MaterniT® GENOME – Clinician
Powerful NIPT for whole-genome analysis.
Detects up to 25% more clinically relevant chromosomal information than other leading NIPTs.*
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MaterniT® GENOME Brochure
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NIPT is now in High Definition
The MaterniT® GENOME laboratory-developed test is the only genome-wide NIPT currently available. It provides information about gains or losses of chromosomal material across the genome, delivered with a simple reporting style designed to facilitate communication between doctor and patient.
The MaterniT® GENOME test is the only genome-wide NIPT that provides karyotype-level insight, information about deletions or duplications of chromosome material 7 Mb or larger, as well as analysis of seven clinically relevant microdeletion regions less than 7 Mb in size.
The test can be utilized as early as ten weeks gestation.
Processed in the United States of America by Sequenom Laboratories, the results are provided in approximately two weeks from sample collection.
Complicated Science Reported in Simple Terms
Sophisticated DNA analysis is delivered in straightforward terms—positive or negative—to facilitate effective communication between doctor and patient. A chromosome ideogram illustrates abnormal results for improved comprehension.
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.
*Incidence of fetal chromosomal and subchromosomal abnormalities based on Wellseley et al. Eur J Hum Genet. 2012 May; 20(5):521-6.