mobile menu button
A+ -A Français Make a Payment
Search Arrow

MaterniT® GENOME

MaterniT GENOME is our most robust non-invasive prenatal test (NIPT) that analyzes all chromosomes to detect any possible concerns. It can tell you if you screen positive or negative for trisomies 21 (Down syndrome), 18 (Edwards syndrome), and 13 (Patau syndrome), and the sex of the fetus. It also screens for all chromosome aneuploidies, including sex chromosome aneuploidies as well as clinically significant microdeletions and duplications across the entire genome.

Contained in every cell of the body, chromosomes provide the genetic roadmap to your baby’s development. MaterniT® GENOME analyzes all the chromosomes to detect possible concerns. Having early information about chromosomal irregularities can help ensure your pregnancy receives the proper and necessary support.

Like most NIPTs, MaterniT GENOME can tell you if you screen positive or negative for trisomies 21 (Down syndrome), 18 (Edwards syndrome), and 13 (Patau syndrome), and if you’re having a boy or a girl. But it can also find other chromosomal changes that may go undiagnosed at birth. Having information about these chromosomal changes before birth can help ensure your baby receives the proper and necessary support.

MaterniT GENOME reports on any trisomy or monosomy, meaning:

  • Trisomy: extra copy of a chromosome is present (3 instead of 2)
  • Monosomy: missing copy of a chromosome (1 instead of 2)
  • Sex chromosome abnormalities: Atypical number of X and/ or Y chromosomes beyond typical female (XX) or male (XY) complement
  • Partial chromosome abnormalities - Very small part of the chromosome is extra or missing
  • Mosaicism: mixture of cells with normal and abnormal numbers of chromosomes

MaterniT GENOME is an ideal fit for high-risk pregnancies where a patient may wish to avoid a diagnostic procedure or where screening for common aneuploidies may not be enough.

Sample Type: Maternal Blood

Preparation Instructions: none.

Other Considerations

These tests provide highly accurate results. However, from time to time errors such as inaccurate fetal sex prediction may occur due to placental, maternal, or fetal mosaicism or neoplasm, vanishing twin, prior maternal organ transplant or other causes. Sex chromosomal aneuploidies are not reportable for known multiple gestations. The MaterniT Genome assay is not validated for multifetal pregnancies; multifetal samples are excluded from the resequencing pathway. These tests are screening tests and not diagnostic; they do not replace the accuracy and precision of prenatal diagnosis with CVS or amniocentesis. A patient with a positive test result should be referred for genetic counselling and offered invasive prenatal diagnosis to confirm the test results. A negative result does not ensure an unaffected pregnancy, nor does it exclude the possibility of other chromosomal abnormalities or birth defects that are not a part of these tests.

An uninformative result may be reported, the causes of which may include, but are not limited to, insufficient sequencing coverage, noise or artifacts in the region, amplification or sequencing bias, or insufficient fetal fraction. These tests are not intended to identify pregnancies at risk for neural tube defects or ventral wall defects. Testing for whole chromosome abnormalities (including sex chromosomes) and subchromosomal abnormalities could lead to the potential discovery of both fetal and maternal genomic abnormalities that could have major, minor, or no clinical significance. Evaluating the significance of a positive or a non-reportable result may involve invasive testing and additional studies on the mother. Such investigations may lead to a diagnosis of maternal chromosome or subchromosomal abnormalities, which on occasion may be associated with benign or malignant maternal neoplasms. These tests may not accurately identify fetal triploidy, balanced rearrangements, or the precise location of subchromosomal duplications or deletions; these may be detected by prenatal diagnosis with CVS or amniocentesis.

The ability to report results may be impacted by maternal BMI, maternal weight, maternal systemic lupus erythematosus (SLE) or by certain pharmaceutical agents such as low molecular weight heparin (for example, Lovenox®, Xaparin®, Clexane®, and Fragmin®). Test results, including benefits and limitations, should be discussed with a qualified healthcare provider. Pregnancy management decisions, including termination of pregnancy, should not be based on the results of these tests alone. The healthcare provider is responsible for the use of this information in the management of their patient.

How to Get MaterniT® Screening

  • 1. Download a MaterniT®  Requisition
  • 2. Obtain Your Doctor’s Signature
  • 3. Provide Sample
    Call 888.988.1888 for sample collection instructions in your region.
  • 4. Get Your Results