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GTR Home > Tests > Prenatal ccfDNA screening for fetal aneuploidy


Test order codeHelp: TGPNI

Test name


Prenatal ccfDNA screening for fetal aneuploidy (NIPT / TGPNI)

Purpose of the test


This is a clinical test intended for Help: Screening



Click Indication tab for more information.

How to order


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


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


Avoidance of invasive testing

  • No. 348-Joint SOGC-CCMG Guideline: Update on Prenatal Screening for Fetal Aneuploidy, Fetal Anomalies, and Adverse Pregnancy Outcomes. - PubMed ID: 28859766

Clinical validity


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).


Testing strategy


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

  • Clinical Testing/Confirmation of Mutations Identified Previously

Practice guidelines

  • ACMG ACT, 2020
    American College of Medical Genetics and Genomics Noninvasive Prenatal Screening via Cell-Free DNA ACT Sheet, Trisomy 13: Positive Cell Free DNA Screen, 2020

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