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    • Cover Image - Genetics in Medicine, Volume 25, Issue 6
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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 Statement
    Open Archive

    ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

    Genetics in Medicine
    Vol. 23Issue 8p1381–1390Published in issue: August, 2021
    • David T. Miller
    • Kristy Lee
    • Wendy K. Chung
    • Adam S. Gordon
    • Gail E. Herman
    • Teri E. Klein
    • and others
    Cited in Scopus: 224
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      A correction to this article is available online at https://doi.org/10.1038/s41436-021-01278-8 .
      ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG)
    • ACMG Statement
      Open Archive

      Incidental detection of acquired variants in germline genetic and genomic testing: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

      Genetics in Medicine
      Vol. 23Issue 7p1179–1184Published in issue: July, 2021
      • Elizabeth C. Chao
      • Caroline Astbury
      • Joshua L. Deignan
      • Melissa Pronold
      • Honey V. Reddi
      • Jeffrey N. Weitzel
      • and others
      Cited in Scopus: 9
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        With recent advances in DNA sequencing technology, it is now possible to begin to appreciate the full scope of DNA variation that arises over the course of an individual’s lifetime.1,2 Our understanding of how the human genome changes over time and in response to external exposures is growing with the improved availability of next-generation sequencing (NGS) based testing, including exome/genome sequencing of large patient cohorts. Clinical laboratories employing NGS-based methodologies can detect many types of DNA sequence variation including those that are present at a reduced variant allele fraction (VAF) (i.e., less than the 50% expected for a heterozygous germline finding).
      • ACMG Statement
        Open Archive

        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
        Vol. 23Issue 6p989–995Published in issue: June, 2021
        • Michael F. Murray
        • Monica A. Giovanni
        • Debra L. Doyle
        • Steven M. Harrison
        • Elaine Lyon
        • Kandamurugu Manickam
        • and others
        Cited in Scopus: 28
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          A comment to this article is available online at https://doi.org/10.1038/s41436-021-01141-w .
          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)
        • ACMG Statement
          Open Archive

          DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG)

          Genetics in Medicine
          Vol. 23Issue 6p979–988Published in issue: June, 2021
          • Lora J.H. Bean
          • Maren T. Scheuner
          • Michael F. Murray
          • Leslie G. Biesecker
          • Robert C. Green
          • Kristin G. Monaghan
          • and others
          Cited in Scopus: 9
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            A comment to this article is available online at https://doi.org/10.1038/s41436-021-01141-w .
          • Addendum
            Open Archive

            Focused Revision: ACMG practice resource: Genetic evaluation of short stature

            Genetics in Medicine
            Vol. 23Issue 5p813–815Published in issue: May, 2021
            • Cassie S. Mintz
            • Laurie H. Seaver
            • Mira Irons
            • Adda Grimberg
            • Reymundo Lozano
            • ACMG Professional Practice and Guidelines Committee
            Cited in Scopus: 7
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              Addendum to: “ACMG practice guideline: Genetic evaluation of short stature”. Laurie H. Seaver, MD and Mira Irons, MD; ACMG Professional Practice and Guidelines Committee Genetics in Medicine 11:465–470 (2009); https://doi.org/10.1097/GIM.0b013e3181a7e8f8 ; published online 02 April 2009.
              Focused Revision: ACMG practice resource: Genetic evaluation of short stature
            • ACMG Technical Standard
              Open Archive

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

              Genetics in Medicine
              Vol. 23Issue 5p799–812Published in issue: May, 2021
              • Elaine Spector
              • Andrea Behlmann
              • Kathryn Kronquist
              • Nancy C. Rose
              • Elaine Lyon
              • Honey V. Reddi
              • and others
              Cited in Scopus: 14
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                Molecular genetic testing of the FMR1 gene is commonly performed in clinical laboratories. Pathogenic variants in the FMR1 gene are associated with fragile X syndrome, fragile X–associated tremor ataxia syndrome (FXTAS), and fragile X–associated primary ovarian insufficiency (FXPOI). This document provides updated information regarding FMR1 pathogenic variants, including prevalence, genotype–phenotype correlations, and variant nomenclature. Methodological considerations are provided for Southern blot analysis and polymerase chain reaction (PCR) amplification of FMR1, including triplet repeat–primed and methylation-specific PCR.
                Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
              • ACMG Technical Standard
                Open Archive

