Better results born of better science.

Delivering results. Confidently.

Expectant couples are often overwhelmed with information. They’re anxious. They’re worried. And they’re looking to you for answers. Our MaterniT21™ PLUS laboratory-developed test provides you and your patients with highly accurate information so you and your patients can make well informed decisions.

Revolutionizing answers.

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

We set the benchmark for noninvasive prenatal testing.

Our MaterniT21 PLUS test is designed to capitalize on its powerful technological capabilities. Using a versatile platform, we can now bring unprecedented information to you and your patients in a noninvasive prenatal 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.

We are proud to be your partner and deliver revolutionary content. This is merely a glimpse of all that we will bring you and your patients over time. You can count on Sequenom Laboratories to provide you with clarity, allowing you to provide the most advanced information available to your patients.

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

  • 22q deletion syndrome (DiGeorge)
  • 5p (Cri-du-chat syndrome)
  • 15q (Prader-Willi/Angelman syndromes
  • 1p (1p36 deletion syndrome)
  • Trisomy 16
  • Trisomy 22

Findings of uncertain significance will not be reported.



There’s no room for maybe.

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

Palomaki9,10, Bianchi13, Norton14, Zimmermann17.


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.

Consistent with the American College of Obstetricians and Gynecologists / Society for Maternal-Fetal Medicine joint committee opinion, noninvasive prenatal testing is indicated for pregnant women at increased risk for fetal aneuploidy. The MaterniT21 PLUS test was validated with a population of pregnant women at increased risk for fetal chromosomal aneuploidies.

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

  • Advanced maternal age
  • Personal or family history of chromosomal abnormalities
  • Fetal ultrasound abnormality suggestive of aneuploidy
  • Positive serum screening test


About the test.

What does it test for?
The MaterniT21 PLUS test reports on fetal chromosomal abnormalities; from common (trisomies 21, 18 and 13) to rare (sex aneuploidies, trisomies 16 and 22, and select microdeletions), all of the information that we report is clinically relevant. Sex chromosomal aneuploidies (X and Y) are reported in singleton pregnancies only. Sex chromosomal aneuploidies and microdeletions / duplications / additional trisomies will be reported as additional findings.

What specific sex chromosomal aneuploidies does it look for?

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

What specific information is now included with the Enhanced Sequencing Series?
22q11.2 deletion syndrome (DiGeorge), Cri-du-chat syndrome (5p minus), Prader-Willi/Angelman syndrome, 1p36 deletion syndrome, Trisomy 16, and Trisomy 22.

What is the turnaround time?
The blood sample is sent to our laboratory and results are reported to you in approximately 7 business days from receipt of the sample in our 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, IVF patients -- essentially any pregnant woman at increased risk for fetal aneuploidies.

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).

Does the American College of Obstetricians and Gynecologists (ACOG) support noninvasive prenatal testing?
Yes, the ACOG Committee on Genetics and the Society for Maternal-Fetal Medicine Publications Committee issued a joint committee opinion supporting the use of noninvasive prenatal testing in pregnant women at high risk for fetal aneuploidies (Committee opinion no. 545: Noninvasive prenatal testing for fetal aneuploidy. 2012).


Prenatal provider materials.

Want to learn more about MaterniT21™ PLUS as well as all the rest of our tests?  Click on this image below to view and/or download it digitally.

Prenatal Provider Brochure


Prenatal webinars for providers

22q and You: Implementing the MaterniT21 PLUS
Enhanced Sequencing Series into your practice






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.

Our test has been validated in the largest of its kind, independently designed, analyzed, and published clinical study. Our robust data is derived from testing more than 2,800 pregnant women’s blood samples, which included 375 trisomies10 , 11 , 12. No other test comes close in terms of scale.

Moreover, we pioneered the technology and created the field. We were the first to market in October 2011, and have performed over 130,000 commercial tests to date. The MaterniT21 PLUS test remains the industry leader and most widely-used noninvasive prenatal test on the market today.

MaterniT21 PLUS Test Validation

Performance in laboratory.

The MaterniT21 PLUS test has the lowest published and commercial non-reportable results rates to date. Other noninvasive prenatal tests conceal their inaccuracies in “suspected” report results, unclear risk scores, and have high clinically published non-reportable results rates ranging from 4.6% to 12.6%.

Speed matters.

Our test is indicated for use as early as ten weeks’ gestation9. The blood sample is sent to our laboratory and results are reported to you in approximately 7 business days from receipt of the blood sample in the laboratory. This is faster than other noninvasive prenatal tests.

No test is perfect.

No test is perfect. DNA test results do not provide a definitive genetic risk in all individuals. Cell-free fetal DNA does not replace the accuracy and precision of prenatal diagnosis with CVS or amniocentesis. A patient with a positive test result should be referred for genetic counseling and offered invasive prenatal diagnosis for confirmation of test results. A negative test result does not ensure an unaffected pregnancy. The absence of an Additional Finding does not indicate a negative result. While results of this testing are highly accurate, not all chromosomal abnormalities may be detected due to placental, maternal or fetal mosaicism, or other causes. Sex chromosomal aneuploidies are not reportable for known multiple gestations. The health care provider is responsible for the use of this information in the management of their patient.


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 the skills and knowledge you need to optimize your practice.

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

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.

We obtain millions of pieces of sequence data from chromosomes across the genome. When coupled with elegant bioinformatic analysis, the raw data becomes a highly accurate and distinct clinical picture. We generate critical information and deliver it clearly. The platform is built for today and for the future.

Palomaki9 , 10, Bianchi13, Norton14, Ashoor16, Zimmermann17.


Rich content

Our 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 makes a determination for chromosomes X and Y10 , 11 , 18 , 19. Additionally, we report on fetal sex chromosomal abnormalities when observed, including X/XXY/XYY/XXX15.

We have also introduced the Enhanced Sequencing Series to report on select microdeletions and trisomies when observed, including 22q11.2 deletions, also known as 22q (DiGeorge syndrome), 5p (Cri-du-chat syndrome), 15q (Prader-Willi/Angelman syndrome), 1p (1p36 deletion syndrome), and trisomies 16 and 22.

We continue to lead the industry by introducing 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 ten weeks’ gestation.
  • Simple collection of 2x10mL whole blood in the mottled black/tan-top blood collection tubes that are provided.
  • Results turnaround on average is 7 business days from receipt of sample in our laboratory.
  • Affordable, patient-friendly billing policy and patient assistance program.

How do I get started? 





Digital test requisition form (TRF) - for your convenience.

This 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 select the ‘CONTACT US TO ORDER’ button above. If you are an international distributor, please contact us at

Sequenom Laboratories TRF