Prenatal confirmation of trisomy 12 mosaicism by fetal skin biopsy

R. Cartolano, S. Guerneri, R. Fogliani, A. Galimberti, U. Nicolini

Research output: Contribution to journalArticlepeer-review

Abstract

Trisomy 12 mosaicism diagnosed at 16 weeks' amniocentesis in a 42-year-old woman was not confirmed at 18 weeks' gestational age in amniotic fluid or fetal blood. Fetal skin biopsy performed at the same time did, however, allow the detection of trisomy 12 in 1 of 14 fibroblasts analysed. Fetal skin biopsy can be included within the diagnostic procedures to be performed when a level III mosaicism is found in the amniotic fluid.

Original languageEnglish
Pages (from-to)1057-1059
Number of pages3
JournalPrenatal Diagnosis
Volume13
Issue number11
DOIs
Publication statusPublished - 1993

Keywords

  • Amniocentesis
  • Amniotic fluid mosaicism
  • Fetal skin biopsy
  • Trisomy 12

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynaecology

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