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Spectrum

Proven to boost IVF success

Spectrum preimplantation genetic testing evaluates embryos for extra or missing chromosomes (PGT-A), single gene conditions (PGT-M), or structural rearrangements (PGT-SR), improving the chances of a healthy pregnancy.

Spectrum tests for chromosomal abnormalities and known inherited genetic condition(s). Sample collections include an embryo biopsy and parental blood/cheek swab. Most results will be returned to your doctor within 5-7 business days.

Patient FAQs

  • Preimplantation genetic testing overview
  • Ordering, Sample Collection & Logistics
  • Cost & Billing
  • Results & Reporting
What are my chances of having embryos with chromosomal abnormalities?

Extra or missing chromosomes can happen in any conception or pregnancy, simply by a random error in how the egg, sperm, or early embryo formed. However, the chances increase as the mother’s age increases.

Based on embryo biopsies performed at the blastocyst stage (day 5/6), the chance of producing an embryo with an abnormal number of chromosomes is up to 37% in women under 35 and over 75% for women 40 or older.*

*Data from 104,788 Trophectoderm (TE) samples screened at Natera.

Who could benefit from 24-chromosome preimplantation genetic testing for aneuploidy (PGT-A)?

24-chromosome PGT-A can be beneficial in the following scenarios:

  • Advanced maternal age (women 35 years of age or greater)
  • Embryo sex determination (sex selection) because of risk for X-linked conditions
  • Prior pregnancy or child with a chromosomal abnormality
  • Repeated unsuccessful IVF cycles
  • Recurrent pregnancy loss
  • Single-embryo transfer
  • Screening of previously untested and frozen embryos
What are my chances of getting pregnant after Spectrum PGT-A?

There are several factors that influence whether or not you will become pregnant during your IVF cycle. Selecting to only transfer embryos with the correct number of chromosomes increases the chance for implantation and reduces the chance of miscarriage. On average, 1.38 embryo transfers per patient are needed to achieve a live birth in non-egg donor PGT-A cycles.*

*Reference: Simon, Alexander L. et al. Fertility and Sterility (2018), Volume 110, Issue 1, 113–121.

What are the benefits of Spectrum?

24-chromosome screening PGT-A can be done alone or together with translocation/inversion PGT-SR or single gene PGT-M when indicated. Natera’s Parental SupportTM technology determines the parental origin of extra or missing chromosomes, can confirm that embryo biopsy samples match parental samples, and detects some chromosome errors that would be missed with other technologies (e.g., uniparental disomy). Spectrum provides personalized accuracies for each chromosome call in each embryo biopsy sample. Natera also provides complimentary pre- and post-test genetic information sessions to help you understand the testing process and your results.

Why is knowing whether a chromosomal abnormality came from the mother or the father important?

Spectrum is able to tell whether a missing or extra chromosome came from the mother or the father. This can be important when looking for patterns of chromosome abnormalities, which may suggest a chromosome rearrangement in one of the parents. Knowing if the extra or missing chromosomes came from the egg or the sperm can also help IVF doctors talk with couples about the best plan for future IVF cycles.

What is mosaicism? I've heard that mosaicism is sometimes found with 24-chromosome PGT-A.
Mosaicism means that some cells within an embryo have a normal number of chromosomes, and some have an abnormal number. With PGT-A testing, a biopsy of one or more cells is tested to screen embryos for chromosomal abnormalities. If there is mosaicism within an embryo, it is possible that the cell(s) of an embryo biopsy sample would not be representative of the remaining cells in the embryo. Some forms of PGT-A have the potential to find mosaicism within an embryo biopsy sample, but no form of PGT-A can detect mosaicism between the cells of the biopsy and the cells of the remaining embryo.

 

Mosaicism is not reported on Spectrum SNP array reports, but if present in a biopsy sample, it could potentially result in decreased confidence calls on the result report. If reporting on mosaicism is important for you, your provider may consider the Spectrum NGS test instead.

I’ve had multiple miscarriages and am now considering IVF – how do I know if PGT-A will help me?

In some studies, couples with two or more miscarriages have been found to have a higher number of embryos with chromosome abnormalities. Some studies have shown a higher rate of pregnancy, a lower chance for miscarriage, and a higher rate of live birth for couples who used PGT-A.

Before choosing PGT-A, couples who have had two or more miscarriages should talk with their doctor about having a chromosome study (karyotype analysis) to rule out a chromosome rearrangement. This can be done with a simple blood test. In about 5% of couples with more than one miscarriage, one person is found to have a balanced chromosomal rearrangement. This does not affect that person’s health, but it increases the chance for miscarriage and for having pregnancies or children with chromosomal abnormalities.

