MaterniT21™ PLUS
Knowing about your pregnancy.

We’re proud to feature MaterniT21TM PLUS
now on the Ovia Pregnancy app. We’ve partnered with Ovia to help you track your pregnancy while providing tailored first and second trimester testing information that
matters most to you. It’s free and available
now! Download the app: iTunes | Web version

It’s your pregnancy. Demand the accuracy of the MaterniT21TM PLUS Test.

To date, our MaterniT21 PLUS laboratory-developed test is the most technologically advanced noninvasive prenatal test of its kind on the market 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 ten weeks’ gestation with results provided to your health care provider about seven business days from receipt of your sample in our laboratory. 

No confusion. Just simple, clear results.

The MaterniT21 PLUS test offers a powerful glimpse into the pregnancy by evaluating relative amounts of chromosomal material. Analysis of chromosomes 21, 18, 13, X and Y, occur with every test.

The MaterniT21 PLUS test reports simple positive or negative results. This gives you and your health care provider the clarity and confidence you need to plan effectively. Please discuss all your prenatal testing options with your health care provider.

Even more answers are now available.

Your health care provider can also choose to request even more chromosomal information be evaluated. Chromosomes 22, 16, and select chromosomal regions including 22q, 15q, 5p and 1p are now available for analysis. This represents the most comprehensive information available from any noninvasive prenatal test.

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

The American College of Obstetricians and Gynecologists (ACOG) recommends that all pregnant women be offered a screening test for fetal chromosomal abnormalities, regardless of the woman’s age1. Testing may include:

  • A maternal blood test done in the first trimester along with ultrasound.
  • A maternal blood test done in the second trimester without ultrasound.
  • A combination of both1.

ACOG also recommends that invasive diagnostic testing such as chorionic villus sampling (CVS) or genetic amniocentesis for chromosome abnormalities should be made available to all women, regardless of age2. These procedures obtain tissue/cells that allow for highly accurate diagnosis of genetic variations like trisomy 21, 18 or 13. Both CVS and amniocentesis are invasive procedures and carry a small risk of causing a miscarriage.

In 2012, ACOG and the Society for Maternal-Fetal Medicine (SMFM) issued a joint committee opinion that supported noninvasive prenatal testing that uses cell-free fetal DNA for women at increased risk for having a baby with a chromosomal abnormality3. ACOG also recommended that all women considering this testing have genetic counseling to better understand their options.

About chromosomal abnormalities.

Chromosomes are structures inside every cell of your body. They hold the genes, inherited from your mother and father, that tell your body how to grow and develop. Most people have 23 pairs of chromosomes, each carrying thousands of genes. The first 22 pairs are called the autosomes, and are identical in males and females. The 23rd pair is the sex chromosomes–X and Y. Females usually have two X chromosomes, males have one X chromosome and one Y chromosome. Some people are born with an extra or missing chromosome, meaning they have three copies of a chromosome instead of two. This is known as a trisomy. The most common fetal trisomies are trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome) and trisomy 13 (Patau syndrome).

Beyond whole chromosome changes.

Some chromosome changes (see 22q11.2 deletion syndrome, Cri-du-Chat syndrome, Prader-Willi/Angelman syndrome, and 1p36 below) that happen don’t involve whole chromosomes, but small pieces of chromosome material instead. These types of changes can cause specific traits or characteristics to occur. These conditions are very rare. They can be diagnosed using a procedure called CVS or amniocentesis if there is a suspicion following other prenatal testing. Discussing with your health care provider the risk of having a baby with one of these conditions is encouraged if testing identifies a risk.


Simple answers to important questions.


Anyone can have a pregnancy with a chromosomal abnormality – mothers of all ages, races and health conditions can be at risk. 

There is nothing a parent can do to cause a chromosomal abnormality, or prevent it. However, certain risk factors can increase the chance of having a pregnancy with chromosomal abnormalities.


These include:

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

Down syndrome is a condition caused by an extra copy of chromosome 21. Children with Down syndrome have intellectual and developmental impairment. Babies with Down syndrome also have higher chances for certain health problems. Not everyone with Down syndrome is affected in the same way, and there is no way to determine before birth how a child may be affected4. Down syndrome affects about one in every 700 babies1,5. The chance of having a child with Down syndrome increases with the woman’s age, but women of all ages and races may be at risk6.

Edwards syndrome is caused by an extra copy of chromosome 18. Babies with trisomy 18 often have multiple birth defects, and many don’t survive the first few months of life. Survivors have serious health problems and typically do not walk or talk. About one in every 5,000 babies is born with trisomy 187.

