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Ultraschall Med 2015; 36(04): 381-385
DOI: 10.1055/s-0034-1384933
Original Article
© Georg Thieme Verlag KG Stuttgart · New York

Noninvasive Prenatal Diagnosis of Hypohidrotic Ectodermal Dysplasia by Tooth Germ Sonography

Nicht-invasive vorgeburtliche Diagnose der hypohidrotischen ektodermalen Dysplasie durch sonografische Darstellung der Zahnanlagen
S. Wünsche
1   Department of Pediatrics, University Hospital Erlangen, Germany
,
J. Jüngert
1   Department of Pediatrics, University Hospital Erlangen, Germany
,
F. Faschingbauer
2   Department of Obstetrics & Gynecology, University Hospital Erlangen, Germany
,
H. Mommsen
3   Obstetrics & Gynecology, Krankenhaus Agatharied, Hausham, Germany
,
T. Goecke
4   Department of Obstetrics & Gynecology, University Hospital Aachen, Germany
,
K. Schwanitz
5   Pränatalmedizin, Frauenärztliche Gemeinschaftspraxis, Cottbus, Germany
,
H. Stepan
6   Department of Obstetrics & Gynecology, University Hospital Leipzig, Germany
,
H. Schneider
1   Department of Pediatrics, University Hospital Erlangen, Germany
› Author Affiliations
Further Information

Publication History

28 November 2013

02 July 2014

Publication Date:
20 August 2014 (online)

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Abstract

Purpose: 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.

Subjects and 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.

Conclusion: 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.

Zusammenfassung

Studienzweck: Die hypohidrotische ektodermale Dysplasie, eine potentiell lebensbedrohliche Erbkrankheit, führt bereits in utero zu charakteristischen Befunden wie Oligodontie und Unterkieferhypoplasie. Da sowohl die Behandlungsmöglichkeiten als auch die Prognose vom Zeitpunkt der Diagnosestellung abhängen, wurde eine Früherkennung im Rahmen pränatalsonografischer Routineuntersuchungen angestrebt.

Probanden und Methoden: Die Feten von 9 schwangeren Frauen (eine Drillings- und 8 Einlingsschwangerschaften) mit familiär bekannter hypohidrotischer ektodermaler Dysplasie wurden zwischen der 20. und 24. Schwangerschaftswoche sonografisch untersucht.

Ergebnisse: Bei 4 männlichen und 2 weiblichen Feten war eine deutlich verminderte Zahl an Zahnanlagen nachweisbar, während 5 Feten die normale Anzahl aufwiesen. 3D-Bildgebung offenbarte eine Unterkieferhypoplasie bei 5 der 6 Feten mit Oligodontie. Molekulargenetische und/oder klinische Befunde nach der Geburt bestätigten in allen Fällen die pränatalsonografische Diagnose.

Schlussfolgerung: Bei familiär bekannter hypohidrotischer ektodermaler Dysplasie ist durch Ultraschalluntersuchung im zweiten Schwangerschaftstrimenon eine nichtinvasive vorgeburtliche Diagnosestellung möglich. Die Früherkennung dieser Krankheit kann zur Vermeidung gefährlicher Hyperthermieepisoden im Säuglingsalter beitragen und rechtzeitige therapeutische Interventionen ermöglichen.

