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

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-supplement...

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Bibliographic Details
Published in:Human genetics 1983-01, Vol.63 (4), p.349-357
Main Authors: Simoni, G, Brambati, B, Danesino, C, Rossella, F, Terzoli, G L, Ferrari, M, Fraccaro, M
Format: Article
Language:English
Subjects:
Catheterization - methods
Chorionic Villi - enzymology
Chorionic Villi - ultrastructure
Culture Techniques
Endoscopy
Female
Fetus - ultrastructure
Humans
Karyotyping - methods
Placenta - ultrastructure
Pregnancy
Pregnancy Trimester, First
Prenatal Diagnosis - methods
Specimen Handling
Suction
Ultrasonography
Uterus
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Summary: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.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00274761