If a chromosomal rearrangement is found, Natera has a special PGT test (translocation/inversion PGT-SR) that can test embryo samples for unbalanced chromosomal rearrangements that can occur due to your specific chromosomal rearrangement.

What is a single gene condition?

A single gene condition is caused by a change, known as a mutation, in a particular gene which causes that gene to function improperly or not function at all. Single gene conditions are inherited and passed through families. Examples of single gene conditions include cystic fibrosis, spinal muscular atrophy (SMA), hemophilia, and Tay-Sachs disease. In many cases, couples are ‘carriers’ of a gene mutation that does not affect their health, but puts their children at risk of inheriting the genetic condition.

Who could benefit from PGT-M?

If you have a child or relative with a single gene condition, or if you and your partner are carriers of a single gene condition, IVF with PGT-M may be considered to reduce the chance of having an affected child. Individuals who are affected with a single gene condition can use PGT-M to avoid passing down the condition.

How do I know if I’m a carrier of a single gene condition?

Carrier screening can be done prior to starting fertility treatment to learn if you and your partner are carriers of a condition. Natera offers Horizon carrier screening for single gene conditions. Talk to your doctor about Horizon carrier screening prior to starting your IVF cycle.

Who could benefit from translocation/inversion PGT-SR?

Couples in which one partner carries a chromosomal rearrangement (translocation or inversion) are at increased risk, beyond maternal age-related risk, to have embryos with chromosomal abnormalities. Translocation/inversion PGT-SR can identify embryos that have inherited extra and/or missing chromosome material as a result of the parent chromosomal rearrangement.

Do I need to have prenatal diagnosis (CVS or amniocentesis) if I have PGT?

Although PGT is highly accurate, there is a chance for test error or undetected mosaicism in an embryo. Thus, prenatal diagnostic testing with either chorionic villus sampling (CVS) or amniocentesis should be considered for pregnancies conceived via IVF with PGT. The decision to proceed with prenatal diagnostic testing should be made between a patient and their doctor. Natera also offers Panorama, a non-invasive prenatal test (NIPT), that can be used as a first-line screen for common chromosomal abnormalities without risk of miscarriage.

Who can I talk to to learn more about Spectrum?

You can ask your doctor or a genetic counselor to learn more about preimplantation genetic testing. You can ask your doctor to refer you to a local genetic counselor, or find one in your area through the National Society of Genetic Counselors at www.nsgc.org. Natera has board-certified genetic counselors that are available by telephone to answer questions about Spectrum preimplantation genetic testing. Please call 844-778-4700 or go online to our patient portal to schedule a genetic information session with a Natera board-certified genetic counselor.

When is PGT done?

PGT testing is done during an IVF cycle. A single cell or a few cells are removed from a developing embryo several days after fertilization, and these samples are then sent to Natera for testing. The embryos themselves are frozen and remain at your IVF center.

Does the biopsy harm the embryo?

There is a small chance that an embryo biopsy may harm the embryo. This could lower the chance for pregnancy. Babies born after embryo biopsy and PGT do not have an increased rate of birth defects when compared to babies born after IVF without embryo biopsy. No other known problems with embryo biopsy or PGT have been reported at this time. However, since embryo biopsy is still a newer procedure, a small chance of increased harm cannot be ruled out.

What samples, other than embryo biopsy, are required for Spectrum PGT?

Parental samples, or samples from the egg and sperm donor are needed for 24-chromosome screening. Single gene PGT-M often requires additional samples from other family members as well. Blood or cheek swab samples are accepted. Sperm donors have the option of submitting a sperm sample instead.

Does Spectrum check to see if the embryos are actually mine?

Yes. Natera’s Parental Support technology uses genetic information from the parents and automatically confirms that the embryo samples match the parent samples. In fact, we are unable to get results if the biological parents’ samples do not match the embryo samples.

How do I know if PGT-M testing can be done for a specific single gene condition of interest?

Once Natera receives a Spectrum requisition form from your IVF doctor and a copy of your genetic test results, our board-certified genetic counselors and lab team will perform an initial assessment of your family history and of the genetic condition in your family to find out if we can develop a test for you.

Why can't Natera test embryo samples for all possible single gene conditions?

In order to do PGT-M for a single gene condition, Natera must know the exact single gene change(s), or mutation(s), carried by the parent(s). At this time, it is not possible to test for single gene conditions in an embryo if specific mutations are not known to be present in the parent(s).

Can Natera test for a single gene condition and human leukocyte antigen (HLA) type at the same time?

Yes. Natera is able to do PGT-M for HLA matching. When a couple would like to lower the chance of a single gene condition and also match HLA type with an affected sibling, PGT-M for both a single gene condition and HLA can be done at the same time.

