Spectrum Clinician Information | Natera

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What factors affect single-gene PGT-M accuracy?

Many scenarios can affect the accuracy of single-gene PGT-M and cause misdiagnosis. Natera’s Parental Support addresses these problems by using a microarray testing platform with Parental Support bioinformatics. The accuracy of Natera’s single-gene PGT-M testing is usually greater than 99%.

 

Why choose Spectrum?

All preimplantation genetic testing for aneuploidy (PGT-A) tests are not created equal. In fact, only Natera's PGT-A utilizes SNP microarray technology powered by our exclusive Parental Support™ bioinformatics. This provides more comprehensive embryo aneuploidy results.


Product features

Calculated accuracies are reported for each chromosome pair in each embryo sample; a calculated accuracy greater than 99% is typical for each chromosome call. Full 24-chromosome aneuploidy screening is performed on every sample. Spectrum also provides comprehensive detection:

  • Haploidy/Triploidy
  • Uniparental disomy
  • Parental origin of aneuploidies
  • Confirmation of correct parentage
  • Sample contamination from non-embryonic DNA
  • Large deletion/duplication detection
  • Simultaneous PGT-A and PGT-M

Product support

  • Streamlined user experience through Natera Connect, our HIPAA-compliant portal
    • Track patient test status
    • Electronically generate an embryo manifest for enhanced quality control
    • Obtain genetic counselor notes and patient results
  • Support from experienced board-certified genetic counselors available for you and your patients

New Spectrum Clinical Study

An exciting study that was designed to follow the pregnancy outcomes from more than 1,800 in vitro fertilization cycles with the use of 24-chromosome single-nucleotide polymorphism–based preimplantation genetic testing for aneuploidy (PGT-A) and euploid embryo transfer was conducted recently.

Learn More: Download Results


A unique methodology

Natera’s SNP microarray PGT-A with Parental Support offers unique benefits over other testing methods. Natera’s 24-Chromosome Aneuploidy PGT-A screens all 24 chromosomes with an accuracy that is typically at least 99%. This is significant because aneuploidy can involve any chromosome, so methods that only test some of the chromosomes or that do not detect certain types of chromosome problems are at risk of missing important genetic information. Accuracy is critical to avoid discarding normal embryos or transferring abnormal embryos.

Cross-referencing data for the best results

Spectrum is run on a 300,000 probe SNP microarray platform with Parental Support technology. Parental Support is a set of proprietary molecular and bioinformatics methods that uniquely measure single nucleotide polymorphisms (SNPs). Parental Support uses data obtained from three SNP microarrays and the Human Genome Project to calculate each embryo sample result. Our bioinformatics capabilities allow us to compute per-chromosome confidence calls to assess the chromosome constitution of each embryo sample. This method enables Natera to return highly accurate and comprehensive results for each embryo sample. Parental Support technology is the only PGT-A method that compares embryo data with parental genomic information, also incorporating data from the Human Genome Project and using sophisticated bioinformatic algorithms.

What factors affect single-gene PGT-M accuracy?

Many scenarios can affect the accuracy of single-gene PGT-M and cause misdiagnosis. Natera’s Parental Support addresses these problems by using a microarray testing platform with Parental Support bioinformatics. The accuracy of Natera’s single-gene PGT-M testing is usually greater than 99%.


Scenario

Potential problem

Spectrum solution

Allele drop-out (ADO)

With PGT-M testing, the very small amount of DNA available in the embryo biopsy sample needs to be amplified (or copied) many times to make sure that there is enough DNA available for testing. ADO occurs when one copy of a gene (or allele) amplifies and the other copy does not. This can cause a misdiagnosis. For a recessive condition, an unaffected carrier embryo could appear to be affected; for a dominant condition, an affected embryo could appear to be unaffected.

Natera evaluates many informative DNA markers—known as single nucleotide polymorphisms (SNPs)—surrounding the mutation. By evaluating a large number of linked SNPs, we are able to definitively diagnose the embryo, even if there is ADO at the mutation site.

Chromosome recombination

Chromosome recombination occurs when two copies of the same chromosome in a parent break and then reconnect to the opposite copy. Recombination is a normal occurrence that happens during the formation of the egg and sperm, but it can lead to misdiagnoses with PGT-M if it occurs near the disease gene.

Looking at linked markers throughout the chromosome enables the detection of chromosome recombination, reducing false-negative and false-positive results.

DNA contamination

Misdiagnosis can occur if non-embryonic DNA is mixed into the sample and tested by mistake.

Natera matches all embryo samples to DNA samples taken from the parents, confirming that the sample is from the embryo and that the embryos belong to those parents. This prevents misdiagnosis due to contamination or sample mix-up.

Extra or missing copies of the chromosome carrying the gene mutation

An extra or missing copy of the chromosome that contains the disease gene can lead to a misdiagnosis.

Before making a single-gene diagnosis, Natera evaluates the entire chromosome carrying the gene mutation to ensure there are exactly two copies.

Human error

Human errors can result in sample mix-ups or subjective interpretation of results.

Natera matches all embryo samples to DNA samples taken from the parents, confirming that the sample is from the embryo and that the embryos belong to those parents. This prevents misdiagnosis due to contamination or sample mix-up. Natera’s highly accurate and proprietary analysis of results with the Parental Support algorithm eliminates human interpretation error.