Consensus on technological standards for non-invasive prenatal screening of pathogenic copy number variations by high-throughput sequencing of maternal plasma cell-free DNA / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 613-619, 2021.
Article
in Chinese
| WPRIM (Western Pacific)
| ID: wpr-888359
Responsible library:
WPRO
ABSTRACT
Genomic disorders caused by pathogenic copy number variation (pCNV) have proven to underlie a significant proportion of birth defects. With technological advance, improvement of bioinformatics analysis procedure, and accumulation of clinical data, non-invasive prenatal screening of pCNV (NIPS-pCNV) by high-throughput sequencing of maternal plasma cell-free DNA has been put to use in clinical settings. Specialized standards for clinical application of NIPS-pCNV are required. Based on the discussion, 10 pCNV-associated diseases with well-defined conditions and 5 common chromosomal aneuploidy syndromes are recommended as the target of screening in this consensus. Meanwhile, a standardized procedure for NIPS-pCNV is also provided, which may facilitate propagation of this technique in clinical settings.
Full text:
Available
Database:
WPRIM (Western Pacific)
Main subject:
Prenatal Diagnosis
/
Consensus
/
DNA Copy Number Variations
/
High-Throughput Nucleotide Sequencing
/
Cell-Free Nucleic Acids
/
Aneuploidy
Type of study:
Diagnostic study
/
Practice guideline
/
Screening study
Limits:
Female
/
Humans
/
Pregnancy
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2021
Document type:
Article