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CLARITESTTM CORE NON-INVASIVE PRENATAL SCREEN

Pregnancy is an exciting time that can also be filled with questions and concerns about the health of your developing baby. While most babies are born healthy, there is always a small chance for genetic conditions to occur, regardless of age or family history. ClariTest™ Core, a non-invasive prenatal screen (NIPS), can be an important step in your prenatal care and can provide you and your healthcare provider with valuable information about your pregnancy.

ClariTest Core is a simple blood test, which can be drawn as early as 10 weeks of pregnancy and up to delivery and screens for the most common chromosomal conditions, including:

Click on a condition below to learn more

Conditions Screened for with ClariTestTM Core
Trisomy 21
(Down syndrome)1
Trisomy 18
(Edward syndrome)3
Trisomy 13
(Patau syndrome)4
Monosomy X
(Turner syndrome)5
XXY
(Klinefelter syndrome)7
XXX
(Trisomy X)8
XYY
(Jacob syndrome)9
XXYY1022q11.2 syndrome
(DiGeorge syndrome)11*
Abnormality: Trisomy 21 (Down syndrome)
Incidence: 1 in 800 live births
Clinical Features: Mild to moderate intellectual disability and, in some cases, heart defects, digestive abnormalities, and other birth defects
Life Expectancy: Average lifespan approaches 60 years2
Abnormality: Trisomy 18 (Edward syndrome)
Incidence: 1 in 5,000 live births
Clinical Features: Severe intellectual disability and life-threatening birth defects
Life Expectancy: Death often occurs in the first few days or weeks of life. Most babies do not survive past one year
Abnormality: Trisomy 13 (Patau syndrome)
Incidence: 1 in 16,000 live births
Clinical Features: Severe intellectual disability and life-threatening birth defects
Life Expectancy: Death often occurs in the first few days or weeks of life. Most babies do not survive past one year
Abnormality: Monosomy X (Turner syndrome)
Incidence: 1 in 2,500 live births
Clinical Features: Short stature, infertility, heart defects, and minor learning disabilities
Life Expectancy: Slightly shorter than average6
Abnormality: XXY (Klinefelter syndrome)
Incidence: 1 in 650 live births
Clinical Features: Tall stature, infertility, mild learning disabilities, and behavioral issues
Life Expectancy: Normal
Abnormality: XXX (Trisomy X)
Incidence: 1 in 1,000 live births
Clinical Features: Normal physical and sexual development, increased risk of learning disabilities
Life Expectancy: Normal
Abnormality: XYY (Jacob syndrome)
Incidence: 1 in 1,000 live births
Clinical Features: Tall stature, normal physical and sexual development, increased risk of learning disabilities, and behavioral issues
Life Expectancy: Normal
Abnormality: XXYY
Incidence: 1 in 18,000 live births
Clinical Features: Tall stature, infertility, mild developmental, and behavioral disorders
Life Expectancy: Normal
Abnormality: 22q11.2 syndrome (DiGeorge syndrome)
Incidence: 1 in 4,000 live births
Clinical Features: Learning problems, health concerns, and birth defects, including congenital heart defects and abnormalities of the palate
Life Expectancy: Usually normal; can be reduced depending on severity of features
*You and your healthcare provider may decide to opt-out for this condition

For more information related to conditions, click here.

References

  1. NIH U.S. National Library of Medicine: Down Syndrome
  2. National Down Syndrome Congress
  3. NIH U.S. National Library of Medicine: Trisomy 18
  4. NIH U.S. National Library of Medicine: Trisomy 13
  5. NIH U.S. National Library of Medicine: Turner Syndrome
  6. U.S. Departments of Health & Human Services: Turner Syndrome
  7. U.S. National Library of Medicine: Klinefelter Syndrome
  8. U.S. National Library of Medicine: Triple X Syndrome
  9. U.S. National Library of Medicine: 47, XYY Syndrome
  10. U.S. National Library of Medicine: 48,XXYY Syndrome
  11. McDonald-McGinn, D. M. & Sullivan, K. E. (2011). Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Medicine, 90(1), 1–18.

