Noninvasive Prenatal Diagnosis of Hypohidrotic Ectodermal Dysplasia by Tooth Germ Sonography

Wuensche S, Juengert J, Faschingbauer F, Mommsen H, Goecke T, Schwanitz K, Stepan H, Schneider H (2015)

Publication Type: Journal article

Publication year: 2015

Journal

Ultraschall in der Medizin Georg Thieme Verlag

Book Volume: 36

Pages Range: 381-5

Journal Issue: 4

DOI: 10.1055/s-0034-1384933

Abstract

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.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.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.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 with CRIS profile

Holm Schneider Professur für Kinderheilkunde/Experimentelle Perinatalmedizin

Involved external institutions

Universitätsklinikum Leipzig DE Germany (DE) Krankenhaus Agatharied DE Germany (DE) Universitätsklinikum Aachen (UKA) DE Germany (DE)

How to cite

APA:

Wuensche, S., Juengert, J., Faschingbauer, F., Mommsen, H., Goecke, T., Schwanitz, K.,... Schneider, H. (2015). Noninvasive Prenatal Diagnosis of Hypohidrotic Ectodermal Dysplasia by Tooth Germ Sonography. Ultraschall in der Medizin, 36(4), 381-5. https://doi.org/10.1055/s-0034-1384933

MLA:

Wuensche, S., et al. "Noninvasive Prenatal Diagnosis of Hypohidrotic Ectodermal Dysplasia by Tooth Germ Sonography." Ultraschall in der Medizin 36.4 (2015): 381-5.

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