T/GDPMAA 0007-2021 Prenatal genetic diagnosis and genetic counseling for mosaicism of chromosomes
T/GDPMAA 0007-2021 Prenatal genetic diagnosis and genetic counseling for mosaicism of chromosomes
Basic Information
Scope
Scope: This standard applies to medical institutions that provide prenatal diagnosis services. When applying cytogenetic or molecular genetic techniques for prenatal diagnosis, the analysis, interpretation, verification, evaluation, and genetic counseling of detected chromosomal mosaics are required. Among them, prenatal genetic counseling opinions must be issued and implemented jointly by prenatal counseling physicians and genetic counselors in medical institutions that provide prenatal diagnosis services. Main technical content: This standard aims to define, classify, and detect chromosomal mosaics in prenatal genetic diagnosis, as well as to establish diagnostic principles, prognoses, and recurrence risk assessments. This standard only discusses in detail the prenatal diagnosis and genetic counseling of chromosomal mosaics. Other types of variants, such as copy number variations, single nucleotide variations/small fragment deletions/insertions, are not within the scope of this standard.