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The Principles of Clinical Cytogenetics - Extra Materials - Springer

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312 Linda Marie Randolph<br />

XX and XY cells), the frequency <strong>of</strong> maternal contamination was estimated at twice this rate, or<br />

0.34%. If in situ hybridization techniques are used on uncultured cells, thus identifying both maternal<br />

and fetal nuclei, the proportion <strong>of</strong> maternal cell contamination (MCC) increases dramatically, being<br />

present at a level <strong>of</strong> 20% in half <strong>of</strong> amniotic fluid specimens. This was found to be strongly associated<br />

with the sampling technique in a survey <strong>of</strong> 36 amniotic fluid specimens (281). Maternal cell contamination<br />

<strong>of</strong> less than 20% was seen in 19 specimens in which the placenta was posterior, and in 2 others,<br />

which were bloody specimens in pregnancies with posterior placentas, more than 20% MCC was<br />

seen. In cases in which the placenta was anterior, less than 20% MCC was seen in two cases and more<br />

than 20% was seen in 13 cases. It was thought that the maternal cells were introduced into the amniotic<br />

fluid specimen as a result <strong>of</strong> placental bleeding during amniocentesis. <strong>The</strong> authors stated that<br />

molecular cytogenetic analysis, or FISH, should not be performed on uncultured amniotic fluid cells<br />

without preselecting fetal cells. <strong>The</strong> preselection could consist <strong>of</strong> simultaneous analysis <strong>of</strong> the morphology<br />

<strong>of</strong> the nuclei and <strong>of</strong> the in situ hybridization findings.<br />

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