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    • ACMG Statements and Guidelines
    • genetic screeningRemove genetic screening filter
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    • Research Article4

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    Author

    • Bradley, Linda A2
    • McDowell, Geraldine A2
    • Palomaki, Glenn E2
    • Anderson, Rebecca R1
    • Bennett, Robin L1
    • David, Karen L1
    • Driscoll, Deborah A1
    • Gross, Susan J1
    • Noblin, Sarah J1
    • Pletcher, Beth A1
    • Ross, Laine Friedman1
    • Saal, Howard M1
    • Seaver, Laurie H1
    • Toriello, Helga V1

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    • Genetics in Medicine4

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    • maternal serum screening2
    • prenatal diagnosis2
    • carrier identification1
    • disclosure1
    • Down syndrome1
    • genetic evaluation1
    • genetic referral1
    • genetic testing1
    • newborn screening1
    • open neural tube defects1
    • preconceptional testing1
    • predictive testing1
    • prenatal testing1

    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 Policy Statement
      Open Archive

      Technical report: ethical and policy issues in genetic testing and screening of children

      Genetics in Medicine
      Vol. 15Issue 3p234–245Published in issue: March, 2013
      • Laine Friedman Ross
      • Howard M. Saal
      • Karen L. David
      • Rebecca R. Anderson
      • the American Academy of Pediatrics; American College of Medical Genetics and Genomics
      Cited in Scopus: 307
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        The genetic testing and genetic screening of children are commonplace. Decisions about whether to offer genetic testing and screening should be driven by the best interest of the child. The growing literature on the psychosocial and clinical effects of such testing and screening can help inform best practices. This technical report provides ethical justification and empirical data in support of the proposed policy recommendations regarding such practices in a myriad of settings.Genet Med 2013:15(3):234–245
      • ACMG Practice Guidelines
        Open Archive

        Indications for genetic referral: a guide for healthcare providers

        Genetics in Medicine
        Vol. 9Issue 6p385–389Published in issue: June, 2007
        • Beth A. Pletcher
        • Helga V. Toriello
        • Sarah J. Noblin
        • Laurie H. Seaver
        • Deborah A. Driscoll
        • Robin L. Bennett
        • and others
        Cited in Scopus: 40
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          Disclaimer: This guideline is designed primarily as an educational resource for medical geneticists and other healthcare providers to help them provide quality medical genetic services. Adherence to this guideline does not necessarily assure a successful medical outcome. This guideline 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. In determining the propriety of any specific procedure or test, the geneticist should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen.
        • ACMG Standards and Guidelines
          Open 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 Medicine
          Vol. 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: 18
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            This 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 Guidelines
            Open 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 Medicine
            Vol. 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: 17
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            • Download PDF
            • Export Citation
              This 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.
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