Looking for breakthrough ideas for innovation challenges? Try Patsnap Eureka!

Method of detecting a fetal chromosomal abnormality

A chromosomal abnormality and chromosomal technology, which can be used in predicting the fetal gender in a pregnant female subject, a kit for implementing the method, and the detection field of trisomy 21, which can solve problems such as poor performance.

Pending Publication Date: 2020-03-24
PREMAITHA LTD
View PDF16 Cites 1 Cited by
  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

It will also significantly improve the ability to detect much smaller chromosomal abnormalities, such as microdeletions, where performance is currently very poor relative to more common chromosomal abnormalities

Method used

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
View more

Image

Smart Image Click on the blue labels to locate them in the text.
Viewing Examples
Smart Image
  • Method of detecting a fetal chromosomal abnormality
  • Method of detecting a fetal chromosomal abnormality
  • Method of detecting a fetal chromosomal abnormality

Examples

Experimental program
Comparison scheme
Effect test

Embodiment Construction

[0054] The first aspect of the present invention provides a method for detecting fetal chromosomal abnormalities, which includes the following steps:

[0055] (a) Isolation of nucleic acids from biological samples obtained from pregnant female subjects;

[0056] (b1) Select the nucleic acid fragment size value between 120 bp-135 bp for the best fetal fraction;

[0057] (b2) Separate nucleic acid fragments whose size is within 20 bp of the fragment size value selected in step (b1);

[0058] (c) determining the first number of the fragments aligned with the target region of the target chromosome, and determining the second number of the fragments aligned with the one or more target regions in the reference chromosome;

[0059] (d) Calculate the ratio or difference between the first and second quantities;

[0060] (e) Determine the presence of the fetal abnormality of the target chromosome based on the ratio or difference.

[0061] One aspect of the present disclosure that may be mentioned p...

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
Login to View More

PUM

No PUM Login to View More

Abstract

The invention relates to a novel method of detecting a fetal chromosomal abnormality, in particular, the invention relates to the detection of trisomy 21 (Down's syndrome) which comprises enrichment of the analysed fragment sizes from approximately 100bp to approximately 150bp. The invention also relates to kits for performing said method. The invention also relates to a method of predicting the gender of a fetus within a pregnant female subject.

Description

[0001] Invention field [0002] The present invention relates to a new method for detecting fetal chromosomal abnormalities. In particular, the present invention relates to the detection of trisomy 21 (Down's syndrome), which includes the enrichment of analyzed fragments of about 100 bp to about 150 bp. The invention also relates to a kit for implementing the method. The invention also relates to a method for predicting the sex of a fetus in a pregnant female subject. [0003] Background of the invention [0004] Down syndrome is a relatively common genetic disorder, affecting approximately one in 800 live births. The syndrome is caused by the presence of an extra whole chromosome 21 (trisomy 21, T21), or less commonly, by the presence of a large part of the extra chromosome. Trisomy involving other autosomes (ie T13 or T18) also occurs in live births, but it is rarer than T21. [0005] Usually, there is a disorder of fetal aneuploidy caused by extra chromosomes or chromosomal defec...

Claims

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
Login to View More

Application Information

Patent Timeline
no application Login to View More
Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6883C12Q1/6879
CPCC12Q1/6883C12Q2535/122C12Q2537/16C12Q2537/165G16B30/10G16B20/20C12N15/1034C12Q1/6879C12Q2600/156
Inventor F.克雷亚M.福尔曼M.里斯利R.舍尔默迪恩
Owner PREMAITHA LTD
Who we serve
  • R&D Engineer
  • R&D Manager
  • IP Professional
Why Patsnap Eureka
  • Industry Leading Data Capabilities
  • Powerful AI technology
  • Patent DNA Extraction
Social media
Patsnap Eureka Blog
Learn More
PatSnap group products

Browse by: Latest US Patents, China's latest patents, Technical Efficacy Thesaurus, Application Domain, Technology Topic, Popular Technical Reports.

© 2024 PatSnap. All rights reserved.Legal|Privacy policy|Modern Slavery Act Transparency Statement|Sitemap|About US| Contact US: help@patsnap.com