Maternal cell contamination in uncultured amniotic fluid

The presence of maternal cells in uncultured amniotic fluid may result in error in the interpretation of prenatal tests such as direct DNA analysis and rapid aneuploidy detection by fluorescence in situ hybridization (FISH). Using simultaneous dual colour X and Y FISH, we assessed maternal cell contamination in uncultured amniotic fluids from 500 women carrying male fetuses. The presence of maternal cells was correlated with the amount of blood present in the amniotic fluid as defined by visual examination of the cell pellet after centrifugation. The overall rate of maternal cell contamination in uncultured amniotic fluid as identified using X and Y-specific probes was 21.4 per cent, compared with 0.2 per cent in cultured fluid. Sixteen per cent of slightly bloody and 55 per cent of moderately bloody uncultured fluids had at least 20 per cent maternal cells and were classified as uninformative according to our protocol for rapid aneuploidy detection. Maternal and fetal cells could not be distinguished based on morphological characteristics alone.