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MaterniT21 PLUS is the first commercialized NIPT Test in the World, has been tested on  thousands of women, and extracts the most reliable results.

Description of the test

To date, the MaterniT21 PLUS laboratory-developed test is the most technologically advanced noninvasive prenatal test of its kind commercially available for detecting fetal chromosomal abnormalities. With industry-leading clinical performance, you can be confident in the results.

The test is noninvasive, requiring only a blood sample. And it can be performed as early as 9 weeks’ gestation with results provided to your health care provider about seven days from receipt of your sample in our laboratory.

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. Additionally, results are provided for fetal sex aneuploidies having  96,2% sensitivity :

  • Turner Syndrome (45,XO)
  • Klinefelter Syndrome (47,XXY)
  • Triple X Syndrome (47,XXX)
  • Jacobs Syndrome (47,XYY)

and selected microdeletions having 94,4% sensitivity:

  • DiGeorge Syndrome,
  • Prader Willi/Angelman Syndrome,
  • Cri du chat Syndrome,
  • 1p36 microdeletion Syndrome,
  • Jacobsen Syndrome,
  • Langer Giedion Syndrome
  • Wolf-Hirschhorn Syndrome

As far as concerns multiple pregnancies, MaterniT21 PLUS is the only cfDNA test  in the world that detects 13 syndromes ( the same ones as in singleton pregnancies with the exeption of sex chromosomal abnormalities) with similar sensitivities and success rates as with singletons.

We offer this test for pregnancies with advanced maternal age, personal or family history of chromosomal abnormalities, fetal ultrasound abnormality suggestive of chromosomal abnormalities and positive serum screening test.

Alternatively, there is the possibility

A) to test only Trisomies 21, 18, 13 and fetal sex at reduced cost in multiple and single pregnancies with MaterniT21 /18/13.

B) to test Trisomies 21, 18, 13, all 4 sex chromosomal abnormalities (total of 7 syndromes) and fetal sex at reduced cost in single pregnancies with MaterniT21 Base.

C) to upgrade MaterniT21 Plus to MaterniT GENOME through Sequenom’s new GENOME Flex service. Through this feature, the MaterniT21 Plus sample can be re-analyzed with the MaterniT GENOME platform, if chromosomal abnormalities are suspected later in pregnancy, at the cost of the economic difference between the two tests.

genome flex διαγραμμα αγγλ


To learn more about the MaterniT21 PLUS test, download the brochure…


MaterniT21 Plus-New Features

MAT21 plus-table new features







MaterniT21 PLUS test validation

 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. 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 350,000 commercial tests have been performed to date.

The MaterniT21 PLUS test remains the noninvasive prenatal test industry leader on the market today.

Why MaterniT21 Plus is the best NIPT test
  • The MaterniT21 PLUS test reports positive or negative results for trisomy 21, 18, and 13. For other fetal chromosomal abnormalities, we report it as an Additional Finding. This gives you and your health care provider the information and confidence you need to plan effectively. This can mean preparing medically, emotionally, and financially for the birth of a child with special needs, including arranging for delivery in a medically appropriate setting.
  • The MaterniT21 PLUS test is indicated for use as early as 10 weeks’ gestation. The blood sample is sent to our laboratory and results are reported to you in approximately 3-5 days from receipt of the blood sample in the laboratory.

  • 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. 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%.
  • 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.

Comparison with other NIPT tests

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Detection of Microdeletions
 The MaterniT21 PLUS test also offers the Enhanced Sequencing Series to report on select microdeletions and additional trisomies when observed. This represents the most comprehensive information available from any noninvasive prenatal test, to date.

Microdeletion syndromes are caused by a chromosomal deletion, or missing material from a particular chromosome.

Currently, to diagnose prenatal microdeletions a procedure such as amniocentesis or chorionic villus sampling (CVS) is required. However, these are invasive procedures that are known to carry a small risk of miscarriage.

The risk of having a baby with a microdeletion syndrome when a woman is younger than 28 years old, is higher than that of Down syndrome.
Since amniocentesis and CVS are not common practice for all pregnancies, it may be years before a child born with a microdeletion syndrome is properly identified or diagnosed with a specialty test.

During this period, families may have to take their child to multiple specialists to seek a diagnosis. This is sometimes referred to as the “diagnostic odyssey.”

These conditions are associated with profound consequences in the life and health of your child. This information can help your doctor recommend specialized and personalized care for you and your baby, before and after delivery.

Changes to these particular chromosomes are quite rare. In the infrequent occurrence where a risk is identified, the results are reported as an Additional Finding. The absence of an Additional Finding does not indicate a negative result.

The MaterniT21 PLUS report on the microdeletions and additional trisomies seen on the table:


Get an answer. The first time.

Maternit21 Plus has the lowest published failure rate of 0.9% (when competition is over 4%) and 2.4% in pregnant women weighing over 90 kg!

ζυγαριά αγγλSo it offers a very high success rate, even in pregnant women with a higher weight!

Failure to result in a cfDNA test may lead to unnecessary anxiety and / or diagnostic procedures, an issue often related to the increased mother’s weight.

MaterniT 21 PLUS has a very high success rate even in pregnant women with increased weight:

• 97.6% in pregnant women weighing between 90-102kg1

• 92.7% in pregnant women weighing over 136kg1

Some NIPTs have a success rate of only 72.5% (27.5% corresponding failure rate) in pregnant women weighing over 90kg2

1. Wardrop J, McCullough R, Boomer T, et al. Maternal weight – impact on noninvasive prenatal testing (NIPT). Clinical poster presented at ACMG Annual Meeting, Florida 2016.

2. Dar P, Curnow KJ, Gross SJ, et al. Clinical experience and follow-up with large-scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing. Am J Obstet Gynecol. 2014 Nov; 211 (5); 527.e1-527.e17. (Panorama-Natera)

The Procedure

The Procedure

Blood Test

Non-invasive prenatal test initially involves informing the pregnant woman about the advantages and limitations of it, and signing a consent form. Then we draw a small amount of blood from her arm using a vacuum system (vacutainer).

The blood is placed in a special tube containing a patented material suitable to preserve blood intact and avoid destruction of blood cells which will affect the amount of free fetal and maternal DNA in it. After careful management, the blood sample is sent to California, USA in specialized laboratories with the latest equipment for analysis.

The approach used is based on the identification and counting of large number of different DNA fragments in the plasma sample. Using a new technique called massive parallel sequencing (MPS), the exact sequence of millions of DNA fragments of the fetus and the mother is determined, and simultaneously, since the entire human sequence of our genetic material is already known, each DNA fragment that is derived, is matched with the chromosome from which it was derived.

In case of presence of a fetal aneuploidy a relative surplus or deficit of the corresponding chromosome material should be detected. Following a complex logarithmic analysis with powerful computing systems the results are issued in a simple and clear format (positive or negative) for the envisaged abnormalities.

Results Accuracy

MaterniT21 PLUS test detects 99.1% of cases of Down syndrome. Therefore, in a fetus detected with Down syndrome, the probability that the test has reported a false abnormal result is less than 1 in 1000.
The detection rate is also very high for trisomy 18 (> 99.9%), for twins (> 99.9%), and very high for sex chromosomal abnormalities (96.2%) and trisomy 13 (91.7%). These initial rates have been much improves after so many years of clinical practice.

However, 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 or an Additional Finding 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.