Spectrum™ Preimplantation Genetic Diagnosis (PGD) for single-gene disorders

Information for Healthcare Providers

Improve your patient’s chances for a successful IVF cycle and healthy pregnancy

Natera’s Spectrum tests cells from an embryo for specific mutations for a genetic disorder in the family.

Testing can be performed on a Day 3 blastomere biopsy or a Day 5 trophectoderm biopsy sample. ICSI is required due to the risk of misdiagnosis caused by sperm contamination if conventional IVF fertilization is used. These samples are sent to Natera’s CLIA-certified laboratory in San Carlos, California and results are reported within 5 business days. A frozen embryo transfer (FET) is required.

Why Choose Natera?

Parental Support™ Technology from Natera

Parental Support™, Natera’s breakthrough technology, is the most accurate and comprehensive technology available to perform PGD. The accuracy of single-gene PGD can be affected by:

  • Allele Drop Out (ADO)
  • ADO occurs when one copy of a gene (or allele) amplifies and the other copy does not amplify. This can cause a misdiagnosis -for a recessive condition, an unaffected carrier embryo could appear to be affected or for a dominant condition, an affected embryo could appear to be unaffected.

  • Chromosome Recombination
  • 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 PGD if it occurs near the disease gene.

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

  • 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.

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

Natera’s Parental Support™ addresses these problems by using a microarray testing platform with Parental Support™ bioinformatics.

  • 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 allele drop out at the mutation site. Natera tests for more markers than any other PGD lab.
  • Looking at linked markers throughout the chromosome allows for the detection of chromosome recombination, reducing false negative and false positive results.
  • Natera matches all embryo samples to DNA samples taken from the parents, confirming that the sample is from the embryo and confirming that the embryos belong to those parents. This prevents misdiagnosis due to contamination or sample mix up.
  • Natera evaluates the entire chromosome carrying the gene mutation to make sure there are exactly two copies before making single-gene diagnosis.

Natera’s highly accurate and proprietary analysis of results with the Parental Support algorithm eliminates human interpretation error. The accuracy of Natera’s Spectrum testing is typically greater than 99%.

How to Order Natera’s Testing

PGD Testing Process

PGD Testing Process

More Information

Two different options for single-gene testing

Natera can also test for extra or missing copies of all chromosomes at the same time that single-gene PGD is performed. Natera offers two options for single-gene PGD:

  • Single-gene Testing PLUS 24-Chromosome Screening*
  • Single-gene Testing PLUS Trisomy 21 Screening

* 24-Chromosome Screening also includes testing for Trisomy 21 (Down syndrome).

Screening embryos for chromosome abnormalities may increase the chance for implantation, decrease the chance of miscarriage, and reduce the chance of having a child with a chromosome problem.

While Natera can test for single-gene disorders and aneuploidy (including Trisomy 21, or Down syndrome) at the same time, it is not possible to test for all potential causes of birth defects or genetic diseases. In order to perform PGD for a single-gene disorder, Natera must know the exact DNA mutation(s) that are responsible for the disorder in the family first.

Resources

Provider Documents

Provider Information

Publications

  • Origins and rates of aneuploidy in human blastomeres.
    Rabinowitz M, Ryan A, Gemelos G, Hill M, Baner J, Cinnioglu C, Banjevic M, Potter D, Petrov DA, Demko Z. Fertil Steril. 2012;97:395-401.
  • Comprehensive analysis of karyotypic mosaicism between trophectoderm and inner cell mass.
    Johnson DS, Cinnioglu C, Ross R, Filby A, Gemelos G, Hill M, Ryan A, Smotrich D, Rabinowitz M, Murray MJ. Mol Hum Reprod. 2010;16:944-9.
  • Preclinical validation of a microarray method for full molecular karyotyping of blastomeres in a 24-h protocol.
    Johnson DS, Gemelos G, Baner J, Ryan A, Cinnioglu C, Banjevic M, Rabinowitz M. Hum Reprod. 2010;25:1066-75.
  • Current Methods for Preimplantation Genetic Diagnosis.
    Demko ZP, Rabinowitz M, Johnson D. J. Clin. Embryology 2010;13:6-12.

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