T/GDPMAA 0004-2020 Technical standards for noninvasive prenatal screening of pathogenic copy number variants by high-throughput sequencing of maternal plasma cell-free DNA (English Version)
This standard specifies the clinical application of non-invasive prenatal screening for fetal genomic diseases based on high-throughput sequencing of maternal peripheral plasma cell-free DNA, the target diseases for screening, the reporting scope of unexpected findings, the key points of genetic counseling before and after testing, and screening Laboratory standard procedures and record details, quality control of experimental procedures, data analysis and technical parameter standards, screening report content, analysis of false positives, false negatives, failed specimens and standardized follow-up procedures, etc.
T/GDPMAA 0004-2020 history
2020T/GDPMAA 0004-2020 Technical standards for noninvasive prenatal screening of pathogenic copy number variants by high-throughput sequencing of maternal plasma cell-free DNA