Sequenom Center for Molecular Medicine
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About the Test

The MaterniT21 PLUS test, developed and validated by Sequenom CMM, is a laboratory-developed test (LDT) that analyzes circulating cell-free DNA extracted from a maternal blood sample. The test detects an increased amount of chromosomal 21, 18, and 13 material.2, 10 

Test Method

Circulating cell-free DNA is purified from the plasma component of anti-coagulated maternal whole blood. It is then converted into a genomic DNA library for the determination of chromosome 21, 18, and 13 representation based on massively parallel genomic sequencing.3

Unique, Proven Circulating Cell-Free Fetal Nucleic Acid (ccff) Technology

  • The source of ccff DNA is thought to be from placental cells through the breakdown of fetal cells in circulation 4,5,6

  • Early studies showed ~3-6% of circulating fetal DNA in maternal plasma. Recent studies indicate it may be >10%7,8

  • Analyzes circulating cell-free DNA from maternal blood in women at increased risk for fetal chromosomal aneuploidy

  • Sequenom holds an exclusive platform-independent license for fetal nucleic acid detection in serum and plasma, branded under the name SEQureDx™ technology

Trisomy 18 and Trisomy 13

Recent published data indicate that the core technology which underlies the MaterniT21 PLUS test also has the capability to detect other aneuploidies, such as trisomy 18 and trisomy 13. If either of these aneuploidies is detected by the MaterniT21 PLUS test, Sequenom CMM will be reporting these results to the physician. The performance of the test for trisomy 18 and trisomy 13 has been clinically validated.10 

Our Test

This laboratory-developed test was developed and its performance characteristics determined by Sequenom CMM. It has not been cleared or approved by the U.S. Food and Drug Administration (FDA). Although laboratory-developed tests to date have not been subject to U.S. FDA regulation, certification of the laboratory is required under CLIA to ensure the quality and validity of the tests. This laboratory is accredited and certified to perform high complexity clinical laboratory testing.


 


Who Should Be Tested?

The MaterniT21 PLUS test was clinically validated in a population of pregnant women with increased risk for chromosomal aneuploidy, including one or more of the following2:

  • Advanced maternal age
  • Personal/family history of chromosomal abnormalities

  • Fetal ultrasound abnormality suggestive of aneuploidy

  • Positive serum screening test