Prenatal diagnosis of chondroectodermal dysplasia with fetoscopy |
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Authors: | The-Hung Bui Lars Marsk Ole Eklöf Klas Theorell |
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Affiliation: | Departments of Clinical Genetics, Obstetrics and Gynecology, and Pediatric Radiology, Karolinska Hospital, Stockholm, Sweden |
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Abstract: | 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. |
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Keywords: | Prenatal diagnosis Ellis-van Creveld syndrome Chondroectodermal dysplasia Fetoscopy Ultrasound |
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