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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 Down syndrome that includes first-trimester biochemistry and/or ultrasound measurements
Genetics in MedicineVol. 11Issue 9p669–681Published in issue: September, 2009- Glenn E. Palomaki
- Jo Ellen S. Lee
- Jacob A. Canick
- Geraldine A. McDowell
- Alan E. Donnenfeld
- for the ACMG Laboratory Quality Assurance Committee
Cited in Scopus: 37This statement is intended to augment the current general ACMG Standards and Guidelines for Clinical Genetics Laboratories and to address guidelines specific to first-trimester screening for Down syndrome. The aim is to provide the laboratory the necessary information to ensure accurate and reliable Down syndrome screening results given a screening protocol (e.g., combined first trimester and integrated testing). Information about various test combinations and their expected performance are provided, but other issues such as availability of reagents, patient interest in early test results, access to open neural tube defect screening, and availability of chorionic villus sampling are all contextual factors in deciding which screening protocol(s) will be selected by individual health care providers.
