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MaterniT® 21 Plus

MaterniT® 21 Plus screens for certain chromosomal abnormalities called trisomies. These include Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome) Trisomy 13 (Patau syndrome), Trisomy 16* and Trisomy 22*. MaterniT® 21 Plus also identifies fetal sex.

And it digs deeper, screening for other less common but serious conditions. These include certain sex chromosome aneuploidies or SCAs (abnormal numbers of X or Y chromosome) and selected microdeletions (missing parts of chromosomes). These rare abnormalities can have profound consequences in the life and health of your child. These less common abnormalities* include SCAs, 45,X (Turner syndrome), 47,XXY (Klinefelter syndrome) 47,XXX (Triple X syndrome) 47,XYY (XYY syndrome). Microdeletions include 22q (DiGeorge Syndrome), 11q (Jacobsen syndrome), 5p (Cri-du-chat syndrome), 8q (Langer-Giedion syndrome), 1p36 deletion syndrome, 4p (Wolf-Hirschhorn syndrome), and 15q (Prader-Willi syndrome; Angelman syndrome).

Highly reliable, over 1.5 million tests have been performed since 2011, with over 30,000 twins.

*These microdeletions and rarer aneuploidies are reported as an additional finding.

Early detection of pregnancy problems can help your doctor recommend specialized care for you and your pregnancy. Performed using a sample of the mother’s blood, MaterniT® 21 Plus is the only non-invasive prenatal test (NIPT) validated for twins and other multiple pregnancies and pregnancies with a single fetus.

When you select the GENOME-Flex option, additional genetic analysis of your initial MaterniT® 21 results will be provided using the MaterniT Genome Test. It is often ordered if ultrasounds or other routine tests later in your pregnancy suggest a possible anomaly.

Highly customizable, additional testing options can be added to the base MaterniT 21 Plus test fee:
Additional ESS Screening $100
Additional SCA Screening $0
Additional ESS and SCA Screenin $100
Genome Flex $655 or $555, depending on primary test option selected.

What Test Additions are Required?

  MaterniT 21 PLUS Core MaterniT 21 PLUS + SCA MaterniT 21 PLUS + ESS MaterniT 21 PLUS + SCA + ESS GENOME-Flex Add On
Fetal sex (optional)
Trisomy 21 (Down syndrome)
Trisomy 18 (Edwards syndrome)
Trisomy 13 (Patau syndrome)
45,X (Turner syndrome)    
47,XXY (Klinefelter syndrome)    
47,XXX (Triple X syndrome)    
47,XYY (XYY syndrome)    
22q (DiGeorge syndrome)    
5p (Cri-du-chat syndrome)    
1p36 deletion syndrome    
15q (Prader-Willi syndrome)    
11q (Jacobsen syndrome)    
8q (Langer-Giedion syndrome)    
4p (Wolf-Hirschhorn syndrome)    
Trisomy 16    
Trisomy 22    

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. MaterniT® 21 Plus uses Cell-Free DNA testing (cfDNA), which does not replace the accuracy and precision of prenatal diagnosis with CVS or amniocentesis. A patient with a positive or high-risk result should be referred for genetic counselling. Tests are 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 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 non-reportable test result may involve invasive prenatal testing and additional studies on the mother. Such investigations may lead to a diagnosis 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 locations 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, or maternal systemic lupus erythematosus (SLE). Test results, 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 this test alone.

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