Diagnosis of fetal abnormalities using polymorphisms including short tandem repeats

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, i.e. aneuploidy. In addition, the present invention provides methods to determine when there are insuffic...

Ausführliche Beschreibung

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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, i.e. aneuploidy. In addition, the present invention provides methods to determine when there are insufficient fetal cells for a determination and report a non-informative case. The present invention involves quantifying regions of genomic DNA from a mixed sample. More particularly the invention involves quantifying DNA polymorphisms from the mixed sample.