Patau syndrome is caused by an extra copy of chromosome 13. These babies have multiple birth defects and often don’t survive the first few months of life. Survivors are profoundly intellectually and developmentally impaired. This condition is less common than Down or Edwards syndrome and occurs in about 1 in 16,000 babies7.

The sex chromosomes, X and Y, are associated with gender. Females typically have two X chromosomes and males have an X and a Y. Abnormalities in the number of sex chromosomes do not usually cause substantial developmental and intellectual impairment. Early diagnosis can help these children get services as needed in order to reach their full potential. Overall, about one in every 500 babies is born with a sex chromosomal abnormality8.

Most girls with Turner syndrome have only one copy of the X chromosome. Many of these pregnancies are miscarried during pregnancy. Girls with Turner syndrome are usually shorter than average, have delayed or absent puberty and may be infertile. Most have normal intelligence, but some have learning difficulties. Children with Turner syndrome may also have heart or kidney defects.

Boys with Klinefelter syndrome have two X chromosomes and one Y. These boys tend to be taller than average, may have delayed or absent puberty and are often infertile. Most have normal intelligence, but some may have learning or psychological difficulties.

Children with these conditions may be taller than average and usually have normal intelligence. A few may have learning or psychological issues. These conditions are not associated with birth defects and may go undiagnosed. People with these conditions may have normal fertility.

Trisomy 16 is one of the most common causes of miscarriage.  It is caused by an extra copy of chromosome 16.  Many pregnancies with Trisomy 16, unfortunately, do not continue to term.  In rarer instances, babies with Trisomy 16 can also have some cells with normal numbers of chromosomes.  This is called a mosaic result.  Trisomy 16 and mosaic Trisomy 16 have a significant risk for miscarriage, pregnancy complications like growth delay, and other abnormal outcomes.

Trisomy 22 is a common cause of miscarriage.  It is caused by an extra copy of chromosome 22.  Many pregnancies with Trisomy 22, unfortunately, do not continue to term.  In rarer instances, babies with Trisomy 22 can also have some cells with normal numbers of chromosomes.  This is called a mosaic result.  Mosaic Trisomy 22 also has a significant risk for miscarriage.

22q11.2 deletion syndrome, or 22q for short, is a rare chromosome change with chromosome 22.  A small piece of the chromosome is deleted, or missing.  This piece of the chromosome contains many numbers of genes.  Missing this piece of chromosome 22 causes health problems like heart defects, palate, or roof of the mouth defects, immune problems, learning delays, or other types of traits.

Cri-du-chat syndrome is a rare condition named for a unique, high-pitched cry in affected children.  It is caused by a missing piece of chromosome 5.  This is sometimes called 5p-, or 5p minus.  Cri-du-chat is French for the term, “cry of the cat”, as these children have distinctive cries.  Other symptoms, such as  poor muscle tone, difficulty with speech, and intellectual disability can occur.

A set of conditions is related to changes that take place on chromosome 15. Prader-Willi syndrome and Angelman syndrome are two conditions caused by changes occurring on chromosome 15. Most instances of Prader-Willi or Angelman syndrome are caused by a deletion of a part of chromosome 15. Depending on how the missing part of chromosome 15 was inherited can determine what kind of traits a child will have. Children are not born with both conditions.

Missing a piece of chromosome 1 can cause a condition called 1p36.  This chromosome change can result in poor muscle tone, difficulty with speech, characteristic facial appearances, and intellectual disability.


Please learn more about living with special needs.

We encourage you to learn more about living with Down syndrome and other special needs, and have provided some helpful links below.
While experiences can vary greatly, many families report happy and enriched lives as a result of thoughtful and informed preparation.

Global Down Syndrome Foundation

Klinefelter Syndrome & Associated Disorders (KS&A)

March of Dimes

National Down Syndrome Congress

National Down Syndrome Society

National Society of Genetic Counselors

SOFT USA (Society for Trisomy 13, 18 and Related Disorders)

Trisomy 18 Foundation

Turner Syndrome Society


No test is perfect.

While results of the MaterniT21 PLUS test are highly accurate, false positive and false negative results may occur in rare cases. A negative result does not ensure an unaffected pregnancy. The results of this testing, including the benefits and limitations, should be discussed with your health care provider.


To learn more about the MaterniT21 PLUS test, view and/or download any of these patient brochures.



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