What is a trisomy?

Each cell of our body typically has 23 pairs of chromosomes, which are the structures that hold all of our genetic information. Developmental problems and physical birth defects can occur when a person has extra or missing chromosomes. Trisomy occurs when a person has an extra chromosome, or three copies of a chromosome instead of the usual two. Trisomies are named based on which chromosome has three copies. For example, a person with trisomy 21 has an extra copy of chromosome 21.

What are sex chromosome aneuploidies (SCA)?

The X and Y chromosomes determine an individual’s sex. Females typically have two X chromosomes and males have one X and one Y chromosome. People with SCAs have a different number of X and/or Y chromosomes. Turner syndrome, or Monosomy X, occurs when there is only one female sex chromosome, instead of the normal two in a female. Depending on the condition, SCAs can cause learning difficulties, infertility, and birth defects. In general, these conditions are milder than other trisomies.

What is a 22q11.2 microdeletion?

The term microdeletion refers to a small, missing piece of a chromosome. A 22q11.2 microdeletion indicates there is a small piece of chromosome 22 missing. A deletion in this area can cause 22q deletion syndrome, also known as DiGeorge syndrome, which is the most common genetic cause of intellectual disability and heart defects after Down syndrome.1

What are my possible ClariTest Core results?

Low risk result. This means there is a low chance for the pregnancy to have any of the conditions included in this screening test. The majority of women will receive a low-risk result.

High risk result. This means there is a high chance for a chromosomal condition in the pregnancy. Invasive prenatal tests, such as chorionic villus sampling (CVS) and amniocentesis, provide definitive diagnostic information and are recommended to confirm any high-risk ClariTest Core result.

No result is obtained. In a small percentage of cases, no result is obtained. In these instances, your provider may discuss the option for a repeat blood draw or may offer you other screening or diagnostic testing options.

It is important to remember that ClariTest Core is a screening test and, while the test is highly accurate, false positive results can occur. Likewise, rare false negative results also occur, so a low risk result does not entirely rule out the possibility of a chromosome abnormality.

Why choose ClariTest Core?

ClariTest Core is performed using the most widely studied NIPS method, with over 60 published studies demonstrating its accuracy. Greater than 99% of pregnancies with Down syndrome will be detected, and less than one in 1,000 women will receive a false positive result.2

Is ClariTest Core right for me?

This screening test can be offered as routine pregnancy screening and is recommended for pregnant women identified by their doctor to have an increased chance of a fetal chromosome abnormality. It may be an option for you to consider if you have a confirmed singleton or twin pregnancy of at least 10 weeks gestational age and meet any of the following criteria:

  • You are considered to be of advanced maternal age at time of delivery (35 years or older for a singleton pregnancy or 32 years or older for a twin pregnancy)
  • You have an abnormal or “positive” maternal serum screen
  • Your ultrasound shows concerns or abnormalities with fetal growth and/or development
  • You have a personal or family history suggestive of trisomies 21, 18, 13, or other sex-linked chromosome abnormalities

What is genetic counseling?

Genetic counseling gives you information about how genetic conditions might affect you or your family. The genetic counselor or other healthcare professional will collect your personal and family health history. They can use this information to determine how likely it is that you or your family member has a genetic condition. Based on this information, the genetic counselor can help you decide whether a genetic test might be right for you or your relative.

What if I would like to have genetic counseling?

Complimentary post-test genetic counseling is available by telephone or HIPAA secure video conferencing to help families understand their results. BioReference Laboratories, Inc. and its division GenPath have a preferred agreement with MyGeneTeamTM, a genetic counseling service dedicated to providing access to genetic counseling for all families. MyGeneTeam genetic counselors provide education and support to help families understand their test results and make informed decisions based on those results.

Please visit www.mygeneteam.com to learn more about their services.

References

  1. Rauch, et al. Am J Med Genet. 2006;140:2063-2074.
  2. Stokowski, et al. Prenatal Diagn. 2015; 35:1243-46.