Diagnostic cytogenetic testing following positive noninvasive prenatal screening results: a clinical laboratory practice resource of the American College of Medical Genetics and Genomics (ACMG)

Athena M Cherry; Yassmine M Akkari; Kimberly M Barr; Hutton M Kearney; Nancy C Rose; Sarah T South; James H Tepperberg; Jeanne M Meck

doi:10.1038/gim.2017.91

Diagnostic cytogenetic testing following positive noninvasive prenatal screening results: a clinical laboratory practice resource of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine ◽

10.1038/gim.2017.91 ◽

2017 ◽

Vol 19 (8) ◽

pp. 845-850 ◽

Cited By ~ 6

Author(s):

Athena M Cherry ◽

Yassmine M Akkari ◽

Kimberly M Barr ◽

Hutton M Kearney ◽

Nancy C Rose ◽

...

Keyword(s):

Prenatal Screening ◽

Clinical Laboratory ◽

Medical Genetics ◽

Laboratory Practice ◽

Noninvasive Prenatal Screening ◽

Cytogenetic Testing ◽

Genetics And Genomics

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Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics

Genetics in Medicine ◽

10.1038/gim.2016.97 ◽

2016 ◽

Vol 18 (10) ◽

pp. 1056-1065 ◽

Cited By ~ 285

Author(s):

Anthony R. Gregg ◽

◽

Brian G. Skotko ◽

Judith L. Benkendorf ◽

Kristin G. Monaghan ◽

...

Keyword(s):

Prenatal Screening ◽

Position Statement ◽

Medical Genetics ◽

Noninvasive Prenatal Screening ◽

Fetal Aneuploidy ◽

Genetics And Genomics

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Faculty Opinions recommendation of Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.726581740.793524406 ◽

2016 ◽

Author(s):

Ignatia Van den Veyver

Keyword(s):

Prenatal Screening ◽

Position Statement ◽

Medical Genetics ◽

Noninvasive Prenatal Screening ◽

Fetal Aneuploidy ◽

Genetics And Genomics

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Diagnostic cytogenetic testing following positive noninvasive prenatal screening results of sex chromosome abnormalities: Report of five cases and systematic review of evidence

Molecular Genetics & Genomic Medicine ◽

10.1002/mgg3.1297 ◽

2020 ◽

Vol 8 (7) ◽

Author(s):

Xiaolei Xie ◽

Weihe Tan ◽

Fuguang Li ◽

Eric Carrano ◽

Paola Ramirez ◽

...

Keyword(s):

Systematic Review ◽

Prenatal Screening ◽

Sex Chromosome ◽

Chromosome Abnormalities ◽

Noninvasive Prenatal Screening ◽

Sex Chromosome Abnormalities ◽

Cytogenetic Testing

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Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine ◽

10.1038/s41436-021-01139-4 ◽

2021 ◽

Author(s):

Catherine Rehder ◽

◽

Lora J. H. Bean ◽

David Bick ◽

Elizabeth Chao ◽

...

Keyword(s):

Next Generation Sequencing ◽

Clinical Laboratory ◽

Medical Genetics ◽

Technical Standard ◽

Next Generation ◽

Genetics And Genomics ◽

Generation Sequencing

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1057: Noninvasive prenatal screening for fetal aneuploidy in twin pregnancies: A clinical laboratory experience

American Journal of Obstetrics and Gynecology ◽

10.1016/j.ajog.2019.11.1071 ◽

2020 ◽

Vol 222 (1) ◽

pp. S654

Author(s):

Tessa Niemchak ◽

Craig Adamski ◽

Rachel Allen ◽

Stephanie Woods ◽

Thomas Monroe

Keyword(s):

Prenatal Screening ◽

Clinical Laboratory ◽

Laboratory Experience ◽

Noninvasive Prenatal Screening ◽

Fetal Aneuploidy ◽

Twin Pregnancies

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Faculty Opinions recommendation of Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.725378375.793543190 ◽

2018 ◽

Author(s):

Cristina Has

Keyword(s):

Molecular Pathology ◽

Medical Genetics ◽

Sequence Variants ◽

Consensus Recommendation ◽

Standards And Guidelines ◽

Genetics And Genomics

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Faculty Opinions recommendation of Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.731997757.793559896 ◽

2019 ◽

Author(s):

Tomas Szemes

Keyword(s):

Positive Predictive Value ◽

Predictive Value ◽

Prenatal Screening ◽

Diagnostic Laboratory ◽

Noninvasive Prenatal Screening

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Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine ◽

10.1038/s41436-021-01151-8 ◽

2021 ◽

Author(s):

Marc Tischkowitz ◽

◽

Judith Balmaña ◽

William D. Foulkes ◽

Paul James ◽

...

Keyword(s):

Clinical Practice ◽

Medical Genetics ◽

Germline Variants ◽

Genetics And Genomics

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Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine ◽

10.1038/s41436-021-01115-y ◽

2021 ◽

Author(s):

Elaine Spector ◽

◽

Andrea Behlmann ◽

Kathryn Kronquist ◽

Nancy C. Rose ◽

...

Keyword(s):

Laboratory Testing ◽

Fragile X ◽

Medical Genetics ◽

Technical Standard ◽

Genetics And Genomics

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DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine ◽

10.1038/s41436-020-01082-w ◽

2021 ◽

Author(s):

Michael F. Murray ◽

◽

Monica A. Giovanni ◽

Debra L. Doyle ◽

Steven M. Harrison ◽

...

Keyword(s):

Population Health ◽

Medical Genetics ◽

Genetics And Genomics

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