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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.
5 Results
- ACMG Policy StatementOpen Archive
Risk categorization for oversight of laboratory-developed tests for inherited conditions
Genetics in MedicineVol. 15Issue 4p314–315Published in issue: April, 2013- Kristin G. Monaghan
- Judith Benkendorf
- Athena M. Cherry
- Susan J. Gross
- C. Sue Richards
- Vernon Reid Sutton
- and others
Cited in Scopus: 10This document represents the proposed approach of the American College of Medical Genetics and Genomics (ACMG) to classify laboratory-developed tests for inherited conditions. Risk classification has been the determinant of whether or not medical tests are overseen and regulated by the US Food and Drug Administration (FDA). Therefore, because laboratory-developed tests for germline mutations continue to proliferate without sound regulatory frameworks in place, an ACMG-appointed workgroup of laboratorians and clinicians considered the medical risks and implications resulting from germline mutation analysis in a variety of contexts to develop the proposed approach. - ACMG Practice GuidelinesOpen Archive
Screening for fetal aneuploidy and neural tube defects
Genetics in MedicineVol. 11Issue 11p818–821Published in issue: November, 2009- Deborah A. Driscoll
- Susan J. Gross
- for the Professional Practice Guidelines Committee
Cited in Scopus: 63Maternal serum screening for neural tube defects and fetal aneuploidy in the second trimester has been incorporated into obstetrical practice over the past two decades. Now, as a result of several multicenter trials, first trimester screening between 11 and 14 weeks has been shown to be an effective and reliable screening test for Down syndrome and trisomy 18. This policy updates the American College of Medical Genetics policy statement entitled Second Trimester Maternal Serum Screening for Fetal Open Neural Tube Defects and Aneuploidy (2004), incorporates First trimester diagnosis and screening for fetal aneuploidy (2008) and complements the sections of American College of Medical Genetic's Standards and Guidelines for Clinical Genetics Laboratories entitled Prenatal Screening for Down syndrome (2005) and Prenatal Screening for Open Neural Tube Defects (2005). - ACMG-Practice-GuidelinesOpen Archive
First trimester diagnosis and screening for fetal aneuploidy
Genetics in MedicineVol. 10Issue 1p73–75Published in issue: January, 2008- Deborah A. Driscoll
- Susan J. Gross
- for the Professional Practice and Guidelines Committee
Cited in Scopus: 44Maternal serum screening for neural tube defects and fetal aneuploidy in the second trimester has been incorporated into obstetrical practice over the past two decades. Now, as a result of several multicenter trials, first trimester screening between 11 and 14 weeks has been shown to be an effective and reliable screening test for Down syndrome and trisomy 18. Benefits of first trimester screening include earlier identification of the pregnancy at risk for fetal aneuploidy and anatomic defects, in particular, cardiac anomalies, and the option of earlier diagnosis by chorionic villus sampling, if available. - ACMG-Practice-GuidelinesOpen Archive
Carrier screening in individuals of Ashkenazi Jewish descent
Genetics in MedicineVol. 10Issue 1p54–56Published in issue: January, 2008- Susan J. Gross
- Beth A. Pletcher
- Kristin G. Monaghan
- for the Professional Practice and Guidelines Committee
Cited in Scopus: 163This guideline is designed primarily as an educational resource for medical geneticists and other health care 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 Practice GuidelinesOpen Archive
Indications for genetic referral: a guide for healthcare providers
Genetics in MedicineVol. 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: 40Disclaimer: 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.
