MaterniT Genome NIPT Test (Labcorp)

What Makes MaterniT GENOME Unique?

MaterniT GENOME is the first genome-wide Non-Invasive Prenatal Test (NIPT) in the UK that provides near karyotype-level information. Unlike most NIPTs, MaterniT GENOME analyses every chromosome of your baby to detect extra or missing parts (duplications, deletions) or whole chromosome changes.

Most NIPT tests, such as Harmony, Panorama focus on a limited number of specific chromosomes such as chromosome 13, 18 21 and the two sex chromosomes to detect Down Syndrome, Edward Syndrome, Patau Syndrome, Turner Syndrome and some may also detect specific microdeletions like 22q11 deletion (Di George Syndrome) and other rare abnormalities in other chromosomes. Optionally it will tell if the baby is  a boy or girl.

Conventional NIPT

Conventional NIPT

In contrast, the Labcorp MaterniT GENOME NIPT Test looks at all 46 chromosomes and detects up to 30% more genetic abnormalities, including chromosomal aneuploidies that other NIPTs might miss. This early detection allows for more proactive pregnancy management options.

Maternit Genome NIPT

Maternit Genome NIPT

Click on this 10 minute video to learn more about the Maternit Genome NIPT test!

Can MaterniT GENOME Detect All Abnormalities?

While MaterniT GENOME is very accurate, it is important to remember that it is a screening test, not a diagnostic one. Cell-free DNA (cfDNA) testing does not replace the accuracy of prenatal diagnosis methods like Chorionic Villus Sampling (CVS) or amniocentesis, which directly analyse the baby’s chromosomes. False positives and false negatives can occur for various reasons, and sometimes results cannot be reported.

Any findings from the MaterniT GENOME test need to be confirmed by other tests, potentially including invasive procedures like CVS or amniocentesis. At Innermost Healthcare we always advise patients with a positive report to seek confirmation of the findings and to receive genetic counselling. Decisions about pregnancy management should not be based solely on the results of this test or any other NIPT.

MaterniT GENOME is not a replacement for the 12-week Nuchal scan or the 20-week scan, which provide detailed information about your baby’s anatomy that blood tests cannot offer. Detailed fetal ultrasound scans, performed by skilled personnel, can detect most major birth defects, though some minor defects and certain types of anomalies may remain undetected until birth.

Availability

Please note that MaterniT GENOME is only available for single pregnancies, unlike other NIPT tests.

Who Should Consider MaterniT GENOME?

You might be advised to have the MaterniT GENOME test if:

  • You have had an abnormal screening result for this pregnancy.
  • You have a history of chromosome abnormality in a previous pregnancy.
  • You have a family history of chromosome abnormality.
  • An ultrasound scan identified abnormalities.

Alternatively, you may choose this test to gain as much information as possible about your baby’s chromosomes. MaterniT GENOME allows you to obtain near karyotype-level information without undergoing invasive procedures and the associated risk of miscarriage. It is important to make an informed decision on which NIPT to choose.

What to Expect

Although the test can be performed from week 9 of pregnancy, we recommend waiting until week 10 to reduce the risk of non-reportable results due to low cfDNA concentration in the mother’s blood. If the test is non-reportable, a second blood sample will be taken at no extra charge. If it remains unreportable after the second draw, you will be reimbursed the full cost of the test. However, MaterniT GENOME has a very low rate of non-reportable results.

Your blood sample will be sent the same day to Labcorp in the USA for processing. Results are typically received within 5-7 working days from the day of your blood draw. We will communicate your results to you via secure email, and if there is any concerning finding, you will be contacted by one of our team to discuss your results.

Why Do I Need a Scan Before the Blood Draw?

If you wish to have your NIPT performed before week 12, we would advise that a viability scan be conducted prior to your blood draw to ensure the health of your pregnancy and confirm a heartbeat is present and to exclude a multiple pregnancy. This scan is complimentary of you are attending our Cardiff clinic but if not you can arrange this locally.

What Will My Results Tell Me?

MaterniT GENOME identifies whole chromosome abnormalities like trisomy 21 (Down syndrome), trisomy 18, or trisomy 13, as well as extra or missing pieces of chromosome material (deletions, duplications). Some of these changes are associated with rare conditions like DiGeorge or Wolf-Hirschhorn syndromes, which may go undiagnosed at birth. Having this information before birth can help ensure you and your baby receive necessary support.

The test also determines the sex of your baby unless you choose not to.

Click here to download Maternity Genome Patient Brochure

Click here to see a sample POSITIVE Maternit Genome report!

Click here to see a sample NEGATIVE Maternit Genome report!