Can Natera's testing of parent samples tell if a parent carries a balanced rearrangement?

No. Natera uses parent samples to help interpret embryo biopsy results. The samples are not used to find any health-related information on parents. If you want to know if you carry a balanced chromosomal rearrangement, talk with your doctor about ordering a test called a ‘karyotype’. A karyotype analysis can be ordered separately, through a cytogenetics laboratory, to rule out a chromosomal rearrangement.

Do I have to use ICSI for PGT-A, PGT-SR or PGT-M?

Intra-cytoplasmic sperm injection (ICSI) is when a single sperm is used to fertilize each egg in an IVF cycle. ICSI is recommended if you are doing PGT-A, PGT-SR, or PGT-M. When ICSI is not used, results can show an extra set of chromosomes caused by extra sperm. This is called sperm contamination. In these cases, we cannot be sure if the embryo itself has an extra set of chromosomes (and will therefore not result in a healthy liveborn child) or if there was sperm contamination. Since there is a chance for incorrect results when ICSI is not used, Natera recommends that you use ICSI during your IVF cycle.

What is the cost of Spectrum?

To understand your financial responsibility, please call Natera at 650-249-9090 ext. 297.

Will my insurance cover Spectrum?

Insurance coverage for Spectrum is contingent on your health insurance plan and coverage benefits. Please visit the Natera Payment Portal or call Natera at 877-869-3052 in order to settle your balance.

How do I pay my bill?

Please call Natera at 650-249-9090 ext. 297 in order to settle your balance.

Does Natera offer payment plans for Spectrum?

Please call Natera at 650-249-9090 ext. 297 to check eligibility and payment plan options.

How long do PGT results take?

Once embryo biopsy samples are received at Natera, results typically take between 5-7 business days to be sent to your doctor. Your doctor will notify you of the results.

How will I know when my PGT results are available?

You will receive your results from your doctor’s office. They may tell you the results over the phone or ask you to come into their office.

Who can I talk to about my results?

Typically, you will receive your results from the healthcare provider who ordered the test. If you have specific questions about your results, we encourage you to schedule a complimentary genetic information session with a Natera board-certified genetic counselor. Please call 844-778-4700 to schedule an appointment.

How are the results reported?

Embryo biopsy samples are labeled to match the embryos that remain at your center. The results list which embryo biopsy samples had normal (euploid) results, which embryo biopsy samples had abnormal (aneuploid) results, and also any embryo biopsy samples with no/inconclusive results.

Provider FAQs

  • Spectrum Overview
  • Ordering & Logistics
  • Sample Requirements & Shipping
  • Results & Reporting
How has Spectrum technology been validated?

Prior to commercial availability, an extensive pre-clinical validation study was conducted with the Parental Support technology utilized in the Spectrum test to prove that it was both accurate and comprehensive. The results of this study have been published in a leading medical journal.*

*Reference: Johnson, D.S. et al. 2010 Hum Repro 25 (4):1066-1075

Why choose Spectrum SNP array?

Spectrum SNP array is the most comprehensive testing technology available. SNP array testing is performed using an embryo biopsy sample with parental blood/cheek swab samples. Natera’s exclusive Parental Support bioinformatics technology is the only technology that can confirm an embryo matches parental samples.

Spectrum SNP arrays with Parental Support is highly accurate across all chromosomes, including the sex chromosomes, and it provides more information than other testing technologies (e.g., haploidy/triploidy, uniparental disomy, and parental origin of aneuploidies).*

*Reference: Johnson, DS et al. 2010 Hum Repo 25(4): 1066-1075.

Why choose Spectrum NGS?

NGS post-test reports include segmental and mosaic findings. The reports detail the size and type of deletions and duplications detected and embryos that are mosaics are placed into two buckets: low-level and high-level mosaic. Natera offers post-test genetic information sessions with board-certified genetic counselors to help your patients understand their results and best options for embryo transfer.

Why is knowing whether a chromosomal abnormality came from the mother or the father important?

Natera’s Parental Support technology is able to tell whether a missing or extra chromosome came from the mother or the father. This can be important when looking for patterns of chromosomal abnormalities, which may suggest a chromosomal rearrangement in one of the parents. Knowing if the extra or missing chromosomes came from the egg or the sperm can help IVF doctors talk with couples about the best plan for future IVF cycles.

What factors affect PGT-M accuracy?

What factors affect PGT-M accuracy?

SCENARIOPOTENTIAL PROBLEMSPECTRUM 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.
CHROMOSOMAL RECOMBINATIONChromosomal 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 chromosomal recombination, reducing false-negative and false-positive results.
DNA CONTAMINATIONMisdiagnosis 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 MUTATIONAn 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 ERRORHuman 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.
How do I begin offering Spectrum in my office?

