Limb anomalies following chorionic villus sampling: A registry based case- control study

P. Mastroiacovo, L. D. Botto, D. P. Cavalcanti, F. Lalatta, A. Selicorni, A. E. Tozzi, D. Baronciani, A. C. Cigolotti, S. Giordano, F. Petroni, F. Puppin

Research output: Contribution to journalArticlepeer-review


Using data from the Italian Multicentric Birth Defect Registry a case- control study was performed to verify if chorionic villus sampling (CVS) was associated with transverse limb defects (TLD), with or without features of oro-mandibular-limb hypogenesis complex (OMLHC), in the exposed offspring. The results show that the risk of TLD and OMLHC is increased following CVS, and is particularly high for CVS performed early in pregnancy, i.e., under 70 days of gestational age. These results, together with a review of other epidemiologic studies, biological data and clinical reports, strongly suggest a causative role of CVS as a risk factor for TLD and indicate that at this stage CVS before 70 days of gestational age should be discouraged as an option for prenatal diagnosis and that all patients wishing to undergo CVS should be informed about the possible risk of the procedure.

Original languageEnglish
Pages (from-to)856-864
Number of pages9
JournalAmerican Journal of Medical Genetics
Issue number6
Publication statusPublished - 1992


  • Chorionic villus sampling
  • limb defect
  • malformation
  • oro-mandibular-limb hypogenesis complex
  • prenatal diagnosis
  • teratogen

ASJC Scopus subject areas

  • Genetics(clinical)


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