Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy

G. Simoni, B. Brambati, C. Danesino, F. Rossella, G. L. Terzoli, M. Ferrari, M. Fraccaro

Research output: Contribution to journalArticle


Chorionic villi were obtained by an aspiration technique which proved to be the best of four alternative procedures. We report in detail the series of experiments which led to (1) successful, rapidly growing cell cultures practically free of maternal cell contamination (the use of hormone-supplemented Chang medium greatly increased the growth rate);(2) an efficient direct method to obtain high quality metaphases from the Langhans cells of the cytotrophoblast tissue and with which the fetal karyotype is defined within a few hours of chorionic villi sampling; and (3) successful testing for the activity of eight enzymes directly from the villi samples, thus showing that this material is suitable for a rapid, direct diagnosis of the related metabolic diseases.

Original languageEnglish
Pages (from-to)349-357
Number of pages9
JournalHuman Genetics
Issue number4
Publication statusPublished - Jun 1983


ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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