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ACMG Statements and Guidelines
These online statements and guidelines are definitive and may be cited using the digital object identifier (DOI). These recommendations are designed primarily as an educational resource for medical geneticists and other healthcare providers to help them provide quality medical genetics services; they should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. Please refer to the leading disclaimer in each document for more information.
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- ACMG Standards and GuidelinesOpen Archive
Technical standards and guidelines: Prenatal screening for open neural tube defects: This new section on “Prenatal Screening for Open Neural Tube Defects,” together with the new section on “Prenatal Screening for Down Syndrome,” replaces the previous Section H of the American College of Medical Genetics Standards and Guidelines for Clinical Genetics Laboratories
Genetics in MedicineVol. 7Issue 5p355–369Published in issue: May, 2005- Linda A. Bradley
- Glenn E. Palomaki
- Geraldine A. McDowell
- ONTD Working Group
- ACMG Laboratory Quality Assurance Committee
Cited in Scopus: 18This specific technical standards and guidelines statement is intended to augment the current general American College of Medical Genetics (ACMG) Standards and Guidelines for Clinical Genetics Laboratories and to address validation guidelines specific to second trimester maternal serum screening. Individual laboratories are responsible for meeting the CLIA/CAP quality assurance standards with respect to appropriate sample documentation, assay validation, general proficiency, and quality control measures. - ACMG Standards and GuidelinesOpen Archive
Technical standards and guidelines: Prenatal screening for Down syndrome: This new section on “Prenatal Screening for Down Syndrome,” together with the new section on “Prenatal Screening for Open Neural Tube Defects,” replaces the previous Section H of the American College of Medical Genetics Standards and Guidelines for Clinical Genetics Laboratories
Genetics in MedicineVol. 7Issue 5p344–354Published in issue: May, 2005- Glenn E. Palomaki
- Linda A. Bradley
- Geraldine A. McDowell
- Down Syndrome Working Group
- ACMG Laboratory Quality Assurance Committee
Cited in Scopus: 17This statement is intended to augment the current general American College of Medical Genetics (ACMG) Standards and Guidelines for Clinical Genetics Laboratories and to address validation guidelines specific to second trimester maternal serum screening for Down syndrome. Individual laboratories are responsible for meeting the CLIA/CAP quality assurance standards with respect to appropriate sample documentation, assay validation, general proficiency, and quality control measures.
