A consensus recommendation for the interpretation and reporting of copy number variation and regions of homozygosity in prenatal genetic diagnosis / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 701-708, 2020.
Article
in Chinese
| WPRIM (Western Pacific)
| ID: wpr-826505
Responsible library:
WPRO
ABSTRACT
Chromosomal microdeletions and microduplications have been proven to be a significant proportion of genetic factors underlying birth defects. Chromosomal microarray analysis (CMA) and next generation sequencing-based copy number variation (CNV-seq) assay have been recommended as first-tier tests for prenatal evaluation of disease-causing CNV across the genome. With the broad application of such technologies in prenatal genetic diagnosis, there is a needed to enhance the consistency in interpretation and reporting of CNV results in clinical laboratories across China. In addition, a standard guideline for prenatal analysis and reporting of regions of homozygosity (ROH) is also required. To assist the classification, interpretation and reporting of CNV/ROH, the following recommendations have been developed, which may enhance a standard application of CMA/CNV-seq techniques in prenatal genetic diagnosis.
Full text:
Available
Database:
WPRIM (Western Pacific)
Type of study:
Practice guideline
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2020
Document type:
Article