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MaterniT21® PLUS resources

Test brochure

Enhanced Sequencing Series guide

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Delivering results. Confidently.

Expectant couples are often overwhelmed with information. They're anxious. They're worried. And they're looking to you for answers. The MaterniT21® PLUS laboratory-developed test provides you and your patients with highly accurate results so you and your patients can have important information.

Revolutionizing answers

The MaterniT21 PLUS test is a noninvasive prenatal test (or NIPT) that detects fetal chromosomal abnormalities; from common (trisomies 21, 18 and 13) to the more rare (fetal sex aneuploidies, trisomies 16 and 22, and select microdeletions), all of the information reported is clinically relevant.

MaterniT21 PLUS sets the benchmark for noninvasive prenatal testing

The MaterniT21 PLUS test is designed to capitalize on its powerful technological capabilities. Using versatile technology, the MaterniT21 PLUS test brings information to you and your patients in an unprecedented noninvasive prenatal test.

The Enhanced Sequencing Series, exclusively for the MaterniT21 PLUS test

Meaningful answers. Clear results. The power of MPS.

Massively parallel sequencing (MPS) is uniquely positioned to realize the promise of delivering relevant, enhanced information. Other methods lack the adaptability to efficiently add meaningful content.

The MaterniT21 PLUS test delivers revolutionary content. This is merely a glimpse of all that it will offer you and your patients over time. You can count on the MaterniT21 PLUS test to provide you with clarity, allowing you to provide the most advanced information available to your patients, noninvasively.

Innovation translating to premium content

In addition to content that you have come to rely on (chromosomes 21, 18, 13, X and fetal gender), the Enhanced Sequencing Series includes:

  • 22q deletion syndrome (DiGeorge)
  • 5p (Cri-du-chat syndrome)
  • 15q (Prader-Willi/Angelman syndromes)
  • 1p36 deletion syndrome
  • 4p (Wolf-Hirschhorn syndrome)
  • 8q (Langer-Giedion syndrome)
  • 11q (Jacobsen syndrome)
  • Trisomy 16
  • Trisomy 22

Other prenatal tests offer risk scores or unclear results. The MaterniT21 PLUS test reports test results as positive, negative or an Additional Finding, providing you and your patients with clear results.


Offering very low published and commercial non-reportable rates


References:  Bianchi3, Norton4, Palomaki5, Pergament6


Get an answer. The first time.

The MaterniT21 PLUS test has the lowest published and commercial non-reportable results rates to date. The unmatched performance of the MaterniT21 PLUS test means your patients can avoid retesting or potentially an unnecessary invasive procedure due to non-reportable results rates.


Clinical indications for testing

We offer this test for pregnancies with one or more of the following conditions:

  • Advanced maternal age
  • Personal or family history of chromosomal abnormalities
  • Fetal ultrasound abnormality suggestive of chromosomal abnormalities
  • Positive serum screening test
x-chromosome MaterniT21 PLUS

About the test

What does it test for?
MaterniT21 PLUS tests for fetal chromosomal abnormalities such as trisomy 21, 18 and 13. In addition, when a clear result is seen, our laboratory will also report fetal sex aneuploidies, trisomy 16 and 22, and select microdeletions, including 22q (DiGeorge syndrome), 15q (Prader-Willi/Angelman syndromes), 11q (Jacobsen syndrome), 8q (Langer-Giedion syndrome), 5p (Cri-du-chat syndrome), 4p (Wolf-Hirschhorn syndrome), and 1p36 deletion syndrome as an Additional Finding.

What specific fetal sex aneuploidies does it look for?

When can it be used?
Our test is indicated for use as early as 10 weeks’ gestation.

What specific information is included with the Enhanced Sequencing Series?
22q (DiGeorge syndrome), 15q (Prader-Willi/Angelman syndromes), 11q (Jacobsen syndrome), 8q (Langer-Giedion syndrome), 5p (Cri-du-chat syndrome), 4p (Wolf-Hirschhorn syndrome), 1p36 deletion syndrome, trisomy 16, and trisomy 22.

What is the turnaround time?
The blood sample is sent to the laboratory and results are reported to you in approximately 5 days from receipt of the sample in the lab.

How many tubes of blood do you need to run test?
2 x 10 mL in the mottled black/tan top blood collection tubes that are provided.

Are there any clinical restrictions that I should know about your test? 
We can run samples from multifetal gestations in this pregnancy, egg donors, and IVF patients -- essentially any increased risk pregnant woman.

How well does it work?
The MaterniT21 PLUS test sensitivity ranges from 99.1% for trisomy 21; > 99.9% for trisomy 18; and 91.7% for trisomy 13, while maintaining a very low false positive rate (95% CI - 96.3–99.8%; 92.4-100%; and 59.7-99.6% respectively).

Clinical data

Better results born of better science

The MaterniT21 PLUS test has the most comprehensive data published to date, and the most advanced science of its kind available today. At Sequenom Laboratories, we believe deeply in our motto: Quality of Science. This means we do not compromise in the detail and diligence of the research and development on which our products and service offerings are grounded.