                Laboratory analysis of acylcarnitines, 2020 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

                Genetics in Medicine
                Vol. 23Issue 2p249–258Published in issue: February, 2021
                • Marcus J. Miller
                • Kristina Cusmano-Ozog
                • Devin Oglesbee
                • Sarah Young
                • ACMG Laboratory Quality Assurance Committee
                Cited in Scopus: 12
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                  Acylcarnitine analysis is a useful test for identifying patients with inborn errors of mitochondrial fatty acid β-oxidation and certain organic acidemias. Plasma is routinely used in the diagnostic workup of symptomatic patients. Urine analysis of targeted acylcarnitine species may be helpful in the diagnosis of glutaric acidemia type I and other disorders in which polar acylcarnitine species accumulate. For newborn screening applications, dried blood spot acylcarnitine analysis can be performed as a multiplex assay with other analytes, including amino acids, succinylacetone, guanidinoacetate, creatine, and lysophosphatidylcholines.
                  Laboratory analysis of acylcarnitines, 2020 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
                • Addendum
                  Open Archive

                  Addendum: ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing

                  Genetics in Medicine
                  Vol. 22Issue 12p2125Published in issue: December, 2020
                  • Michael T. Bashford
                  • Scott E. Hickey
                  • Cynthia J. Curry
                  • Helga V. Toriello
                  • The American College of Medical Genetics and Genomics (ACMG) Professional Practice and Guidelines Committee
                  Cited in Scopus: 0
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                    This is an addendum to the article available online at https://doi.org/10.1038/gim.2012.165 .
                  • Addendum
                    Open Archive

                    Addendum: Statement on nutritional supplements and piracetam for children with Down syndrome

                    Genetics in Medicine
                    Vol. 22Issue 12p2127Published in issue: December, 2020
                    • Manisha Balwani
                    • The American College of Medical Genetics and Genomics (ACMG) Professional Practice and Guidelines Committee
                    Cited in Scopus: 0
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                      The original statement was published in the ACMG newsletter in 1996.
                    • Addendum
                      Open Archive

                      Addendum: Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities

                      Genetics in Medicine
                      Vol. 22Issue 12p2126Published in issue: December, 2020
                      • Melanie Manning
                      • Louanne Hudgins
                      • The American College of Medical Genetics and Genomics (ACMG) Professional Practice and Guidelines Committee
                      Cited in Scopus: 2
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                        Addendum to: Genetics in Medicine 12:742–745 (2010) https://doi.org/10.1097/GIM.0b013e3181f8baad , published online 18 October 2010.
                      • Addendum
                        Open Archive

                        Addendum: American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation

                        Genetics in Medicine
                        Vol. 22Issue 12p2128Published in issue: December, 2020
                        • Edward D. Esplin
                        • American College of Medical Genetics and Genomics (ACMG) Professional Practice and Guidelines Committee
                        Cited in Scopus: 0
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                          Addendum to: Genetics in Medicine7:650–654 (2005); https://doi.org/10.1097/01.gim.0000186545.83160.1e , published online 01 November 2005
                        • ACMG Practice Resource
                          Open Archive

                          Treatment of mucopolysaccharidosis type II (Hunter syndrome): a Delphi derived practice resource of the American College of Medical Genetics and Genomics (ACMG)

