Transverse limb reduction defects after chorion villus sampling: A retrospective cohort study

P. Mastroiacovo, A. E. Tozzi, S. Agosti, G. Bocchino, L. Bovicelli, L. Dalpra, L. D L Carbone, M. Lituania, A. Luttichau, F. Mantegazza, G. Nocera, A. Pachi, U. Passamonti, G. Piombo, A. F. Vasta

Research output: Contribution to journalArticle


A retrospective cohort study was performed in five Italian obstetrical centres from 1984 to 1991 in order to verify the association between chorionic villus sampling (CVS) and transverse limb reduction defects (TLRDs). TLRD rates by period of gestation at CVS were calculated, and the study's results were compared with data from the general population. Of the 3,430 pregnancies for which CVS was performed, 2,759 had a known outcome. The overall rate for TLRDs was 1 in 1,143 CVS pregnancies, four times higher than that of the general population in Italy (1 in 4,458). The rate of TLRDs was 2.9/1000 for CVS performed at 9 weeks' gestation and 1.0/1000 for CVS at 10 weeks' gestation. A scalp defect was detected in a pregnancy in which CVS was performed at 10 weeks. A high proportion of pregnancies lost to follow-up and the poor quality of the data may have affected the results. Nevertheless, our results suggest an association between CVS carried out at less than 10 weeks' gestation and TLRDs which is consistent with the findings of other studies. CVS should not be prepared at less than 10 weeks' gestation until additional evidence is obtained.

Original languageEnglish
Pages (from-to)1051-1056
Number of pages6
JournalPrenatal Diagnosis
Issue number11
Publication statusPublished - 1993



  • Birth defects
  • CVS
  • Retrospective cohort
  • Transverse limb reduction defects

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynaecology

Cite this

Mastroiacovo, P., Tozzi, A. E., Agosti, S., Bocchino, G., Bovicelli, L., Dalpra, L., Carbone, L. D. L., Lituania, M., Luttichau, A., Mantegazza, F., Nocera, G., Pachi, A., Passamonti, U., Piombo, G., & Vasta, A. F. (1993). Transverse limb reduction defects after chorion villus sampling: A retrospective cohort study. Prenatal Diagnosis, 13(11), 1051-1056.