Consensus on technological standards for non-invasive prenatal screening of pathogenic copy number variations by high-throughput sequencing of maternal plasma cell-free DNA.
10.3760/cma.j.cn511374-20201208-00855
- Author:
Weiqiang LIU
1
;
Jiexia YANG
;
Jun ZHANG
;
Jian LU
;
Yangyi CHEN
;
Hongmin ZHU
;
Jiale XIANG
;
Yousheng WANG
;
Min WANG
;
Juan WANG
;
Qixi WU
;
Aihua YIN
Author Information
1. The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong 510150, China. yinaiwa@vip.126.com.
- Publication Type:Journal Article
- MeSH:
Aneuploidy;
Cell-Free Nucleic Acids/genetics*;
Consensus;
DNA Copy Number Variations;
Female;
High-Throughput Nucleotide Sequencing;
Humans;
Pregnancy;
Prenatal Diagnosis
- From:
Chinese Journal of Medical Genetics
2021;38(7):613-619
- CountryChina
- Language:Chinese
-
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.
