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GTR Home > Tests > Prenatal ccfDNA screening for fetal aneuploidy

Overview

Test order codeHelp: TGPNI

Test name

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Prenatal ccfDNA screening for fetal aneuploidy (NIPT / TGPNI)

Purpose of the test

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This is a clinical test intended for Help: Screening

Condition

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Click Indication tab for more information.

How to order

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Standard form to be completed for women eligible to the public (free) NIPT test.
Order URL Help: https://aceptmdmz.chudequebec.ca/aceptm/#document/tgpni

Specimen source

Peripheral (whole) blood
Plasma

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Illumina NextSeq500
  • None/not applicable

Summary of what is tested

Click Methodology tab for more information.

Clinical utility

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Avoidance of invasive testing

Citations
  • No. 348-Joint SOGC-CCMG Guideline: Update on Prenatal Screening for Fetal Aneuploidy, Fetal Anomalies, and Adverse Pregnancy Outcomes

Clinical validity

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Maternal plasma cell-free DNA is a highly effective form of early prenatal screening of common trisomies (21, 18, 13) after 10 weeks’ gestation (II-2A). Currently, offering maternal plasma cell-free DNA to all women as a primary screening method is not fiscally feasible in most provinces. Offering cell-free DNA in a contingent model is an affordable option that has the potential to achieve improved performance while maintaining the benefits of conventional screening serum analyte and early ultrasound (III).

Citations

Testing strategy

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Massively parallel genomic sequencing of cell-free DNA fragments in maternal blood. 000 Standard form to be completed for women eligible to the public (free) NIPT test.

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously

Practice guidelines

  • 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.

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