Prenatal diagnosis of chondroectodermal dysplasia with fetoscopy.
Chondroectodermal dysplasia (Ellis-van Creveld syndrome) has previously been diagnosed prenatally only once, using fetoscopy. We report on two consecutive pregnancies in a woman at risk of having a child with the syndrome during which fetoscopic visualization was performed. Ellis-van Creveld syndrome was diagnosed prenatally in one instance, while it could be excluded in the other one. Non-invasive prenatal diagnosis of the syndrome is discussed.
D000328:Adult; D003937:Diagnosis, Differential; D004613:Ellis-Van Creveld Syndrome / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005332:Fetoscopy / Q000379:methods*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012306:Risk; D014463:Ultrasonography