title: Noninvasive Prenatal Diagnosis of Hypohidrotic Ectodermal Dysplasia by Tooth Germ Sonography.
abstract: OBJECTIVE
  Hypohidrotic ectodermal dysplasia, a potentially life-threatening heritable disorder, may be recognized already in utero by characteristic features such as oligodontia and mandibular hypoplasia. As therapeutic options and prognosis depend on the time point of diagnosis, early recognition was attempted during routine prenatal ultrasound examinations.
  
  
  METHODS
  Fetuses of nine pregnant women (one triplet and eight singleton pregnancies) with family histories of hypohidrotic ectodermal dysplasia were investigated by sonography between the 20th and 24th week of gestation.
  
  
  RESULTS
  In 4 male and 2 female fetuses reduced amounts of tooth germs were detected, whereas 5 fetal subjects showed the normal amount. Three-dimensional ultrasound evaluation revealed mandibular hypoplasia in 5 of the 6 fetuses with oligodontia. Molecular genetic analysis and/or clinical findings after birth confirmed the prenatal sonographic diagnosis in each subject.
  
  
  CONCLUSIONS
  In subjects with a family history of hypohidrotic ectodermal dysplasia, the diagnosis of this rare condition can be established noninvasively by sonography in the second trimester of pregnancy. Early recognition of the disorder may help to prevent dangerous hyperthermic episodes in infancy and may allow timely therapeutic interventions.
authors.affiliation: Department of Pediatrics, University Hospital Erlangen, Germany.
authors.forename: S
authors.initials: S
authors.lastname: Wünsche
authors.affiliation: Department of Pediatrics, University Hospital Erlangen, Germany.
authors.forename: J
authors.initials: J
authors.lastname: Jüngert
authors.affiliation: Department of Obstetrics & Gynecology, University Hospital Erlangen, Germany.
authors.forename: F
authors.initials: F
authors.lastname: Faschingbauer
authors.affiliation: Obstetrics & Gynecology, Krankenhaus Agatharied, Hausham, Germany.
authors.forename: H
authors.initials: H
authors.lastname: Mommsen
authors.affiliation: Department of Obstetrics & Gynecology, University Hospital Aachen, Germany.
authors.forename: T
authors.initials: T
authors.lastname: Goecke
authors.affiliation: Pränatalmedizin, Frauenärztliche Gemeinschaftspraxis, Cottbus, Germany.
authors.forename: K
authors.initials: K
authors.lastname: Schwanitz
authors.affiliation: Department of Obstetrics & Gynecology, University Hospital Leipzig, Germany.
authors.forename: H
authors.initials: H
authors.lastname: Stepan
authors.affiliation: Department of Pediatrics, University Hospital Erlangen, Germany.
authors.forename: H
authors.initials: H
authors.lastname: Schneider
mesh_terms: D000848:Anodontia / Q000000981:diagnostic imaging / Q000196:embryology; D042241:Early Diagnosis; D053358:Ectodermal Dysplasia 1, Anhidrotic / Q000000981:diagnostic imaging* / Q000235:genetics; D005260:Female; D006801:Humans; D021621:Imaging, Three-Dimensional; D007231:Infant, Newborn; D008334:Mandible / Q000000981:diagnostic imaging / Q000196:embryology; D008844:Micrognathism / Q000000981:diagnostic imaging / Q000196:embryology; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011379:Prognosis; D012680:Sensitivity and Specificity; D014083:Tooth Germ / Q000000981:diagnostic imaging*; D016216:Ultrasonography, Prenatal