The key role of ultrasound examination in the prenatal diagnosis of epidermolysis bullosa with pyloric atresia. (30th May 2013)

• Record Type: Journal Article
• Authors: Maurice, Paul; Eyrolle‐Guignot, Dominique; Dhombres, Ferdinand; Garel, Catherine; Gonzales, Marie; Muller, Françoise; Jouannic, Jean‐Marie
• Is Part Of: Prenatal diagnosis. Volume 33:Number 9(2013:Sep.)
• Page Start: 908
• Page End: 909
• Publication Date: 2013-05-30
• Subjects: Prenatal diagnosis -- Periodicals; Fetus -- Diseases -- Diagnosis -- Periodicals; Electronic journals; 618.32075
• DOI: 10.1002/pd.4137
• Languages: English
• ISSNs: 0197-3851

Abstract

Abstract : What's already known about this topic? In de novo cases of genodermatoses, direct prenatal ultrasound may lead to a strong suspicion in only very few cases, mainly represented by the most severe form of congenital ichthyosis. For others, including epidermolysis bullosa and disorders of pigmentation, fetal skin lesions are not accessible to prenatal ultrasound examination. What does this study add? Certain prenatal diagnosis of de novo cases of epidermolysis bullosa is feasible when all biological and clinical patterns are present without the need for histological confirmation. These cardinal signs are represented by (1) unexplained polyhydramnios with high AFP levels in the amniotic fluid (>20 MoM), (2) the presence of an unusual addition slow band on acetylcholinesterase electrophoresis and (3) the presence of a dilated stomach suggestive of pyloric atresia.