Rapid Prenatal Diagnosis and Exclusion of Epidermolysis Bullosa Using Novel Antibody Probes

• Published in: Journal of investigative dermatology Vol. 86; no. 5; pp. 603 - 605
• Main Authors: Heagerty, Adrian H M, Kennedy, Andrew R, Gunner, David B, Eady, Robin A J
• Format: Journal Article
• Language: English
• Published: Danvers, MA Elsevier Inc 01.05.1986; Nature Publishing
• Subjects: Abortion, Therapeutic; Adult; Antibodies; Antibodies, Monoclonal; Biological and medical sciences; Bullous diseases of the skin; Dermatology; Diagnosis, Differential; Epidermis - ultrastructure; Epidermolysis Bullosa - pathology; Extraembryonic Membranes - ultrastructure; Female; Fluorescent Antibody Technique; Humans; Medical sciences; Pregnancy; Prenatal Diagnosis; Bullous dermatosis; Human; Immunohistochemistry; Skin disease; Epidermolysis bullosa; Diagnostic; Monoclonal antibody; Indirect immunofluorescence; Immunological method; Prenatal; Pathology; Transmission electron microscopy; Immunological investigation; Skin
• ISSN: 0022-202X; 1523-1747
• DOI: 10.1111/1523-1747.ep12355579

Prenatal diagnosis of recessive dystrophic epidermolysis bullosa was successfully achieved at 19 weeks' gestation by indirect immunofluorescence examination of a fetal skin biopsy sample using the monoclonal antibody LH 7:2. The abortus displayed marked blistering and the diagnosis was confirmed by transmission electron microscopy (TEM). In 3 further pregnancies at risk for lethal junctional epidermolysis bullosa the diagnosis was excluded using the polyclonal antibody AA3. In all these studies the results were available within 4h of receiving the samples. These new techniques offer a quick and simple alternative to TEM for midtrimester prenatal diagnosis of 2 severe recessive forms of epidermolysis bullosa.