Common Questions

Common Questions

Common Questions

Common Questions


What are my chances of having embryos with chromosome 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 with the age of the mother.

When is PGS done?

PGS 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. 

Who could benefit from 24-chromosome screening?

24-chromosome screening can be beneficial in the following scenarios:

  • Advanced maternal age (women 35 years of age or greater)
  • Repeated unsuccessful IVF cycles
  • Recurrent pregnancy loss
  • Prior pregnancy or child with a chromosome abnormality
  • Fetal gender determination (gender selection) because of risk for X-linked conditions
  • Single-embryo transfer
  • Screening of previously untested and frozen embryos

What are the benefits of Spectrum?

24-chromosome screening can be done alone or together with translocation/inversion PGD or single gene PGD when indicated.  Natera’s technology determines the parental origin of extra or missing chromosomes, can confirm that embryo biopsy samples match parent samples, and detects some chromosome errors that would be missed with other technologies (for example, 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. 

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 Spetrum preimplantion genetic testing. Please call 650-249-9090 or go online consult.natera.com to schedule a genetic information session with a board-certified genetic counselor at Natera. 

Why is knowing whether a chromosome 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.

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.

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 PGD 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 PGD 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.

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

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

Before choosing PGS, 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 chromosome rearrangement.  This does not affect that person’s health, but it increases the chance for miscarriage and for having pregnancies or children with chromosome abnormalities. 

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

What samples are required for Spectrum PGS?

Parental samples or samples from the egg and sperm donor are needed for 24-chromosome screening.  Single gene PGD often requires additional samples from other family members as well.  Parental samples can either be blood or cheek swab samples.  Samples from an egg and sperm donor could include a blood sample, cheek swab or sperm sample.

How long do PGS results take?

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

How will I know when my PGS 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.

What are my chances of getting pregnant after using Natera’s PGS?

There are several factors that influence whether or not you will become pregnant during your IVF cycle.  Selecting to transfer embryos with the correct number of chromosomes increases the chance for implantation and  reduces the chance of miscarriage.  On average, there is a 65% chance for ongoing pregnancy based on information reported by IVF centers. The data that Natera currently has on pregnancy rates following testing is reported by IVF centers and was not collected under a formal clinical study. These rates may change as more data is collected.

What is mosaicism? I've heard that mosaicism is sometimes found with 24-chromosome PGS.

Mosaicism means that some cells have a normal number of chromosomes, and some do not. With PGS testing, a biopsy of one or more cells is tested to screen embryos for chromosome abnormalities. If there is mosaicism within an embryo, it is possible that the cell(s) of an embryo biopsy sample may not be representative of the remaining cells in the embryo. Some forms of PGS have the potential to find mosaicism within an embryo biopsy sample, but no form of PGS can detect mosaicism between the cells of the biopsy and the cells of the remaining embryo. Mosaicism is not reported on Spectrum reports, but if present in a biopsy sample, it could potentially result in decreased confidence calls on the result report.

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

Although PGS and PGD are 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 is recommended for pregnancies conceived via IVF with PGD and/or PGS.  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 chromosome abnormalities without risk of miscarriage.

What are the chances there will not be any embryos with normal chromosome results to transfer to the womb?

Whether or not an embryo is transferred following testing depends on a number of factors including:

  • Number of embryos tested
  • Embryo morphology (do they develop well enough to transfer)
  • Rate of chromosome abnormalities - also called aneuploidy - (influenced by maternal age and medical history)

Based on current data, women under the age of 35 years who have four or more embryos screened have a 99% chance of having an embryo with euploid result for transfer.  For women aged 35 and older this chance typically is lower unless there are more than four embryos screened. A board-certified genetic counselor can discuss these rates in detail with you based on your maternal age prior to testing.

What is a single-gene disorder?

A single-gene disorder is a genetic condition caused by a change, or mutation, in a gene that causes that gene to not work properly. Genetic disorders are inherited and passed through families. In many cases, parents are ‘carriers’ of a mutation that does not affect their health, but puts them at risk for having a child affected with an inherited disorder. Examples of single gene conditions include Cystic fibrosis, Sickle cell anemia and Tay-Sachs disease. 

How do I know if I am a carrier for a single-gene disorder?

The American Congress of Obstetricians and Gynecologists (ACOG) recommends that all couples who are planning to become pregnant are offered carrier screening for single gene disorders. Natera offers Horizon carrier screening for single gene disorders. Even without a known family history, you may be a carrier. In fact, most people carry a few mutations that do not impact their health but could result in a genetic condition in their children. 

How do I know if PGD testing can be done for my specific genetic disorder?

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 disorder 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 disorders?

In order to do PGD for a single-gene disorder, 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 disorders in an embryo if specific mutations are not known to be present in the parent(s).

