Rare cell analysis using sample splitting and DNA tags

The present invention provides systems, apparatuses, and methods to detect the presence of fetal cells when mixed with a population of maternal cells in a sample and to test fetal abnormalities, e.g. aneuploidy. The present invention involves labeling regions of genomic DNA in each cell in said mixe...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: The General Hospital Corporation, GPB Scientific, LLC, Verinata Health, Inc
Format: Patent
Sprache:eng
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Beschreibung
Zusammenfassung:The present invention provides systems, apparatuses, and methods to detect the presence of fetal cells when mixed with a population of maternal cells in a sample and to test fetal abnormalities, e.g. aneuploidy. The present invention involves labeling regions of genomic DNA in each cell in said mixed sample with different labels wherein each label is specific to each cell and quantifying the labeled regions of genomic DNA from each cell in the mixed sample. More particularly the invention involves quantifying labeled DNA polymorphisms from each cell in the mixed sample.