Determination of fetal aneuploidies by massively parallel...

Details Determination of fetal aneuploidies by massively parallel... Determination of fetal aneuploidies by massively parallel...

2011-08-30

2011-08-30

Myers, Carla (Department: 1634)

Chemistry: molecular biology and microbiology

Measuring or testing process involving enzymes or...

Involving nucleic acid

C435S006110, C435S006120, C435S091200, C436S094000

Reexamination Certificate

active

08008018

ABSTRACT:
The present methods are exemplified by a process in which maternal blood containing fetal DNA is diluted to a nominal value of approximately 0.5 genome equivalent of DNA per reaction sample. Digital PCR is then be used to detect aneuploidy, such as the trisomy that causes Down Syndrome. Since aneuploidies do not present a mutational change in sequence, and are merely a change in the number of chromosomes, it has not been possible to detect them in a fetus without resorting to invasive techniques such as amniocentesis or chorionic villi sampling. Digital amplification allows the detection of aneuploidy using massively parallel amplification and detection methods, examining, e.g., 10,000 genome equivalents.

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