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Maternal cell contamination in uncultured amniotic fluid

E J Winsor¹, M P Silver, R Theve

¹Department of Pathology, Toronto Hospital, Canada.

Prenatal Diagnosis

|January 1, 1996

Summary

Maternal cell contamination in uncultured amniotic fluid is common, affecting prenatal testing accuracy. Visual blood presence correlates with contamination, potentially rendering tests uninformative.

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Area of Science:

Genetics
Prenatal Diagnostics
Molecular Biology

Background:

Maternal cell contamination in prenatal samples can lead to inaccurate test results.
Direct DNA analysis and fluorescence in situ hybridization (FISH) for aneuploidy detection are susceptible to this error.
Distinguishing maternal from fetal cells morphologically is not reliable.

Purpose of the Study:

To assess the rate of maternal cell contamination in uncultured amniotic fluid.
To correlate maternal cell presence with visible blood in amniotic fluid samples.
To evaluate the impact of contamination on rapid aneuploidy detection.

Main Methods:

Simultaneous dual-color X and Y FISH was used to detect maternal cells.
500 uncultured amniotic fluid samples from women carrying male fetuses were analyzed.

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Contamination was correlated with visual assessment of blood in the centrifuged cell pellet.

Main Results:

Maternal cell contamination was identified in 21.4% of uncultured amniotic fluid samples.
Cultured fluid showed a significantly lower contamination rate of 0.2%.
Bloody samples (16% slightly, 55% moderately) had high maternal cell percentages (>20%), leading to uninformative results for rapid aneuploidy detection.

Conclusions:

Maternal cell contamination is a significant issue in uncultured amniotic fluid, impacting prenatal genetic testing.
The presence of blood in amniotic fluid is a strong indicator of maternal cell contamination.
Standard protocols for rapid aneuploidy detection may be compromised by contamination in bloody samples.