IP Library › Patent Application 19414578
Patent Application
App. No. 19/414,578

SEQUENCING METHODS AND COMPOSITIONS FOR PRENATAL DIAGNOSES

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Quick Facts
Patent No.
US None
App. No.
19/414,578
Abstract

The invention provides methods for determining aneuploidy and/or fetal fraction in maternal samples comprising fetal and maternal ctDNA by massively parallel sequencing. The method comprises a novel protocol for preparing sequencing libraries that unexpectedly improves the quality of library DNA while expediting the process of analysis of samples for prenatal diagnoses.

Claims (6)

1 . A method for determining a fetal chromosomal aneuploidy in a maternal sample comprising a mixture of fetal and maternal nucleic acids molecules, said method comprising:

(a) preparing a sequencing library from said mixture of fetal and maternal nucleic acid molecules; wherein preparing said library comprises the consecutive steps of end-repairing, dA-tailing and adaptor ligating said nucleic acids;

(b) sequencing at least a portion of said nucleic acid molecules, thereby obtaining sequence information for a plurality of fetal and maternal nucleic acid molecules of a maternal sample;

(c) using the sequence information to obtain a chromosome dose for an aneuploid chromosome; and

(d) comparing said chromosome dose to at least one threshold value, and thereby identifying the presence or absence of fetal aneuploidy

2 - 43 . (canceled)