THE MATERNIT21® PLUS PRENATAL TEST
Expansive answers from a simple blood test.

Overview

Empower yourself–ask your health care provider for the MaterniT21^® PLUS test.

Please print this fact sheet and bring it with you to your health care provider for discussing your prenatal options.
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It’s your pregnancy.
Demand the accuracy of the MaterniT21 PLUS 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 10 weeks’ gestation with results provided to your health care provider approximately 5 days from receipt of your sample in our laboratory.

No confusion. Just simple, clear results.

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. Please discuss your prenatal testing options with your health care provider.

In 10 weeks or less MaterniT21 Plus is the right LDT for you

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, 11q, 8q, 5p, 4p, and 1p are also available for analysis. This represents the most comprehensive information available from any noninvasive prenatal test, to date. 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.

About chromosomal abnormalities

Chromosomes are structures inside every cell of your body. They hold the genes, inherited from your mother and father, which 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, like 22q (DiGeorge syndrome), 15q (Angelman/Prader-Willi syndromes), 11q (Jacobsen syndrome), 8q (Langer-Giedion syndrome), 5p (Cri-du-chat syndrome), 4p (Wolf-Hirschhorn syndrome), and 1p36 deletion syndrome, don’t involve whole chromosomes, but small pieces of chromosomal material instead. These types of changes can cause specific traits or characteristics to occur in your unborn baby. These conditions are very rare. They can be diagnosed using an invasive 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.

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.

Simple answers to important questions

Why are some pregnancies at increased risk for chromosomal abnormalities?

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

What is Down syndrome (trisomy 21)?

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.

Patient resources
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.

What is Edwards syndrome (trisomy 18)?

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.

Patient resources
We encourage you to learn more about living with Edwards syndrome 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.

What is Patau syndrome (trisomy 13)?

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.

Patient resources
We encourage you to learn more about living with Patau syndrome 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.

What are fetal sex chromosomal abnormalities?

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.

Patient resources
We encourage you to learn more about living with fetal sex chromosomal abnormalities 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.

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