Panorama - Non-invasive Prenatal Test (NIPT) 

 Why Consider Panorama™?
 Who Should Consider This Test?
 Science Behind Panorama™
 Test Method and Types of Results
 Additional Resources for Patients
 Additional Resources for Healthcare Professionals

Test at a Glance

Panorama™ is a simple, safe and highly accurate non-invasive prenatal screen for specific chromosome abnormalities including trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), trisomy 13 (Patau syndrome), monosomy X (Turner syndrome) and triploidy. Panorama™ is performed using a maternal blood sample and can be offered as early as 9 weeks of pregnancy. Results are available within 10 days.

QUICK LINKS

Patient Consent Form
BC Requisition Form
ON Requisition Form
Ontario MOH-funded Requisition
MOH Supplemental Application
Ontario Out-of Country Application Form

VIDEO: Panorama™ NIPT video for Healthcare Professionals





WEBINAR: Panorama™ Non-Invasive Prenatal Test (NIPT): Using Bioinformatics to Detect Multiple Common Chromosome Abnormalities

WEBINAR: The Explosive Growth of NIPT: Why You Should Care About Fetal Fraction


VIDEO: Panorama™ NIPT video for Patients




Why Consider Panorama™?

Panorama™ is the only NIPT that can differentiate between maternal and fetal genotypes, resulting in the highest accuracy for the chromosomes of interest, even at low fetal fraction. Other NIPT technologies use a “counting” method to determine fetal chromosomal copy number and do not differentiate between the mother’s and fetus’ DNA. At lower fetal fractions (<8%), the “counting” approach is not as accurate, particularly for trisomy 13 and sex chromosome aneuploidies. The Panorama™ method is also the only one able to detect triploidy. Panorama’s™ high sensitivity (>99%) and low false-positive rate (<0.1%) can reduce the number of unnecessary invasive diagnostic procedures, like chorionic villus sampling (CVS) and amniocentesis, which carry a risk of miscarriage.

Who Should Consider This Test?

Leading professional associations such as the American College of Obstetricians and Gynecologists (ACOG1) and the Society of Obstetricians and Gynaecologists of Canada (SOGC2) have recommended that NIPT be offered to women at increased risk of abnormal fetal chromosomal copy number. It is also recommended that women receive genetic counselling to discuss the information that Panorama™ can provide, as well as the risks and limitations of the test.

Indications for NIPT include:

  • ≥ 35 years of age at delivery
  • an abnormal serum screen
  • personal or family history of aneuploidy
  • history of a previous pregnancy with a trisomy
  • abnormal ultrasound finding suggestive of fetal aneuploidy

Studies are currently on-going to investigate the efficacy of NIPT as a screening test in low-risk populations.

1American College of Obstetricians and Gynecologists. Committee Opinion no. 545. 2012. Noninvasive prenatal testing for fetal aneuploidy. Obstet Gynecol. 120: 1532–1534.

2Society of Obstetricians and Gynaecologists of Canada, SOGC Committee Opiniowhitn. Current status in non-invasive prenatal detection of Down syndrome, trisomy 18, and trisomy 13 using cell-free DNA

Science Behind Panorama™

During pregnancy, a small amount of cell-free fetal DNA (cffDNA) enters the mother’s bloodstream. This is known as the fetal fraction (ff) and represents about 10% of the total cell-free DNA.

Panorama™ amplifies and sequences only those chromosomes of interest (13, 18, 21, X, and Y) using single-nucleotide polymorphisms (SNPs).

Using a proprietary, patented algorithm called NATUS [Next-Generation Aneuploidy Test Using SNPs], Panorama™ is able to differentiate the maternal from fetal DNA and deduce the fetal genotype. This method allows Panorama™ to report personalized risk scores with extremely high accuracy across all conditions tested.

How Does Panorama™ Compare to Other Non-Invasive Prenatal Genetic Tests in Canada?

Panorama’s™ SNP methodology is accurate at fetal fractions (ff) as low as 4% and can be used earlier in pregnancy. Quantitative counting methods experience challenges at fetal fractions below 8%, resulting in a decrease in sensitivity rates. An additional advantage to the SNP approach is that Panorama™ is uniquely able to detect triploidy which can carry risk of maternal complications such as hemorrhage and trophoblastic diseases.

