Fetal Growth Retardation / Q000000981:diagnostic imaging; D006343:Heart Septal Defects / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007668:Kidney; D008297:Male; D010641:Phenotype; D006831:Polyhydramnios / Q000000981:diagnostic imaging; D011247:Pregnancy; D012189:Retrospective Studies; D013950:Thymus Gland / Q000002:abnormalities / Q000000981:diagnostic imaging; D016216:Ultrasonography, Prenatal; D014513:Ureter / Q000002:abnormalities / Q000000981:diagnostic imaging; D014564:Urogenital Abnormalities / Q000000981:diagnostic imaging
chemical_list: D004268:DNA-Binding Proteins; D004265:DNA Helicases; C491434:CHD7 protein, human