Prenatal diagnosis of inherited skin diseases

Abstract

Significant advances in the prenatal diagnosis of hereditary skin disorders, including severe forms of epidermolysis bullosa (EB) and tyrosinase-negative oculocutaneous albinism (OCA1A), have been reviewed. Fetal skin biopsy during the second trimester of pregnancy has been utilized successfully for the prenatal diagnosis of EB and OCA1A. Recently, elucidation of the specific gene mutation in affected individuals allowed us to perform DNA-based prenatal diagnosis during the first trimester of pregnancy. Over the last 5 years, we have established several new strategies for prenatal diagnosis for EB and OCA1A at the Special Clinic for Inherited Skin Disorders at Keio University Hospital.