The presence of maternal cells in uncultured amniotic fluid may result
in error in the interpretation of prenatal tests such as direct DNA a
nalysis and rapid aneuploidy detection by fluorescence in situ hybridi
zation (FISH). Using simultaneous dual colour X and Y FISH, we assesse
d maternal cell contamination in uncultured amniotic fluids from 500 w
omen carrying male fetuses, The presence of maternal cells was correla
ted with the amount of blood present in the amniotic fluid as defined
by visual examination of the cell pellet after centrifugation. The ove
rall rate of maternal cell contamination in uncultured amniotic fluid
as identified using X and Y-specific probes was 21.4 per cent, compare
d with 0.2 per cent in cultured fluid. Sixteen per cent of slightly bl
oody and 55 per cent of moderately bloody uncultured fluids had at lea
st 20 per cent maternal cells and were classified as uninformative acc
ording to our protocol for rapid aneuploidy detection. Maternal and fe
tal cells could not be distinguished based on morphological characteri
stics alone.