MaterniT® GENOME – Patient
The most comprehensive information available from a noninvasive prenatal test to date.
All-in-one noninvasive prenatal testing for chromosomal abnormalities genome-wide.
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MaterniT® GENOME Brochure
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Knowledge is empowering
The MaterniT® GENOME laboratory-developed test is the only noninvasive prenatal test available to date that can analyze every chromosome of your baby to identify extra or missing parts of chromosomes or whole chromosome changes—as early as ten weeks into your pregnancy.
Is my pregnancy at risk of a chromosomal abnormality?
Anyone can have a pregnancy with a chromosomal abnormality—healthy women, mothers of all ages and all ethnicities can be at risk.
A new era of NIPT
With the MaterniT® GENOME laboratory-developed test, Sequenom Laboratories in the United States of America introduced the only noninvasive approach to assessing chromosome information to date with the ease of a blood draw that can analyze EVERY chromosome in the genome.
What can I learn from MaterniT® GENOME?
As early as ten weeks gestation, the MaterniT® GENOME test can identify common whole chromosome abnormalities such as trisomy 21 (Down syndrome) as well as extra or missing parts of chromosomes that can cause genetic conditions difficult to diagnose at birth. Test results are easy to understand and available within two weeks after the sample is received in the laboratory. Gaining prenatal knowledge of these conditions can help ensure that your baby receives the proper care immediately.
Clear Concise Results
With exceptional sensitivity and specificity, MaterniT® GENOME is effective in identifying > 95% of genome-wide deletions or duplications ≥ 7 Mb.
No Test is Perfect
While the results of the MaterniT® GENOME test are highly accurate, discordant results, including inaccurate fetal sex prediction, may occur due to: placental, maternal, or fetal mosaicism or neoplasm; vanishing twin; prior maternal organ transplant; or other causes. Cell-free DNA (cfDNA) testing does not replace the accuracy and precision of prenatal diagnosis with CVS or amniocentesis. A patient with a positive MaterniT® GENOME test result should be referred for genetic counseling and offered invasive prenatal diagnosis for confirmation of test results. A negative MaterniT® GENOME test result does not ensure an unaffected pregnancy. 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. The MaterniT® GENOME test is not intended to identify pregnancies at risk for neural tube defects or ventral wall defects. cfDNA testing for whole chromosome abnormalities (including sex chromosomes) and for subchromosomal abnormalities could lead to the potential discovery of both fetal and maternal genomic abnormalities that could have minor, or no, clinical significance. Evaluating the significance of a positive or a non-reportable test result may involve both invasive prenatal testing and additional studies on the mother. Such investigations may lead to detection of maternal chromosomal or subchromosomal abnormalities, which on occasion may be associated with benign or malignant maternal neoplasms. cfDNA testing 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 body mass index (BMI), maternal weight, and/or maternal systemic lupus erythematosus (SLE). The results of this testing, including the benefits and limitations, should be discussed with a qualified health care provider. Pregnancy management decisions, including termination of the pregnancy, should not be based on the results of this test alone.