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GTR Home > Tests > High-Resolution Rapid Microarray (CGH and SNP)

Indication

This is a clinical test intended for Help: Diagnosis

Clinical summary

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A disorder that results from a chromosomal abnormality. [from NCI]

Conditions tested

Target population

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Individuals with pregnancies that have abnormal ultrasound, abnormal karyotype, abnormal maternal serum screen (MSS) results, abnormal non-invasive prenatal testing (NIPT)/cell-free fetal DNA (cffDNA) test results, family history of chromosomal abnormality, and/or desire testing based on advanced maternal age or maternal anxiety. Testing is also appropriate for pregnancies resulting in stillbirth or fetal demise.

Citations

  • Clinical utility of array comparative genomic hybridisation for prenatal diagnosis: a cohort study of 3171 pregnancies. - PubMed ID: 22313859
  • Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies. - PubMed ID: 22865506
  • Committee Opinion No. 581: the use of chromosomal microarray analysis in prenatal diagnosis. - PubMed ID: 24264715

Clinical validity

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Not provided

Clinical utility

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Guidance for management

Citations
  • Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies. - PubMed ID: 22865506
  • Clinical utility of chromosomal microarray analysis. - PubMed ID: 23071206
  • Committee Opinion No. 581: the use of chromosomal microarray analysis in prenatal diagnosis. - PubMed ID: 24264715

Establish or confirm diagnosis

Citations
  • Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies. - PubMed ID: 22865506
  • Chromosomal microarray versus karyotyping for prenatal diagnosis. - PubMed ID: 23215555
  • Committee Opinion No. 581: the use of chromosomal microarray analysis in prenatal diagnosis. - PubMed ID: 24264715

Reproductive decision-making

Citations
  • Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies. - PubMed ID: 22865506
  • Chromosomal microarray versus karyotyping for prenatal diagnosis. - PubMed ID: 23215555
  • Committee Opinion No. 581: the use of chromosomal microarray analysis in prenatal diagnosis. - PubMed ID: 24264715

Practice guidelines

  • ACMG, 2021
    Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
  • NSGC, 2021
    National Society of Genetic Counselors Position Statement: Prenatal Cell-Free DNA Screening
  • ACMG, 2016
    Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics
  • ESHG/ASHG, 2015
    Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.
  • NSGC, 2013
    Noninvasive prenatal testing/noninvasive prenatal diagnosis: the position of the National Society of Genetic Counselors. (Replaced by NSCG, 2021 Statement)
  • ACMG, 2013
    ACMG statement on noninvasive prenatal screening for fetal aneuploidy. (See 2016 Update)
  • ICFMM, 2013
    Position Statement from the Italian College of Fetal Maternal Medicine: Non-invasive prenatal testing (NIPT) by maternal plasma DNA sequencing.
  • NSGC, 2013
    NSGC practice guideline: prenatal screening and diagnostic testing options for chromosome aneuploidy.

Consumer resources

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.