Key words

mouth - ultrasound 2 D - dysplasias - fetus - genetic defects
 

  • References

  • 1 Reed WB, Lopez DA, Landing B. Clinical spectrum of anhidrotic ectodermal dysplasia. Arch Dermatol 1970; 102: 134-143
    CrossrefPubMedGoogle Scholar
  • 2 Clarke A, Phillips DI, Brown R et al. Clinical aspects of X-linked hypohidrotic ectodermal dysplasia. Arch Dis Child 1987; 62: 989-996
    CrossrefPubMedGoogle Scholar
  • 3 Salisbury DM, Stothers JK. Hypohidrotic ectodermal dysplasia and sudden infant death. Lancet 1981; 1: 153-154
    PubMedGoogle Scholar
  • 4 Blüschke G, Nüsken KD, Schneider H. Prevalence and prevention of severe complications of hypohidrotic ectodermal dysplasia in infancy. Early Hum Dev 2010; 86: 397-399
    CrossrefPubMedGoogle Scholar
  • 5 Schneider H, Hammersen J, Preisler-Adams S et al. Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia. J Med Genet 2011; 48: 426-432
    CrossrefPubMedGoogle Scholar
  • 6 Kere J, Srivastava AK et al. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in novel transmembrane protein. Nat Genet 1996; 13: 409-416
    CrossrefPubMedGoogle Scholar
  • 7 Gaide O, Schneider P. Permanent correction of an inherited ectodermal dysplasia with recombinant EDA. Nat Med 2003; 9: 614-618
    CrossrefPubMedGoogle Scholar
  • 8 Casal ML, Lewis JR, Mauldin EA et al. Significant correction of disease after postnatal administration of recombinant ectodysplasin A in canine X-linked ectodermal dysplasia. Am J Hum Genet 2007; 81: 1050-1056
    CrossrefPubMedGoogle Scholar
  • 9 Mauldin EA, Gaide O, Schneider P et al. Neonatal treatment with recombinant ectodysplasin prevents respiratory disease in dogs with X-linked ectodermal dysplasia. Am J Med Genet A 2009; 149: 2045-2049
    PubMedGoogle Scholar
  • 10 Ulm MR, Ulm C, Reckendorffer H et al. Ultrasound diagnosis of fetal tooth anlagen and their histologic correlates. Ultraschall in Med 1995; 16: 18-21
    Article in Thieme ConnectPubMedGoogle Scholar
  • 11 Ulm MR, Kratochwil A, Ulm B et al. Three-dimensional ultrasound evaluation of fetal tooth germs. Ultrasound Obstet Gynecol 1998; 12: 240-243
    CrossrefPubMedGoogle Scholar
  • 12 Sepulveda W, Sandoval R, Carstens E et al. Hypohidrotic ectodermal dysplasia: prenatal diagnosis by three-dimensional ultrasonography. J Ultrasound Med 2003; 22: 731-735
    PubMedGoogle Scholar
  • 13 Kollmann M, Haeusler M, Haas J et al. Procedure-related complications after genetic amniocentesis and chorionic villus sampling. Ultraschall in Med 2013; 34: 345-348
    Article in Thieme ConnectPubMedGoogle Scholar
  • 14 Enzensberger C, Pulvermacher C, Degenhardt J et al. Outcome after second-trimester amniocentesis and first-trimester chorionic villus sampling for prenatal diagnosis in multiple gestations. Ultraschall in Med 2014; 35: 166-172
    Article in Thieme ConnectPubMedGoogle Scholar
  • 15 Dietz J, Kaercher T, Schneider AT et al. Early respiratory and ocular involvement in X-linked hypohidrotic ectodermal dysplasia. Eur J Pediatr 2013; 172: 1023-1031
    CrossrefPubMedGoogle Scholar
  • 16 Hammersen J, Neukam V, Nüsken KD et al. Systematic evaluation of exertional hyperthermia in children with hypohidrotic ectodermal dysplasia: an observational study. Pediatr Res 2011; 70: 297-301
    PubMedGoogle Scholar
  • 17 Thesleff I. Epithelial-mesenchymal signalling regulating tooth morphogenesis. J Cell Sci 2003; 116: 1647-1648
    CrossrefPubMedGoogle Scholar
  • 18 Thesleff I, Vaahtokari A, Partanen AM. Regulation of organogenesis. Common molecular mechanisms regulating the development of teeth and other organs. Int J Dev Biol 1995; 39: 35-50
    PubMedGoogle Scholar
  • 19 Mustonen T, Ilmonen M, Pummila M et al. Ectodysplasin A1 promotes placodal cell fate during early morphogenesis of ectodermal appendages. Development 2004; 131: 4907-4919
    CrossrefPubMedGoogle Scholar
  • 20 Häära O, Harjunmaa E, Lindfors PH et al. Ectodysplasin regulates activator-inhibitor balance in murine tooth development through Fgf20 signaling. Development 2012; 139: 3189-3199
    CrossrefPubMedGoogle Scholar