Prenatal diagnosis of xeroderma pigmentosum

Abstract

Xeroderma pigmentosum (XP) is an autosomal recessively transmitted, intractable photosensitive disorder with deficient post-ultraviolet (UV) DNA repair. Patients with XP are highly predisposed to skin cancers on sun-exposed areas. Approximately 30% of XP patients develop progressive neurological abnormalities, although the cause of these changes is unknown.