The test has been validated in the largest of its kind, independently designed, analyzed, and published clinical study. The robust data is derived from testing more than 2,800 pregnant women’s blood samples, which included 375 trisomies.9, 10, 11, 12 No other test comes close in terms of scale.

Moreover, the MaterniT21 PLUS test was the first noninvasive prenatal laboratory-developed test to be commercialized in October 2011, and over 250,000 commercial tests have been performed to date. The MaterniT21 PLUS test remains the noninvasive prenatal test industry leader on the market today.


MaterniT21 PLUS test
independent validation 1, 5, 7, 8, 9

210 of 212 trisomy 21

99.1% 99.9%
59 of 59 trisomy 18

>99.9% 99.6%
11 of 12 trisomy 13

91.7% 99.7%
8 of 8 multiple gestations:
     7 of trisomy 21
     1 of trisomy 13

>99.9% detection rate
Fetal gender

99.4% accuracy
25 of 26 combine sex aneuploidies

96.2% 99.7%

Performance in laboratory

The MaterniT21 PLUS test has the lowest published and commercial non-reportable results rates to date. Other noninvasive prenatal tests don’t provide clear results and have “suspected” report results, unclear risk scores, and have high clinically published non-reportable results rates ranging from 4.6% to 12.6%.


Speed matters

The MaterniT21 PLUS test is indicated for use as early as 10 weeks’ gestation9. The blood sample is sent to our laboratory and results are reported to you in approximately 5 days from receipt of the blood sample in the laboratory.


No test is perfect

While the results of the MaterniT21 PLUS 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 MaterniT21 PLUS test result should be referred for genetic counseling and offered invasive prenatal diagnosis for confirmation of test results.

A negative MaterniT21 PLUS test result does not ensure an unaffected pregnancy. The MaterniT21 PLUS 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 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 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 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.


Our commitment to scientific integrity is matched only by our commitment to customer support

Notification of results
You will be faxed the results and will also receive a phone call from a laboratory director for all positive test results. We want to help you with how to best communicate with your patients.

You can’t outsource excellent service
When you talk to someone at Sequenom Laboratories, you’re never talking to an outsourced contractor. Whether you're calling about billing, customer service, account management, or anything else, you’re talking to a Sequenom Laboratories specialist who is trained to help.

We'll bring the science to you
Education is critical to understanding the usage and benefits of the MaterniT21 PLUS test and our other tests. Thus, we have an entire team of field specialists, medical science liaisons, and national account directors whose job it is to turn you and your staff into experts. We want to ensure that you have all of the information you need to optimize your NIPT utilization.

Patient education materials
Your Sequenom Laboratories Business Development Manager would be happy to provide you with information to share with your patients, or you can email us at: clientservices@sequenom.com.

A test you can trust. Support you can count on.
Our commitment to you doesn't end with the test. It begins there. We are committed to providing you with outstanding customer support in all areas, including:

  • Sample collection and logistics.
  • Billing services and reimbursement questions.
  • Genetic counselors to discuss test information and results with clinicians.



The power of a comprehensive platform

The MaterniT21 PLUS test utilizes millions of pieces of sequence data from chromosomes across the genome. When coupled with extensive bioinformatic analysis, the raw data becomes a highly accurate and distinct analytical picture. The MaterniT21 PLUS test generates critical information and delivers it clearly. The platform is built for today and for the future.

Trisomies analyzed in validation studies 2, 3, 4, 5, 6

Trisomies analyzed in MaterniT21 PLUS validation studies

Rich content

The MaterniT21 PLUS test methodology allows for rich, clinically relevant content that currently detects chromosomal abnormalities for chromosomes 21, 18, 13 in singleton and higher order multiple pregnancies, as well as fetal gender.10, 11, 18, 19 Additionally, results are provided for fetal sex aneuploidies when observed, including X/XXY/XYY/XXX.15

The MaterniT21 PLUS test also offers the Enhanced Sequencing Series to report on select microdeletions and additional trisomies when observed, including 22q (DiGeorge syndrome), 15q (Angelman/Prader-Willi syndromes), 11q (Jacobsen syndrome), 8q (Langer-Giedion syndrome), 5p (Cri-du-chat syndrome), 4p (Wolf-Hirschhorn syndrome), 1p36 deletion syndrome, and rare fetal trisomies 16 and 22.

The MaterniT21 PLUS test continues to lead the industry through the introduction of additional enhancements to help you better manage your patients.


Results reporting

A single-page lab report is faxed to you. It is easy to understand and presents the results in a clear and concise way.


Accuracy made easy

One of the benefits of the MaterniT21 PLUS test is that it's easy to implement in your office.

  • Can be performed as early as 10 weeks’ gestation.
  • Simple collection of 2 x 10 mL whole blood in the blood collection tubes that are provided.
  • Results turnaround on average is 5 days from receipt of sample in the laboratory.

How do I get started?


Digital test requisition form (TRF) for your convenience 

click to download TRFThis digital TRF is provided for U.S. physician use only. 
Note:  Use of this form requires you to have a Sequenom Laboratories account number and a provider collection kit(s) as a prerequisite.

If you are not currently a Sequenom Laboratories customer, please contact us to order.
If you are interested in becoming an international distributor, please contact us at partnerships@sequenom.com.