Cytogenetics of Chorionic Villi Sampling: Technical Developments and Diagnostic Applications

  • G. Simoni
  • M. Fraccaro
  • G. Terzoli
  • L. Romitti
  • F. Rossella
  • G. Gimelli
  • C. Cuoco
  • L. Dalprá
  • G. F. Nocera
  • M. G. Tibiletti
Conference paper

Abstract

Trophoblast sampling during the first trimester of pregnancy has provided a new kind of fetal material for the prenatal diagnosis of genetic diseases. Studies on chorionic villi sampling (CVS) and trophoblastic cell culture were reported in the early 1970s by Kullander and Sandhal (1973) and by Hahnemann (1974) (Table 1), but while chorionic villi proved to be obtainable, throphoblastic cells showed low growth potential under culture conditions, with the result that cultures of nearly half the samples failed. It followed that cytogenetic analysis was limited to fetal sex prediction by X and Y chromatin assays. In addition, the identification and selection of pure fetal material was not easy, and it was soon realized that maternal cell contamination of trophoblast cultures was a serious problem that occurs much more frequently than with amniotic fluid cell cultures. Because of these technical difficulties, investigations were confined to experimental materials, and CVS was not used for the diagnosis of chromosomal abnormalities until 1983 (Brambati and Simoni 1983)

Keywords

Filtration Citrate Trypsin Progesterone Dium 

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Copyright information

© Springer-Verlag Berlin Heidelberg 1985

Authors and Affiliations

  • G. Simoni
    • 1
  • M. Fraccaro
    • 2
  • G. Terzoli
    • 1
  • L. Romitti
    • 1
  • F. Rossella
    • 1
  • G. Gimelli
    • 3
  • C. Cuoco
    • 3
  • L. Dalprá
    • 4
  • G. F. Nocera
    • 4
  • M. G. Tibiletti
    • 4
  1. 1.Laboratorio di Citogenetica, 1 Clinica Ostetrica e GinecologicaUniversità di MilanoMilanoItaly
  2. 2.Istituto di Biologia Generale e Genetica MedicaUniversità di PaviaPaviaItaly
  3. 3.II Laboratòrio, Servizio di CitogeneticaIstituto C. GasliniGenovaItaly
  4. 4.Laboratorio di Citogenetica3 Clinica Ostetrica e GinecologicaMilanoItaly

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