In utero Diagnosis of Trichothiodystrophy by Endoscopically-Guided Fetal Eyebrow Biopsy

Abstract

Prenatal diagnosis of TTD is possible in the second trimester through endoscopically-guided eyebrow biopsy. An adequate amount of hair is present in the eyebrows by then, and the disease is already manifest. Analysis of sulfur content of the hair samples is preferred over polarized or electron microscopy, as many classic microscopic findings of TTD may not be present in the early second trimester.