T/GDPMAA 0004-2020 The standard for non-invasive prenatal screening of fetal genomic diseases based on high-throughput sequencing of peripheral blood plasma-free DNA of pregnant women

Scope

Scope: This standard applies to hospitals with qualifications for clinical prenatal genetic diagnosis, qualified third-party medical laboratory that have signed cooperation agreements with prenatal diagnosis institutions, and other institutions that use high-throughput sequencing technology to carry out the full-process standardized clinical application of non-invasive prenatal screening of fetal genome diseases based on high-throughput sequencing of free DNA in maternal peripheral plasma; Main technical content: This standard specifies the clinical application of the technology of non-invasive prenatal screening of fetal genome diseases based on high-throughput sequencing of free DNA in maternal peripheral plasma, including the target diseases for screening, the scope of reporting for unexpected findings, the key points of genetic counseling before and after detection, the standard laboratory process and detailed records for screening, the quality control of the detection process and data analysis, the standard for technical parameters, the content of the screening report, the analysis of false positives, false negatives, and failed detection samples, and the standardized follow-up process, etc.

Development Information

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