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

    January 2000 in “ Fetal Diagnosis and Therapy ”
    Rubén A. Quintero, Walter J. Morales, Enid Gilbert‐Barness, J.A. Claus, P. W. Bornick, Mary Allen, Jeanne Ackerman, Boris Koussef
    TLDR Prenatal diagnosis of trichothiodystrophy is possible in the second trimester using fetal eyebrow biopsy, with sulfur content analysis being more reliable.
    The study described the prenatal diagnosis of trichothiodystrophy (TTD) using endoscopically-guided fetal eyebrow biopsy in a 32-year-old patient with a history of TTD in previous children. At 17 weeks of gestation, four 1-mm biopsies were taken from the fetal eyebrows, which provided sufficient material for various analyses. The results showed that while polarized microscopy revealed characteristic banding patterns, trichoschisis was not observed. Importantly, the cystine levels in the biopsy were significantly lower than those in a control sample. The study concluded that prenatal diagnosis of TTD is feasible in the second trimester through this method, with sulfur content analysis being more reliable than microscopy due to the absence of some classic microscopic findings in early gestation.
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