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

353 Citations (Scopus)

Abstract

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
Volume63
Issue number4
DOIs
Publication statusPublished - Jun 1983

Fingerprint

Chorionic Villi
First Pregnancy Trimester
Chromosomes
Chorionic Villi Sampling
Metabolic Diseases
Trophoblasts
Enzymes
Metaphase
Karyotype
Cell Culture Techniques
Mothers
Hormones
Growth

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy. / Simoni, G.; Brambati, B.; Danesino, C.; Rossella, F.; Terzoli, G. L.; Ferrari, M.; Fraccaro, M.

In: Human Genetics, Vol. 63, No. 4, 06.1983, p. 349-357.

Research output: Contribution to journalArticle

Simoni, G. ; Brambati, B. ; Danesino, C. ; Rossella, F. ; Terzoli, G. L. ; Ferrari, M. ; Fraccaro, M. / Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy. In: Human Genetics. 1983 ; Vol. 63, No. 4. pp. 349-357.
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