Rapid aneuploidy detection
CN104350158BActive Publication Date: 2025-08-12JOHNS HOPKINS UNIVERSITY
Patent Information
- Application Number
- CN201380026625.9
- Authority / Receiving Office
- CN · China
- Patent Type
- Patents(China)
- Current Assignee / Owner
- Priority Date
- 2012-06-14
- Filing Date
- 2013-03-22
- Publication Date
- 2025-08-12
- Estimated Expiration
- 2033-07-11
Smart Images
Figure HDA0000613156170000011 
Figure HDA0000613156170000021 
Figure HDA0000613156170000031
Abstract
Massively parallel sequencing of cell-free maternal plasma DNA has recently been demonstrated to be a safe and effective method for screening for fetal chromosomal aneuploidy. Here, we report an improved sequencing method that significantly increases throughput and reduces costs by replacing the laborious sequencing library preparation step with PCR using a single primer pair. Using this method, samples containing as little as 4% trisomy 21 DNA can be readily distinguished from euploid samples.
Need to check novelty before this filing date? Find Prior Art
Citation Information
Patent Citations
Furnace
CA43460A
Upright piano-forte action
CA57345A
Medicinal compound
CA62924A
Diagnosing fetal chromosomal aneuploidy using massively parallel genomic sequencing
US20120003637A1
Nucleic acid amplification
EP2261371A2