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Mosaic and hypermodal cells in amniotic fluid cell cultures
American Journal of Obstetrics and Gynecology
|February 1, 1980
Summary
Prenatal diagnosis of amniotic fluid revealed frequent chromosomal abnormalities. Most specimens showed hypomodal cells, and some had hypermodal cells, potentially misdiagnosed as mosaicism.
Area of Science:
- Cytogenetics
- Prenatal Diagnosis
- Genetics
Background:
- Amniotic fluid analysis is crucial for prenatal diagnosis.
- Accurate karyotyping is essential for identifying chromosomal abnormalities.
Purpose of the Study:
- To report karyotypic findings from a large series of amniotic fluid specimens.
- To assess the frequency of aneuploidy and mosaicism in prenatal samples.
Main Methods:
- Analysis of 975 consecutive amniotic fluid specimens.
- Karyotyping to determine chromosome constitution.
Main Results:
- Only 32% of specimens had all euploid cells.
- 63% showed hypomodal cells (abnormally low chromosome number); 25% had three or more.
- 3.5% exhibited hypermodal cells (abnormally high chromosome number), often with an extra chromosome 2.
Conclusions:
- A significant proportion of amniotic fluid analyses reveal chromosomal deviations.
- Hypomodal and hypermodal cells can be misinterpreted as mosaicism.
- Careful interpretation is needed, especially with chromosomes linked to syndromes.