Title:
METHOD AND APPARATUS FOR DETECTING FETAL CHROMOSOMAL ANEUPLOIDY, AND STORAGE MEDIUM
Document Type and Number:
WIPO Patent Application WO/2024/011929
Kind Code:
A1
Abstract:
The present application discloses a method and apparatus for detecting fetal chromosomal aneuploidy, and a storage medium. The method for detecting fetal chromosomal aneuploidy of the present application comprises: according to the concentration of fetal DNA in the cell-free DNA in the blood of a pregnant woman to be tested, a Z value, and chimerism, calculating a new Z value of the sample to be tested, and according to the new Z value, determining whether an aneuploidy abnormality has occurred in fetal chromosomes, the chimerism being the ratio of abnormal fetal cells to all fetal cells. In the present application, chimerism is inventively applied to fetal chromosomal aneuploidy detection, and three variables, i.e., the fetal DNA concentration, the chimerism, and the Z value, are taken into consideration to calculate the new Z value, such that NIPT accuracy can be improved, and true positive and false positive samples can be distinguished well, thereby reducing false positive samples; and the new Z value conforms to a normal distribution, such that the current supervision and clinical use requirements can be met, and data distribution fluctuations are reduced, thereby reducing the gray scale rate and the retest rate, and improving the stability of the test result.
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Inventors:
YANG JIECHUN (CN)
PENG JIGUANG (CN)
PENG ZHIYU (CN)
SUN JUAN (CN)
XIANG JIALE (CN)
LIU JINGJUAN (CN)
LI JINGROU (CN)
PENG JIGUANG (CN)
PENG ZHIYU (CN)
SUN JUAN (CN)
XIANG JIALE (CN)
LIU JINGJUAN (CN)
LI JINGROU (CN)
Application Number:
PCT/CN2023/080510
Publication Date:
January 18, 2024
Filing Date:
March 09, 2023
Export Citation:
Assignee:
BGI GENOMICS CO LTD (CN)
International Classes:
G16B20/20; G16B30/00; G16B40/00
Domestic Patent References:
| WO2017009372A2 | 2017-01-19 |
Foreign References:
| CN115223654A | 2022-10-21 | |||
| CN112669901A | 2021-04-16 | |||
| CN107133495A | 2017-09-05 |
Other References:
YANG, JIANFENG ET AL.: "Improving the calling of non-invasive prenatal testing on 13-/18-/21-trisomy by support vector machine discrimination", PLOS ONE, DOI:10.1371/JOURNAL.PONE.0207840, vol. 13, no. 12, 5 December 2018 (2018-12-05), XP093068911, DOI: 10.1371/journal.pone.0207840
XU, XUPING: "Methods to Quantify Cell-free Fetal DNA Fraction in Maternal Plasma: Its Application in Non-invasive Prenatal Chromosomal Aneuploidy Detection Using Next Generation Sequencing", MEDICINE & PUBLIC HEALTH, CHINA MASTER’S THESES FULL-TEXT DATABASE, no. 201901, 15 January 2019 (2019-01-15)
XU, XUPING: "Methods to Quantify Cell-free Fetal DNA Fraction in Maternal Plasma: Its Application in Non-invasive Prenatal Chromosomal Aneuploidy Detection Using Next Generation Sequencing", MEDICINE & PUBLIC HEALTH, CHINA MASTER’S THESES FULL-TEXT DATABASE, no. 201901, 15 January 2019 (2019-01-15)
Attorney, Agent or Firm:
DHC IP ATTORNEYS (CN)
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