You can contact Natera by calling 844-778-4700 or emailing spectrumsupport@natera.com. You will be connected with our inside sales team who will set up an account for you.

How do I order more kits?

You have two options:

  1. Log into NateraConnect, choose “order collection kits”, fill out the empty fields and click “submit”.
  2. Email spectrumsupport@natera.com and tell them how many kits you want and when you would like them.
How do I complete the requisition form?

Complete the patient and provider information, testing information and reason for referral section, and select the test you are requesting: 24 chromosome PGT-A only, translocation/inversion PGT-SR or single gene PGT-M with PGT-A. For translocation/inversion PGT-SR, you must attach a copy of the patient’s karyotype report for review. For single gene PGT-M, you must attach a copy of the genetic test results. Missing information on the requisition form may cause a delay in turn around time for results.

Can Natera's testing of parental samples tell if a parent carries a balanced rearrangement?

No. Natera uses parent samples to help interpret embryo biopsy results. The samples are not used to find any health related information on parents. A karyotype analysis can be ordered separately, through a cytogenetics laboratory, to rule out a chromosomal rearrangement.

Can Natera detect balanced rearrangements in embryo samples?

No. Natera’s testing detects extra or missing whole chromosomes and can detect extra or missing pieces of chromosomes in embryo samples. Natera’s PGT-SR testing is unable to differentiate between normal chromosomes and a balanced chromosomal rearrangement (since there is no chromosomal imbalance). Therefore, embryos with a normal result may have the same balanced rearrangement (translocation or inversion) as the parent.

My patient is using an egg or sperm donor. Can we still do PGT?

Yes. In order to perform SNP array PGT, a DNA sample (blood, cheek swab or sperm) is needed from the egg and sperm donor. The sample can be sent to Natera from your clinic, or sent from a donor agency/cryobank. If a sample cannot be obtained, Spectrum NGS PGT is an option.

If patients are related, can we still do PGT?

If the patient and partner or either set of their parents are related to one another by blood, Spectrum may not be able to deliver high confidence results. For these cases, an alternate testing platform should be considered.

Can Natera test for a single gene condition and human leukocyte antigen (HLA) type at the same time?

Yes. Natera is able to do PGT-M for HLA matching. When a couple would like to lower the chance of a single gene condition and also match HLA type with an affected sibling, PGT-M for both the single gene condition and HLA can be done at the same time.

What are the sample requirements for Spectrum?

Natera accepts blood or saliva for parental samples, or a sperm sample if the patient is using a sperm donor. Parental blood samples can arrive before the biopsies or at the same time. Cheek swabs must be sent one week prior to receipt of biopsies. Sperm samples can arrive with embryo biopsy samples.

How do I store collected samples before shipping?

Samples should be shipped as soon as possible. Blood and saliva samples should be stored at room temperature if shipping right away. Parental blood samples can be kept in the refrigerator for up to two weeks before sending. Sperm samples from a sperm donor can be sent with embryo biopsy samples, in which case the sperm sample should be frozen.

How long does it take to receive my patient’s results?

Once embryo biopsy samples are received at Natera, testing typically takes between 5-7 business days. The results report will be sent to you once testing is complete.

What does a Spectrum report include?

The results list which embryo biopsy samples had normal results and are therefore recommended for transfer, which embryo biopsy samples had abnormal results and are therefore not recommended for transfer, and also, any embryo biopsy samples with no/inconclusive results.

 

There are nuances between the SNP array and NGS reports. Please contact your Natera representative to learn more.

How do I log in to the NateraConnect portal to view patient results?

Please email support@natera.com and ask to be granted access to NateraConnect. You will then receive an email with login instructions. You have 72 hours to respond to the email or the temporary password will expire. If you exceed 72 hours, you can ask for a new password from support@natera.com. You must be a current user of Natera products to be able to log in to NateraConnect.
To log in at a later time, click here and enter your username and password. Once you are logged in, you can either search by patient name by typing a name into the search bar or click on the plus sign next to the ordering physician’s name to see all the patients under that physician. In NateraConnect you can see if a case is open or if results have been reported. You can see results by clicking on “View case details and report.” Results will be under “Test Results.”

How can I contact a board-certified genetic counselor if I have questions about my patient’s Spectrum results?

Board-certified genetic counselors are available to answer provider questions about Spectrum. Please call 844-778-4700 and ask to speak with the genetic counselor on call.

Does Natera provide assistance to patients in understanding their results?

Board-certified genetic counselors are available to answer patient questions about Spectrum results, after results have been disclosed by the provider. Patients may call 844-778-4700 to schedule a short phone appointment. You will receive a written summary of the genetic counseling information session with your patient.