                          Genetics in Medicine
                          Vol. 22Issue 11p1735–1742Published in issue: November, 2020
                          • Kim L. McBride
                          • Susan A. Berry
                          • Nancy Braverman
                          • ACMG Therapeutics Committee
                          Cited in Scopus: 6
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                            Mucopolysaccharidosis, type II (MPS II, MIM 309900) is a severe lysosomal storage disease with multisystem involvement. There is one product approved by the FDA, an enzyme replacement therapy, based on a phase III trial in older, attenuated MPS II individuals. Guidance on treatment of MPS II is lacking, not only in general, but for specific clinical situations. A previous systematic evidence-based review of treatment for MPS II demonstrated insufficient strength in all data analyzed to create a definitive practice guideline based solely on published evidence.
                            Treatment of mucopolysaccharidosis type II (Hunter syndrome): a Delphi derived practice resource of the American College of Medical Genetics and Genomics (ACMG)
                          • ACMG Statement
                            Open Archive

                            The interface of genomic information with the electronic health record: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

                            Genetics in Medicine
                            Vol. 22Issue 9p1431–1436Published in issue: September, 2020
                            • Theresa A. Grebe
                            • George Khushf
                            • Margaret Chen
                            • Dawn Bailey
                            • Leslie Manace Brenman
                            • Marc S. Williams
                            • and others
                            Cited in Scopus: 24
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                              Disclaimer: This statement is designed primarily as an educational resource for medical geneticists and other clinicians to help them provide quality medical services. Adherence to this statement is completely voluntary and does not necessarily assure a successful medical outcome. This statement 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 clinician should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen.
                            • Correction
                              Open Archive

                              Correction: Addendum: ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing

                              Genetics in Medicine
                              Vol. 22Issue 9p1568Published in issue: September, 2020
                              • Michael T. Bashford
                              • Scott E. Hickey
                              • Cynthia J. Curry
                              • Helga V. Toriello
                              Cited in Scopus: 0
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                                An amendment to this paper has been published and can be accessed via a link at the top of the paper.
                              • ACMG Statement
                                Open Archive

                                Points to consider when assessing relationships (or suspecting misattributed relationships) during family-based clinical genomic testing: a statement of the American College of Medical Genetics and Genomics (ACMG)

                                Genetics in Medicine
                                Vol. 22Issue 8p1285–1287Published in issue: August, 2020
                                • Joshua L. Deignan
                                • Elizabeth Chao
                                • Jennifer L. Gannon
                                • Henry T. Greely
                                • Kelly D. Farwell Hagman
                                • Rong Mao
                                • and others
                                Cited in Scopus: 6
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                                  Trio-based genetic analysis (typically involving a child and their biological parents) is an important tool in clinical diagnostic testing, as this type of analysis aids in developing an accurate understanding of the inheritance of variants observed in the proband.1-5 Understanding if a variant is inherited or is de novo can directly affect variant classification and result interpretation; consequently, misunderstanding the true biological relationship between analyzed samples can lead to erroneous clinical interpretations.
                                • ACMG Technical Standard
                                  Open Archive

                                  CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

                                  Genetics in Medicine
                                  Vol. 22Issue 8p1288–1295Published in issue: August, 2020
                                  • Joshua L. Deignan
                                  • Caroline Astbury
                                  • Garry R. Cutting
                                  • Daniela del Gaudio
                                  • Anthony R. Gregg
                                  • Wayne W. Grody
                                  • and others
                                  Cited in Scopus: 25
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                                    Pathogenic variants in the CFTR gene are causative of classic cystic fibrosis (CF) as well as some nonclassic CF phenotypes. In 2001, CF became the first target of pan-ethnic universal carrier screening by molecular methods. The American College of Medical Genetics and Genomics (ACMG) recommended a core panel of 23 disease-causing variants as the minimal set to be included in pan-ethnic carrier screening of individuals with no family history of the disease, and these variants were usually assessed using targeted methods.
                                  • ACMG Statement
                                    Open Archive

                                    Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)

                                    Genetics in Medicine
                                    Vol. 22Issue 7p1133–1141Published in issue: July, 2020
                                    • Daniela del Gaudio
                                    • Marwan Shinawi
                                    • Caroline Astbury
                                    • Marwan K. Tayeh
                                    • Kristen L. Deak
                                    • Gordana Raca
                                    • and others
                                    Cited in Scopus: 61
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                                      In 1980, Eric Engel1 first proposed the concept of uniparental disomy (UPD), in which both homologous chromosomes are inherited from one parent, with no contribution (for that chromosome) from the other parent. In 1988, the first case of a Mendelian disorder associated with UPD was reported, in which a child with cystic fibrosis (MIM 219700) had inherited two copies of a pathogenic variant in CFTR (MIM 602421) from a heterozygous carrier mother, with no contribution from the biological father.2
                                      Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)
                                    • ACMG Statement
                                      Open Archive