Panorama™ vs. NIPT counting technologies

 COMPARISON WITH OTHER NIPTS WHICH ARE BASED ON COUNTING TECHNOLOGIES
Panorama™  Other NIPTs 

Uses more robust data – the actual DNA from the mother – to “subtract out” the mother’s cfDNA from the fetus’. Does not require use of a reference chromosome.

Do not separate out the maternal from the fetal cfDNA – they simply count the total chromosomes and compare to a reference chromosome.

 
 >99% accuracy for T21, T18, T13 at levels as low as 4% ff Up to 25% false negatives at ff of 4-8% 
 Always reports fetal fraction  Most do not report fetal fraction
 Reports sensitivity and specificity for all conditions evaluated, even Monosomy X and fetal sex  Do not report specificity for X and Y chromosomes
 Always reports risk score for Monosomy X - an aneuploidy that is more common at mid-trimester than T13, T18 and T21 combined Most companies require separate X and Y reporting when found, and do not confirm the absence of Monosomy X 
Provides every patient with a Personalized Risk Score  May include grey areas like “aneuploidy suspected"
 Identifies triploidy, a major cause of miscarriage and maternal complications Unable to detect triploidy 

How to Order Panorama™?

Panorama™ can be obtained in 3 easy steps:

  1. Speak with a healthcare provider
    • A healthcare provider will determine if Panorama™ is appropriate.
    • A healthcare provider will discuss with their pregnant patient which conditions Panorama™ screens for as well as the risks and limitations of the test.
    • The healthcare provider will complete and sign the requisition form.
      BC Requisition Form | ON Requisition Form
    • The patient and the father of the pregnancy (if he provides a cheek swab sample) must sign the consent form, which will be kept in the patient's medical chart in the physician's office.
      Patient Consent Form 
  2. Get the blood drawn
    • The patient makes an appointment for a blood collection at a LifeLabs patient service centre by calling toll free 1-855-412-4495 or 1-877-507-5595 (BC residents) or 1-877-849-3637 (ON residents). These contact numbers can also be found directly on the lab requisition form.
    • On the day of the sample collection, the patient brings the signed requisition form to the LifeLabs centre where the blood will be collected. No special preparation for the test is necessary. If the father of the pregnancy will be providing a cheek swab sample, he must not take anything by mouth for 30 minutes prior to the appointment.
    • Payment is made at the LifeLabs centre before the sample(s) is collected. Payment can be made by Visa, MasterCard or debit card.
  3. Discuss the results
    • The test result will be available within 10 days after the sample is collected. The report will be sent to the ordering physician. LifeLabs will not provide results to patients.
      • In a small number of cases, Panorama™ will not be able to provide a test result due to too little DNA from the fetus in the maternal blood sample. In this case, LifeLabs will contact the patient and give her the option of collecting another blood sample and, if he is available, collecting a cheek swab sample from the father of the pregnancy at the same time, if not already sent with the first sample.
      • In rare cases, Panorama™ is unable to provide results, even after a redraw. This guide provides a description of why this may happen. Patient Guide to Results

Test Method & Types of Results

To perform Panorama™, two tubes of blood are required from the mother. If available, a cheek swab from the father of the pregnancy is also requested, although it is not necessary. A paternal sample may help provide a test result and avoid a redraw in cases with low fetal fraction. The only test performed with this blood (and cheek swab, if submitted) is to evaluate the number of copies of chromosomes 21, 18, 13, X and Y in the fetus.

  • A "High Risk" result indicates that the test has detected a very high chance for the fetus to have an abnormal number of one (or more) of the following chromosomes: 21, 18, 13, X and Y. The specific risk will be listed on the report.
  • A "Low Risk" result means the test detected a very low chance for the fetus to have an abnormal number of one (or more) of the following chromosomes: 21, 18, 13, X and Y.
  • In rare cases obtaining results may not be possible or a sample redraw may be required. Please review the section “What Are the Test Limitations?

Sample reports of possible test results can be reviewed here

Panorama™ Microdeletions Extended Panel Sample Report

What is the Follow-Up for a Positive NIPT Result?

