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.