Back to results
US 8,476,013 B2Granted
Processes and compositions for methylation-based acid enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses
AssigneeSequenom, Inc.
InventorsMathias Ehrich, Anders Olof Herman Nygren
Life of this patent
Estimating the term…
Abstract
Provided are compositions and processes that utilize genomic regions differentially methylated between a mother and her fetus to separate, isolate or enrich fetal nucleic acid from a maternal sample. The compositions and processes described herein are useful for non-invasive prenatal diagnostics, including the detection of chromosomal aneuplodies.
Claims20
A method for determining the presence or absence of a fetal aneuploidy comprising:
- a) digesting nucleic acid from a pregnant female, which nucleic acid comprises fetal nucleic acid and maternal nucleic acid, with a methylation sensitive restriction enzyme that specifically digests non-methylated maternal nucleic acid at a plurality of loci, wherein the plurality of loci comprises the locus of SEQ ID NO:38, thereby enriching the fetal nucleic acid;
- b) determining the amount of fetal nucleic acid from a target chromosome;
- c) determining the amount of fetal nucleic acid from a reference chromosome and;
- d) comparing the amount of fetal nucleic acid determined in step (b) to the amount of fetal nucleic acid determined in step (c), whereby a statistically significant difference between the amount of fetal nucleic acid determined in step (b) and the amount of fetal nucleic acid determined in step (c) determines the presence of a fetal aneuploidy.
1 more element
Dependencies are inferred from the claim text.