Although it is highly accurate, Panorama™ NIPT is a screening test. It is recommended that positive NIPT results be confirmed by diagnostic testing like chorionic villus sampling (CVS) or amniocentesis. Genetic counselling is also recommended.

What are the Test Limitations?

Panorama™ NIPT cannot be performed on patients who are carrying multiple babies (twins, triplets, etc.), on pregnancies that used a donor egg or surrogate, or on pregnancies in which the mother has had a prior bone marrow transplant. The result of this test also does not eliminate the possibility of other abnormalities of the tested chromosomes, and it does not detect abnormalities of untested chromosomes, other genetic disorders, birth defects, or other complications in the fetus or pregnancy. In rare occurrences, false positive or negative test results may occur due to mosaicism (a mixture of cells with normal and abnormal chromosomes) in the fetus, placenta or mother, or in the case of a vanishing twin.

In a small number of cases, Panorama™ NIPT will not be able to provide a test result due to too little DNA from the fetus in the maternal blood sample. In this case, LifeLabs will contact the patient and give her the option of collecting another blood sample and, if he is available, collecting a cheek swab sample from the father at the same time, if not already sent with the first sample. In rare cases, a result may still not be obtainable on a subsequent sample.

Additional Resources for Patients

As an expectant mother, you deserve the reassurance that comes from having the most accurate and comprehensive genetic information available about your baby. Panorama™ is a non-invasive prenatal screening test which gives you your personalized risk score and tells you if your baby is at low risk or high risk for certain genetic conditions such as Down syndrome, Edwards syndrome, Patau syndrome, Turner syndrome and Triploidy.

VIDEO: Panorama™ NIPT video for Patients

View Panorama™ NIPT Patient Pamphlet in English or French

View Panorama™ NIPT Microdeletion Patient Pamphlet here

Information on How to Obtain Panorama™:

  • Consult with a healthcare provider
    • Speak with your healthcare provider to find out if Panorama™ is right for you. The lab requisition form and patient consent form are available here.

      Consent Form | Requisition Form (BC) | Requisition Form (ON)

    • Your healthcare provider will go over the information provided in these forms and will select the type of testing required. Your healthcare provider will then complete and sign the requisition form. You (and the father, if he is planning to provide a cheek swab sample) will also need to sign the lab requisition form. You will also be asked to sign the consent form, which will be kept in your medical chart.


  • Get the blood drawn
    • Call our toll free number at 1-855-412-4495 or 1-877-507-5595 (if you reside in BC), or 1-877-849-3637 (if you reside in ON) to make an appointment for a blood collection at a LifeLabs location near you.
    • On the day of the collection, bring the signed requisition form to the LifeLabs Patient Service Centre (PSC) where your blood will be collected. No special preparation for the test is necessary. Payment is made before the sample collection and can be made by Visa, MasterCard or debit card.

      Note: Panorama™ NIPT is not covered by provincial health insurance plans but may be covered by extended private health plans. Contact us to find out the current fee for this test.

  • Discuss the results
    • The test result will be available within 10 days after the sample is collected. The report will be sent to the healthcare provider that ordered the test. He or she will contact you to discuss the result. In a small of number of cases, a new blood sample may be needed due to low fetal DNA in the first sample. In this event, a LifeLabs staff member will contact you directly to arrange a new collection. There is no charge for a redraw.

      In rare cases Panorama™ is unable to provide results, even on a redrawn sample. You will be fully reimbursed in this event. This guide provides a description of why this may happen.

      Note: Although highly accurate, Panorama™ is a screening test and the results, if abnormal, should be confirmed with a diagnostic test like amniocentesis. Genetic counselling is recommended.

What are Chromosome Abnormalities?

Most people have 23 pairs of chromosomes for a total of 46 — two copies of each pair. Panorama™ is highly effective in determining if there is an extra chromosome or if there is only one chromosome where there should be a pair. These are the chromosomal disorders that Panorama™ is able to detect:

Down syndrome: This is caused by an extra copy of chromosome 21 and is also known as trisomy 21. This is the most common genetic cause of intellectual disability and individuals with Down syndrome have some degree of intellectual disability. Some children with Down syndrome have defects of the heart or other organs that may require surgery or medical treatment. Some have other medical conditions including hearing or vision loss. Approximately 1 in 600 babies is born with this condition; many live into their 60s or longer.

