ClariTestTM Core is a non-invasive prenatal screen (NIPS) that identifies the risk for fetal chromosomal abnormalities. ClariTest Core can be performed as early as 10 weeks gestation from a simple blood draw. Depending on the patient’s location, the courier networks, weather-related delays, etc., it may take a few days for us to receive the specimen. Once it arrives, results are usually release within five to seven days. ClariTestTM Core can be used to screen singleton and egg donor/IVF pregnancies for the common trisomies, sex chromosome aneuploidies and 22q11.2 microdeletions. Twin gestations can be screened for the common trisomies and for presence of the Y chromosome.

Conditions Included in ClariTest™ Core Screening

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 syndr
ome)11*

For more information related to conditions or services, click here.

Why screen for 22q11.2 microdeletion?

ClariTest Core offers the option to add screening for 22q11.2 microdeletion syndrome, also known as DiGeorge syndrome. DiGeorge syndrome is an autosomal dominant condition, and is the second most common genetic cause of heart defects and developmental delay, after Down syndrome.Unlike trisomies, maternal age does not increase the chance for 22q11.2 microdeletion, and more than 90% of affected individuals have no family history of the condition. 2

22q11.2 microdeletion affects as many as 1 in 1,000 pregnancies.3

The performance of the ClariTestTM Core prenatal screen for 22q11.2 microdeletion has been evaluated in the largest 22q11.2 validation study with over 1,900 hundred cases, 129 with confirmed deletions.4

Clinical Indications for ClariTest™ Core

  • Routine pregnancy screening
  • Advanced maternal age
  • Positive maternal serum screen
  • Abnormal ultrasound findings
  • History suggestive of increased risk for common chromosomal abnormalities

ACMG recommends informing all pregnant women, including women at low or average risk, that NIPS is the most sensitive screening option for trisomy 13, 18, and 21.5  ACOG and SMFM confirm that cfDNA screening (NIPS) is an appropriate choice of testing for all pregnant women, regardless of age or risk and that NIPS is the most sensitive and specific screening test for common aneuploidies.16

Proven Technology

ClariTest Core utilizes the DANSRTM platform and FORTETM algorithm, the same core technology as harmony®, which is the most widely studied cell-free DNA methodology, with over 60 peer-reviewed publications. The studies demonstrated exceptional performance in singleton and twin pregnancies and in women of any age or risk category6-13 and established the superior accuracy and reproducibility of the platform for fetal fraction assessment.14

DisorderNSensitivitySpecificity
Trisomy 21223,15599.3% (418/421)99.96% (22,724/22,734)
Trisomy 182       22,39997.4% (147/151) 99.98% (22,243/22,248)
Trisomy 13214,24393.8% (30/32)99.98% (14,208/14,211)
Monosomy X31,38194.3% (82/87)99.8% (1,291/1,294)
22q11.2 Microdeletion41,95375.2% (97/129)99.6% (1,816/1,824)
XXX/XXY/XYY/XXYY3Other sex aneuploidies will be reported if detected. Limited data of these more rare aneuploidies preclude performance calculations.

Fetal Sex: Accuracy for fetal sex (male or female) is >99%3

ClariTest Core utilizes microarray quantitation and a proprietary, targeted technology that includes both the DANSR assay and the FORTE algorithm to provide exceptionally accurate results.

DANSR: Digital Analysis of Selected Regions

  • Specifically targets the chromosomes of interest for quantification (counting), providing targeted analysis
  • Precisely measures and distinguishes fetal fraction using SNP technology
  • Eliminates extraneous data from other chromosomes and unmapped cfDNA allowing for clear test results

FORTE: Fetal Fraction Optimized Risk of Trisomy Evaluation

  • Incorporates chromosome quantification and fetal fraction adding confidence to both high-and low-risk results across all fetal fractions
  • Outperforms the Z-score approach (used by many NIPS platforms) regardless of the patient’s age or risk11
  • Distinguishes high- and low-risk results with greater discrimination11
    *z-score: a numerical measurement used in statistics of a value’s relationship to the mean (average) of a group of values, measured in terms of standard deviations from the mean.

