Process and composition for enrichment based on methylation of fetal nucleic acid from maternal samples useful for non-invasive prenatal diagnosis

摘要

Compositions and processes are provided that utilize genomic regions that are differentially methylated between a mother and her fetus to separate, isolate, or enrich fetal nucleic acid from a maternal sample. The The compositions and processes described herein are particularly useful for non-invasive prenatal diagnosis, including detection of chromosomal aneuploidy. The techniques herein provide, among other things, human epigenetic biomarkers that are useful for non-invasive detection of fetal genetic traits, including the presence or absence of fetal nucleic acid, the absolute or relative amount of fetal nucleic acid, Examples include, but are not limited to, fetal sex, and fetal chromosomal abnormalities such as aneuploidy.