Edwards syndrome: This is caused by an extra copy of chromosome 18 and is also known as trisomy 18. Most babies with trisomy 18 have severe intellectual disability and multiple severe birth defects. Poor growth during pregnancy is common and many babies are miscarried or stillborn. Of those babies born alive, most die before one year of age. Approximately 1 in 3,000 babies is born with trisomy 18.

Patau syndrome: This is caused by an extra copy of the chromosome 13 and is also known as trisomy 13. Babies with this condition require significant medical care because they have severe intellectual disability and birth defects. Pregnancies diagnosed with trisomy 13 are at high risk for miscarriage or stillbirth. Approximately 1 in 5,000 babies is born with trisomy 13.

Turner syndrome: This is caused by a missing copy of the X chromosome and is also called Monosomy X. The condition only affects girls. Girls with Monosomy X are shorter than average. Some girls have heart or kidney defects, hearing problems, and some have minor learning disabilities. Girls with Monosomy X may need growth hormone treatments in early childhood and usually need sex hormone treatments at the time of puberty. As adults, they often have infertility. Approximately 1 in 5,000 girls are born with monosomy X.

Triploidy: Triploidy is a condition in which the fetus has 3 copies of each chromosome instead of two (a total of 69 chromosomes rather than 46). Approximately 1 in 100 conceptions are affected with Triploidy. Most pregnancies with triploidy will miscarry in the early part of the first trimester, although later miscarriage or stillbirth can occur. The majority of those that survive die shortly after birth. Triploidy also places the mother's health at risk from pregnancy complications like pre-eclampsia, postpartum hemorrhage and molar pregnancy with the potential for malignancy.

Additional Resources for Healthcare Providers

Panorama™ screens for aneuploidies of chromosomes 21, 18, and 13 with >99% sensitivities. The test also evaluates the X and Y chromosomes. The sex of the fetus is available at no additional cost.

Using a targeted SNP approach, Panorama™ yields highly accurate calls across all conditions screened. Panorama™ is also the only test with the ability to detect triploidy.

Panorama™ results come in the form of a personalized risk score enabling physicians to manage follow-up specific to each patient.

VIDEO: Panorama™ NIPT video for Healthcare Professionals

View Panorama™ Physician Pamphlet in English or French

WEBINAR: Panorama™ Non-Invasive Prenatal Test (NIPT): Using Bioinformatics to Detect Multiple Common Chromosome Abnormalities

View white paper that describes NIPT and Panorama's™ approach

Panorama™ Non-Invasive Parenatal Screening For Microdeletion Syndromes - White Paper

Information on How to Order Panorama™:

  • Review the consent form with your patient and have the patient sign it. This form will remain in your office as a part of the patient record.
  • Fill out and sign the Requisition form Ontario or Requisition form BC. The patient (and if he is planning on providing a cheek swab sample) must also sign the requisition form.
  • Instruct the patient to make an appointment at a convenient LifeLabs patient service centre by calling 1-855-412-4495 or 1-877-507-5595 (BC) or 1-877-849-3637 (ON) to have their blood drawn. These telephone numbers are also located on the lab requisition.

    NIPT is not currently covered under provincial health plans. The patient will be responsible for the cost of the test. To find out the current price for Panorama™, please call LifeLabs at 1-855-412-4495 or 1-877-507-5595 (BC) or 1-877-849-3637 (ON). The patient will pay for the test at the LifeLabs centre prior to sample collection. Payment can be made by debit or credit card.

  • Results will be sent to the ordering physician within 10 days after sample collection. In the event of an abnormal result, the ordering physician will be contacted by LifeLabs. Report supplements for each of the conditions screened are available. The physician can provide this to the patient as an aid during the discussion of the abnormal test result.
  • Abnormal results should be confirmed through diagnostic testing like CVS or amniocentesis. Genetic counselling is also recommended.

In rare cases Panorama™ is unable to provide a result. This guide provides a description of why this may happen. Clinician Guide to Results

Healthcare Provider Support

LifeLabs’ genetic counsellors are available to provide support to ordering healthcare providers by answering questions and discussing abnormal results. Send us an email at contactus@lifelabs.com if you would like more information.