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US 2021/0343361 A1Published application
Assay systems for determination of fetal copy number variation
AssigneeAriosa Diagnostics, Inc.
InventorsJohn Stuelpnagel, Ken Song, Arnold Oliphant, Craig Struble
Life of this patent
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Abstract
The present invention provides processes for determining accurate risk probabilities for chromosome dosage abnormalities. Specifically, the invention provides non-invasive evaluation of genomic variations through chromosome-selective sequencing and non-host fraction data analysis of maternal samples.
Claims17
1-20. (canceled)
A computer-implemented process to calculate a risk of a fetal aneuploidy in a maternal serum or plasma sample from a pregnant female, the computer-implemented process comprising the following steps:
- 1) estimating the chromosome dosage of a first fetal chromosome in the maternal sample;
- 2) estimating the chromosome dosage of one or more other fetal chromosomes in the maternal sample;
- 3) providing data on prior risk of aneuploidy for at least the first fetal chromosome based on extrinsic characteristics;
- 4) calculating a value of the likelihood that a first fetal chromosome is aneuploid by comparing the chromosome dosage of the first fetal chromosome to the chromosome dosage of the one or more other fetal chromosomes in view of the prior risk of aneuploidy;
- 5) calculating a value of the likelihood that the first fetal chromosome is disomic by comparing the chromosome dosage of the first fetal chromosome to the chromosome dosage of the one or more other fetal chromosomes in view of the prior risk of aneuploidy;
- and
- 6) calculating a risk of aneuploidy of the first fetal chromosome based on the calculated values of likelihood.
4 more elements
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Dependencies are inferred from the claim text.