First-trimester prenatal diagnosis of Roberts syndrome

S. Stioui, O. Privitera, B. Brambati, G. Zuliani, F. Lalatta, G. Simoni

Research output: Contribution to journalArticlepeer-review


We present a case of prenatal detection of premature centromere separation on chorionic villi sampled at 8 weeks' gestation from a woman at risk of recurrence of Roberts syndrome. The same cytogenetic characteristic was confirmed on amniocytes at 14 weeks when ultrasound examination showed morphological anomalies of the fetus. To our knowledge, this is the first report of early prenatal diagnosis of Roberts syndrome.

Original languageEnglish
Pages (from-to)145-149
Number of pages5
JournalPrenatal Diagnosis
Issue number2
Publication statusPublished - 1992

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynaecology


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