[Prenatal diagnosis of hereditary epidermolysis bullosa using ultrasonically guided biopsy of the fetal skin].

Ultrasonically guided fetal skin biopsy was performed in 5 patients who were at risk having a baby affected by epidermolysis bullosa hereditaria. Samples of the fetal skin were taken by means of Tru-cut biopsy needle that was introduced transabdominally into the amniotic cavity under continuous ultrasound control. Samples of the skin were obtained in all cases and were adequate for histopathological analysis. There were no significant clinical complications that may be related to the procedure. Prenatal diagnosis of the disease was made in 2 cases. In both cases pregnancies were interrupted. In 3 cases with normal histologic findings pregnancies resulted in term deliveries of normal babies. The authors suggest that fetal skin biopsy can be successfully performed under sonographic guidance. This diagnostic procedure may be considered the method of choice for prenatal diagnosis of hereditary skin disease.