METHODS OF FETAL ABNORMALITY DETECTION

摘要

Methods and kits for selectively enriching non-random polynucleotide sequences are provided. Methods and kits for generating libraries of sequences are provided. Methods of using selectively enriched non-random polynucleotide sequences for detection of fetal aneuploidy are provided.

主权项

1. A method for determining the presence or absence of fetal aneuploidy comprising:
a. selectively enriching non-random polynucleotide sequences of genomic DNA from a cell-free DNA sample; b. sequencing said enriched polynucleotide sequences; c. enumerating sequence reads from said sequencing step; and d. determining the presence or absence of fetal aneuploidy based on said enumerating.