title: Prenatal diagnosis of anhidrotic ectodermal dysplasia with unconventional loci abnormalities: a case report.
abstract: Anhidrotic ectodermal dysplasia (EDA) is a relatively rare congenital hereditary disease. Because of a reduced number of sweat glands, patients are unable to perspire and consequently suffer from hyperthermia and infection. This is a potential cause of death in childhood. Domestic prenatal diagnosis methods focus on genetic diagnosis. But for some conditions, because of the uncertain molecular pathology, we need other methods to assist to in prenatal diagnosis. Here, we report one case of a new mutation locus which may be associated with EDA and the prenatal diagnosis of EDA by fetal skin biopsy under fetoscopy in mid pregnancy, combined with a review of the literature.
authors.affiliation: Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing 100191, China.
authors.forename: Lian
authors.initials: L
authors.lastname: Chen
authors.forename: Yang-Yu
authors.initials: YY
authors.lastname: Zhao
authors.forename: Yuan
authors.initials: Y
authors.lastname: Wei
authors.forename: Yan
authors.initials: Y
authors.lastname: Wang
authors.forename: Yan
authors.initials: Y
authors.lastname: Zhang
authors.forename: Yong-Qing
authors.initials: YQ
authors.lastname: Wang
authors.forename: Jian-Ying
authors.initials: JY
authors.lastname: Liu
authors.forename: Yong
authors.initials: Y
authors.lastname: Yang
authors.forename: Yan-Hong
authors.initials: YH
authors.lastname: Tan
mesh_terms: D000328:Adult; D001706:Biopsy; D004476:Ectodermal Dysplasia / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012867:Skin / Q000473:pathology