                                      Points to consider for reporting of germline variation in patients undergoing tumor testing: a statement of the American College of Medical Genetics and Genomics (ACMG)

                                      Genetics in Medicine
                                      Vol. 22Issue 7p1142–1148Published in issue: July, 2020
                                      • Marilyn M. Li
                                      • Elizabeth Chao
                                      • Edward D. Esplin
                                      • David T. Miller
                                      • Katherine L. Nathanson
                                      • Sharon E. Plon
                                      • and others
                                      Cited in Scopus: 43
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                                        The sequencing of tumor-derived DNA to identify tumor-specific variations (biomarkers) with potential diagnostic, prognostic, or predictive therapeutic implications (hereafter, “tumor testing”) is a prominent example of precision medicine. Although the primary goal of this testing is the identification of biomarkers to guide patient management, testing tumor genomes also has the potential to uncover clinically relevant germline variation that is associated with heritable cancer susceptibility and other conditions, and carrier status for autosomal recessive disorders, if confirmed to be present in the germline.
                                      • ACMG Statement
                                        Open Archive

                                        Risk categorization for oversight of laboratory-developed tests for inherited conditions: an updated position statement of the American College of Medical Genetics and Genomics (ACMG)

                                        Genetics in Medicine
                                        Vol. 22Issue 6p983–985Published in issue: June, 2020
                                        • Sarah T. South
                                        • Michelle McClure
                                        • Caroline Astbury
                                        • Michael T. Bashford
                                        • Judith Benkendorf
                                        • Edward D. Esplin
                                        • and others
                                        Cited in Scopus: 0
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                                          This document represents an update to the proposed approach of the American College of Medical Genetics and Genomics (ACMG) to categorize laboratory-developed tests (LDTs) for inherited conditions according to risk.1 Risk classification has historically been a determinant of whether, and to what extent, the US Food and Drug Administration (FDA) has overseen and regulated clinical tests. LDTs for constitutional variants continue to proliferate without a comprehensive federal regulatory framework in place.
                                        • ACMG Systematic Evidence Review
                                          Open Archive

                                          Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability

                                          Genetics in Medicine
                                          Vol. 22Issue 6p986–1004Published in issue: June, 2020
                                          • Jennifer Malinowski
                                          • David T. Miller
                                          • Laurie Demmer
                                          • Jennifer Gannon
                                          • Elaine Maria Pereira
                                          • Molly C. Schroeder
                                          • and others
                                          Cited in Scopus: 36
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                                            Exome and genome sequencing (ES/GS) are performed frequently in patients with congenital anomalies, developmental delay, or intellectual disability (CA/DD/ID), but the impact of results from ES/GS on clinical management and patient outcomes is not well characterized. A systematic evidence review (SER) can support future evidence-based guideline development for use of ES/GS in this patient population.
                                            Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability
                                          • ACMG Statement
                                            Open Archive

                                            Points to consider: is there evidence to support BRCA1/2 and other inherited breast cancer genetic testing for all breast cancer patients? A statement of the American College of Medical Genetics and Genomics (ACMG)

                                            Genetics in Medicine
                                            Vol. 22Issue 4p681–685Published in issue: April, 2020
                                            • Tuya Pal
                                            • Doreen Agnese
                                            • Mary Daly
                                            • Albert La Spada
                                            • Jennifer Litton
                                            • Myra Wick
                                            • and others
                                            Cited in Scopus: 20
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                                              Of all cancers that develop in women in the United States, breast cancer has the highest incidence, regardless of race or ethnicity, with an estimated 271,270 new cases and 42,260 deaths during 2019.1 Approximately 5–10% of breast cancers are estimated to result from hereditary causes, the majority of which are attributed to pathogenic or likely pathogenic (P/LP) variants in the BRCA1 and BRCA2 (BRCA1/2) genes, although other variants in genes such as PALB2, TP53, PTEN, CDH1, CHEK2, and ATM contribute.
                                            • ACMG Technical Standards
                                              Open Archive

