Title:
METHOD FOR DETECTING FETAL CHROMOSOMAL ANEUPLOIDY
Document Type and Number:
WIPO Patent Application WO/2017/131359
Kind Code:
A1
Abstract:
Provided are: a method for detecting chromosomal aneuploidy for a target fetal chromosome; and a computer-readable medium in which a program to be applied in order to carry out the same is recorded. According to the present invention, fetal chromosomal aneuploidy can be non-invasively and prenatally diagnosed with excellent sensitivity and specificity.
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Inventors:
KIM SUN SHIN (KR)
JEONG MYUNG JUN (KR)
MIN KYUNG TAE (KR)
AN MIN AE (KR)
HA JUNG SU (KR)
LEE SO RA (KR)
BAE JIN HAN (KR)
JOO HEE JAE (KR)
JEONG MYUNG JUN (KR)
MIN KYUNG TAE (KR)
AN MIN AE (KR)
HA JUNG SU (KR)
LEE SO RA (KR)
BAE JIN HAN (KR)
JOO HEE JAE (KR)
Application Number:
PCT/KR2017/000266
Publication Date:
August 03, 2017
Filing Date:
January 09, 2017
Export Citation:
Assignee:
GENOMECARE CO LTD (KR)
International Classes:
C12Q1/68; G16B20/10; G16B20/20; G16B30/00
Foreign References:
| KR20140108177A | 2014-09-05 |
Other References:
LIAO ET AL.: "Noninvasive Prenatal Diagnosis of Common Aneuploidies by Semiconductor Sequencing", PNAS, vol. 111, no. 20, 2014, pages 7415 - 7420, XP055362638
ZHANG ET AL.: "Statistical Approach to Decreasing the Error Rate of Noninvasive Prenatal Aneuploid Detection Caused by Maternal Copy Number Variation", SCIENTIFIC REPORTS, vol. 5, 2015, pages 1 - 9, XP055407852
YEANG ET AL.: "Genome-wide Normalized Score: a Novel Algorithm to Detect Fetal Trisomy 21 during Non-invasive Prenatal Testing", ULTRASOUND IN OBSTETRICS AND GYNECOLOGY, vol. 44, 2014, pages 25 - 30, XP055407854
BAYINDIR ET AL.: "Noninvasive Prenatal Testing Using a Novel Analysis Pipeline to Screen for All Autosomal Fetal Aneuploidies Improves Pregnancy Management", EUROPEAN JOURNAL OF HUMAN GENETICS, vol. 23, 2015, pages 1286 - 1293, XP055378014
JENSEN ET AL.: "High-throughput massively Parallel Sequencing for Fetal Aneuploidy Detection from Maternal Plasma", PLOS ONE, vol. 8, no. 3, 2013, pages 1 - 8, XP055089612
KIM ET AL.: "An Adaptive Detection Method for Fetal Chromosomal Aneuploidy Using Cell -free DNA from 447 Korean Women", BMC MEDICAL GENOMICS, vol. 9, 3 October 2016 (2016-10-03), pages 1 - 8, XP055407874
ZHANG ET AL.: "Statistical Approach to Decreasing the Error Rate of Noninvasive Prenatal Aneuploid Detection Caused by Maternal Copy Number Variation", SCIENTIFIC REPORTS, vol. 5, 2015, pages 1 - 9, XP055407852
YEANG ET AL.: "Genome-wide Normalized Score: a Novel Algorithm to Detect Fetal Trisomy 21 during Non-invasive Prenatal Testing", ULTRASOUND IN OBSTETRICS AND GYNECOLOGY, vol. 44, 2014, pages 25 - 30, XP055407854
BAYINDIR ET AL.: "Noninvasive Prenatal Testing Using a Novel Analysis Pipeline to Screen for All Autosomal Fetal Aneuploidies Improves Pregnancy Management", EUROPEAN JOURNAL OF HUMAN GENETICS, vol. 23, 2015, pages 1286 - 1293, XP055378014
JENSEN ET AL.: "High-throughput massively Parallel Sequencing for Fetal Aneuploidy Detection from Maternal Plasma", PLOS ONE, vol. 8, no. 3, 2013, pages 1 - 8, XP055089612
KIM ET AL.: "An Adaptive Detection Method for Fetal Chromosomal Aneuploidy Using Cell -free DNA from 447 Korean Women", BMC MEDICAL GENOMICS, vol. 9, 3 October 2016 (2016-10-03), pages 1 - 8, XP055407874
Attorney, Agent or Firm:
Y.P.LEE, MOCK & PARTNERS (KR)
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