Prenatal ccfDNA screening for fetal aneuploidy

GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000593384.1
Last updated: 2021-06-23
Annual Review past due read more
Test version history
- 593384.1, last updated: 2021-06-23

Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Complete trisomy 13 syndrome
Offered by Laboratoire de Diagnostic Moleculaire

Overview

Test order codeHelp: TGPNI

Prenatal ccfDNA screening for fetal aneuploidy (NIPT / TGPNI)

This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Screening

Click Indication tab for more information.

Standard form to be completed for women eligible to the public (free) NIPT test.
Order URL HelpLink to the laboratory webpage with information about how to order this test. Please note that clicking on this link will open a new tab in your internet browser.: https://aceptmdmz.chudequebec.ca/aceptm/#document/tgpni

Specimen source

Peripheral (whole) blood

Plasma

Specimen requirements: https://aceptmdmz.chudequebec.ca/aceptm/#document/tgpni

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.

Avoidance of invasive testing

Citations

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

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

https://www.jogc.com/article/S1701-2163(17)30070-1/abstract
https://www.jogc.com/article/S1701-2163(17)30070-1/abstract

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.

Clinical Testing/Confirmation of Mutations Identified Previously

Reviews

Clinical resources

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

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.

Prenatal ccfDNA screening for fetal aneuploidy

Overview

Test name

Purpose of the test

Condition

How to order

Specimen source

Methodology

Summary of what is tested

Clinical utility

Avoidance of invasive testing

Clinical validity

Testing strategy

Test services

Reviews

Clinical resources

Practice guidelines

Consumer resources