Noninvasive Prenatal Diagnosis of Hypohidrotic Ectodermal Dysplasia by Tooth Germ Sonography

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

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