Precise Results and Measurement of Fetal Fraction Using Microarray

  • The DANSR assay products are quantified on a microarray platform. Incorporation of microarray technology results in increased precision in both result determination and fetal fraction measurement.15
  • Utilization of microarray provides a three-fold increase in the number of SNPs assayed for fetal fraction compared to NGS, making the fetal fraction measurement more accurate and highly reproducable.15
  • ClariTest Core NIPS requires a minimum 4% fetal fraction as a quality control standard, which ensures there is enough fetal DNA present to make a highly accurate call.

 Clear, Accurate Reporting

  • Easy-to-read reports with clear graphics to make triaging patient results faster
  • High-risk results for Trisomy 21, 18, 13, Monosomy X or 22q11.2 Deletion syndrome include a positive predictive value (PPV)
  • Low-risk results include a negative predictive value (NPV)
  • Fetal fraction is included in the report

Results will be reported as high- or low-risk:

High Risk: Positive Predictive Value (PPV) will be reported if result is high risk for trisomy 21, 18, 13, monosomy X, or a 22q11.2 microdeletion in singletons

  Low Risk: Negative Predictive Value (NPV) >99% for all conditions and is reported for low-risk singleton pregnancies

ClariTest Core is a screening test. Patients receiving a high risk result are advised to seek genetic counseling, as well as to discuss diagnostic testing options. Decisions regarding the pregnancy should NOT be made based on ClariTest Core results only.

Genetic counseling support

Every patient who receives ClariTest Core from GenPath, a division of BioReference Laboratories, Inc., has the option of scheduling an in-depth counseling session with a MyGeneTeamTM genetic counselor. Learn more about Genetic Counseling through MyGeneTeam at www.mygeneteam.com.

Insurance information

BioReference Laboratories, Inc. and its division GenPath, is an in-network provider for all major national and many regional health plans, increasing your access to ClariTest Core non-invasive prenatal screening.

References

1)    McDonald-McGinn DM et al. Nat Rev Dis Primers. 2015;1:15071. doi: 10.1038/nrdp.2015.71.
2)    McDonald-McGinn  DM et al. Genet Med. 2001; 3(1):23-9.
3)    Grati FR et al. Prenat Diagn. 2015;35(8):801-809.
4)    Schmid M et al. Fetal Diagn Ther. 2018;44(4):299-304.
5) Gregg AR et al. Genet Med. 2016;18(10):1056-65.
6)    Stokowski et al. Prenat Diagn. 2015;35(12):1243-6.
7)    Jones K et al. Ultrasound Obstet Gynecol. 2018 51:274-277.
8)    Norton ME et al. Am J Obstet Gynecol 2012;207:137.e1-8.
9)    Nicolaides KH et al. Am J Obstet Gynecol.2012 Nov;207(5):374.e1-6.
10)  Gil MM et al. Ultrasound Obstet Gynecol. 2019;53(6):734–742.
11)  Gil MM et al. Fetal Diagn Ther. 2014;35:204-11.
12)  Jones K et al. Ultrasound Obstet Gynecol. 2018;51(2): 275–6.
13)  Schmid M et al. Ultrasound Obstet Gynecol. 2018;51(6):813-17.
14)  Sparks AB et al. Am J Obstet Gynecol. 2012;206:319.e1-9.
15)  Juneau K et al. Fetal Diagn Ther. 2014;36(4):282-6.
16) Rose NC et al. Am J Obstet Gynecol. 2020;136(4):e48-69.

Harmony® is a registered trademark of Roche Molecular Systems, Inc., used under license.

ClariTestTM Core TESTING

To learn more about our ClariTestTM Core testing, please visit our GenPath website. 

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