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Using nucleic acid size range for noninvasive prenatal testing and cancer detection

A range, cancer technology, applied in the field of non-invasive prenatal examination and cancer detection using nucleic acid size range, can solve the problems of NIPT overall performance adverse effects, low actual PPV, high test failure rate, etc.

Pending Publication Date: 2020-09-25
THE CHINESE UNIVERSITY OF HONG KONG +1
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  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

Thus, such test failures end up having a detrimental effect on the overall performance of the NIPT
For example, it was stated that a higher test failure rate would result in a lower actual PPV (Yaron Prenatal Diagnosis 2016;36:391-6)

Method used

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  • Using nucleic acid size range for noninvasive prenatal testing and cancer detection
  • Using nucleic acid size range for noninvasive prenatal testing and cancer detection
  • Using nucleic acid size range for noninvasive prenatal testing and cancer detection

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Embodiment Construction

[0062] Size-based cell-free DNA analysis has been used to analyze chromosomal aneuploidy and cancer in biological samples. However, using previous size-based techniques, it may be difficult to obtain statistically significant results when biological samples have low percentages of clinically relevant DNA. When the relative concentration of clinically relevant DNA is low, a previous size-based analysis can be used to confirm the results of another type of analysis rather than relying on a single analysis technique. Embodiments of the present invention involve the use of size bands, which may allow more episomal DNA to be used in the analysis, and may enable analysis of size patterns. Thus, size-based analysis can be performed accurately even at low relative concentrations of clinically relevant DNA.

[0063] In this study, we aimed to apply size analysis of cell-free DNA to reduce the limitation of relative concentration of fetal DNA required for NIPT. We aimed to increase th...

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Abstract

Size-band analysis is used to determine whether a chromosomal region exhibits a copy number aberration or an epigenetic alteration. Multiple size ranges may be analyzed instead of focusing on specificsizes. By using multiple size ranges instead of specific sizes, methods may analyze more sequence reads and may be able to determine whether a chromosomal region exhibits a copy number aberration even when clinically-relevant DNA may be a low fraction of the biological sample. Using multiple ranges may allow for the use of all sequence reads from a genomic region, rather than a selected subset ofreads in the genomic region. The accuracy of analysis may be increased with higher sensitivity at similar or higher specificity. Analysis may include fewer sequencing reads to achieve the same accuracy, resulting in a more efficient process.

Description

[0001] Cross References to Related Applications [0002] This application claims U.S. Provisional Application No. 62 / 2017, entitled "USING NUCLEIC ACID SIZE RANGE FOR NONINVASIVE PRENATALTESTING AND CANCER DETECTION," filed November 2, 2017 580,906, the entire contents of which are hereby incorporated by reference for all purposes. Background technique [0003] Demonstration of the presence of circulating cell-free DNA (cfDNA) of fetal origin in maternal plasma and serum (Lo et al., The Lancet, 1997;350:485–487) by non-invasive prenatal testing (NIPT ) has completely transformed the practice of prenatal testing. NIPT has the advantage of avoiding the risks associated with invasive tissue sampling such as by amniocentesis and chorionic villus sampling (CVS). To date, NIPT has been used for fetal RhD genotyping (Finning et al BMJ 2008;336:816–818; Lo et al NEngl J Med 1998; 339:1734–1738), fetal sex determination for sex-related disorders (Costa et al. New England Journal of...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883C12Q1/6886G16B20/10G16B15/00G16B20/00G16B40/20G16B40/00
CPCC12Q1/6809C12Q1/6883C12Q1/6886G16B20/10G16B20/00G16B40/20C12Q2600/154C12Q2600/156C12Q2537/16C12Q2537/165C12Q2545/113G16B15/00G16B30/00G16B40/00
Inventor 卢煜明赵慧君陈君赐江培勇
Owner THE CHINESE UNIVERSITY OF HONG KONG