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The key role of ultrasound examination in the prenatal diagnosis of epidermolysis bullosa with pyloric atresia
Author(s) -
Maurice Paul,
EyrolleGuignot Dominique,
Dhombres Ferdinand,
Garel Catherine,
Gonzales Marie,
Muller Françoise,
Jouannic JeanMarie
Publication year - 2013
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.4137
Subject(s) - epidermolysis bullosa , medicine , polyhydramnios , prenatal diagnosis , dermatology , atresia , pathology , fetus , anatomy , pregnancy , biology , genetics
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.