                                              Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

                                              Genetics in Medicine
                                              Vol. 22Issue 4p686–697Published in issue: April, 2020
                                              • Irene De Biase
                                              • Silvia Tortorelli
                                              • Lisa Kratz
                                              • Steven J. Steinberg
                                              • Kristina Cusmano-Ozog
                                              • Nancy Braverman
                                              • and others
                                              Cited in Scopus: 11
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                                                Peroxisomal disorders are a clinically and genetically heterogeneous group of diseases caused by defects in peroxisomal biogenesis or function, usually impairing several metabolic pathways. Peroxisomal disorders are rare; however, the incidence may be underestimated due to the broad spectrum of clinical presentations. The inclusion of X-linked adrenoleukodystrophy to the Recommended Uniform Screening Panel for newborn screening programs in the United States may increase detection of this and other peroxisomal disorders.
                                                Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
                                              • ACMG Statement
                                                Open Archive

                                                The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG)

                                                Genetics in Medicine
                                                Vol. 22Issue 4p675–680Published in issue: April, 2020
                                                • Kristin G. Monaghan
                                                • Natalia T. Leach
                                                • Dawn Pekarek
                                                • Priya Prasad
                                                • Nancy C. Rose
                                                Cited in Scopus: 104
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                                                  Approximately 2–4% of pregnancies are complicated by significant fetal structural anomalies. Given respect for reproductive autonomy, all patients diagnosed with a fetal anomaly should be offered genetic counseling, including review of options for genetic testing.1 The prenatal testing strategy and test selection should be individualized and guided by prenatal imaging findings and family history. Current options include chromosomal studies by karyotyping, fluorescence in situ hybridization, and chromosomal microarray analysis (CMA) with consideration of targeted gene-specific molecular testing for suspected disorders.
                                                • ACMG Technical Standards
                                                  Open Archive

                                                  Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG)

                                                  Genetics in Medicine
                                                  Vol. 22Issue 3p453–461Published in issue: March, 2020
                                                  • Lora Bean
                                                  • Birgit Funke
                                                  • Colleen M. Carlston
                                                  • Jennifer L. Gannon
                                                  • Sibel Kantarci
                                                  • Bryan L. Krock
                                                  • and others
                                                  Cited in Scopus: 58
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                                                    Gene sequencing panels are a powerful diagnostic tool for many clinical presentations associated with genetic disorders. Advances in DNA sequencing technology have made gene panels more economical, flexible, and efficient. Because the genes included on gene panels vary widely between laboratories in gene content (e.g., number, reason for inclusion, evidence level for gene–disease association) and technical completeness (e.g., depth of coverage), standards that address technical and clinical aspects of gene panels are needed.
                                                    Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG)
                                                  • ACMG Technical Standards
                                                    Open Archive

                                                    Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

                                                    Genetics in Medicine
                                                    Vol. 22Issue 3p462–474Published in issue: March, 2020
                                                    • Glenn E. Palomaki
                                                    • Caleb Bupp
                                                    • Anthony R. Gregg
                                                    • Mary E. Norton
                                                    • Devin Oglesbee
                                                    • Robert G. Best
                                                    • and others
                                                    Cited in Scopus: 12
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                                                      Open neural tube defects (ONTDs) include open spina bifida (OSB) and anencephaly. These defects are caused by incomplete closure of the neural tube at about 4 weeks of pregnancy. Levels of early second-trimester maternal serum (ms) alpha-fetoprotein (AFP) are sufficiently elevated in affected pregnancies to be used as a population-based screening test. The basic screening methodology was described in the late 1970s and screening programs were active a few years later. By identifying pregnancies with the highest msAFP levels, about 80% of OSB and 95% of anencephaly can be identified as early as 16 weeks gestation.
                                                      Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
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