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 chromosome rearrangement talk with your doctor about ordering a test called a ‘karyotype’ which is a test that allows a picture of the the chromosomes to be visualized under a microscope. 

Who could benefit from translocation/inversion PGD?

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

Do I have to use ICSI for PGS, Translocation/Inversion PGD or Single Gene PGD?

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 PGS, Translocation/Inversion PGD, or single gene PGD. 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.

Who could benefit from single gene PGD?

Couples in which one or both partners are carriers for a specific genetic condition, and therefore at risk to have an affected child, may choose to do PGD.  Single gene PGD is performed to identify embryos that have inherited the specific gene mutation(s) carried by one or both parents.  

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

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

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 question about your results, we encourage you to schedule a complementary genetic information session with a Natera board certified genetic counselor. Please call 844-707-4621 or go online 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 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. The second page of the report lists the individualized accuracies for each chromosome call in each embryo biopsy sample. 

What is the cost of Spectrum?

To understand your financial responsibility, please call Natera at 877-869-3052.

Will my insurance cover Spectrum?

Insurance coverage for Spectrum is contingent on your health insurance plan and coverage benefits. Please call Natera at 877-869-3052 in order to verify and check your insurance coverage options.

Click here to see in-network plans.

How do I pay my bill?

Please call Natera at 877-869-3052 in order to settle your balance.

Does Natera offer payment plans for Spectrum?

Please call Natera at 877-869-3052 to check eligibility and payment plan options.


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 (877) 476-4743 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 (877) 476-4743 or go online to www.consult.natera.com to schedule a short phone appointment.  You will receive a written summary of the genetic counseling information session with your patient.

How do I begin offering Spectrum in my office?

You can contact Natera by calling (877) 476-4743 or emailing support@natera.com. You will be connected with our inside sales team who will set up an account for you. 

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 PGS only, translocation/inversion PGD or single gene PGD with PGS.  For translocation/inversion PGD, you must attach a copy of the patient’s karyotype report for review.  For single gene PGD, you must attach a copy of the genetic test results.  Missing information on the requisition form may cause a delay in turnaround time for results.

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.

Where and how should parent sample kits be stored?

Parent sample kits can be stored wherever is convenient in your practice as long as the temperature is within the range of 43-98 degrees F. Room temperature is best.

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

Once embryo biopsy samples are received at Natera, testing takes approximately 5 business days. The result report will be sent to you once testing is complete.  

What does a report look like?

Embryo biopsy samples are labeled to match the embryos that remain at your center.  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. The second page of the report lists the individualized accuracies for each chromosome call in each embryo biopsy sample.

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 chromosome 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 Translocation/Inversion PGD testing is unable to differentiate between normal chromosomes and a balanced chromosome rearrangement (since there is no chromosome imbalance). Therefore, embryos with a normal result may have the same balanced rearrangement (translocation or inversion) as the parent.

If patients are related, can we still do PGS or PGD?

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 disorder and human leukocyte antigen (HLA) type at the same time?

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

My patient is using an egg or sperm donor. Can we still do 24-chromosome PGS?

Yes, in almost all cases.  In order to do PGS, a DNA sample (blood, cheek swab or sperm) is needed from the egg or sperm provider.  The sample can be sent to Natera from your clinic or sent from a donor agency/cryobank. 

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

Natera’s Parental Support testing 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 help IVF doctors talk with couples about the best plan for future IVF cycles.

Why use spectrum preimplantation genetic screening (PGS) versus other technologies?

Spectrum is the most comprehensive testing technology available. Spectrum uses Natera’s Parental Support technology which is based on the biological principle that all of the genetic information in an embryo comes from the egg and the sperm. A SNP microarray is used to scan all 24 chromosomes in the cell or cells from the embryo. Biological parent samples are run on the same microarray platform. Embryo test results are determined by evaluating the microarray results from the embryo against the parental 'blueprint' that is created from the the biological parent samples. This process has been shown to be highly accurate across all chromosomes, including the sex chromosomes, and provides more information than other testing technologies (i.e. haploidy/polyploidy, uniparental disomy and parental origin of aneuploidies).

* Results are typically returned within 5 business days.
* Reference: Johnson, D.S. et al. 2010 Hum Repro 25 (4):1066-1075

How long has Spectrum been in use?

Spectrum has been commercially available since 2008, and has been used for thousands of patients.  Prior to commercial availability, an extensive pre-clinical validation study was conducted using the Parental Support technology utilized in the Spectrum test to prove that is was 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

What type of SNP microarray does Natera use for PGS?

Natera uses Illumina HumanCytoSNP-12 DNA BeadChips, which have 300,000 SNPs covering all 24 chromosomes.

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