Non-Invasive Prenatal Testing

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NEW UPDATE (July 18 2016): Microdeletions now performed in house

As of July 18th, all Panorama samples, including microdeletions, from all provinces except B.C. will be tested by LifeLabs Genetics in Toronto, Ontario.  All B.C. samples will be rerouted by Aug. 1 2016 to LifeLabs Genetics at which point samples will no longer be sent to Natera (California) for testing.
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Update (April 27 2016): Upgrade to Panorama
On December 7th, 2015, our partner Natera launched an upgrade to the Panorama prenatal screen. The latest set of upgrades to Panorama allows us to eliminate the optional paternal cheek swab. In addition, only the maternal plasma will be analyzed and the sequencing of the maternal buffy coast will no longer be required. These changes are expected to improve the ease of use for clinics while maintaining the same accuracy. We will be transitioning to these updates now until July 1, 2016, when the cheek sample will no longer be required.
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What is the Panorama™ Prenatal Screen?

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™ analyzes fetal DNA that is circulating in the maternal blood and can be offered as early as 9 weeks of pregnancy. Results are available within 10 days.

Panorama™ is also able to screen for other conditions that involve small pieces of missing genetic information, known as microdeletion syndromes. Panorama screens for the most common microdeletion syndromes, which occur collectively in 1 in 1000 pregnancies, and include 22q11.2 deletion syndrome (DiGeorge syndrome), 1p36 deletion syndrome, Angelman syndrome, Cri-du-chat syndrome and Prader-Willi syndrome. Detection rates are listed below:

Condition Sensitivity (detection rate)
Trisomy 21 (Down syndrome) >99%
Trisomy 18 (Edwards syndrome) 96.4%
Trisomy 13 (Patau syndrome) >99%
Monosomy X (Turner syndrome) 92.9%
Triploidy/vanishing twin detection Detectable
Male >99%
Female >99%
22q11.2 deletion syndrome (DiGeorge syndrome) 95.7%
1p36 deletion syndrome / Angelman syndrome / Cri-du-chat syndrome / Prader-Willi syndrome 93.8->99%

Please find more information about Chromosome Abnormalities and Microdeletion syndromes under the section ‘Resources for Patients’

Who should consider Panorama™?

Leading professional associations in both the US and Canada have recommended that NIPT be offered to women who are considered to have an increased risk of abnormal fetal chromosomal copy number. The indications include: advanced maternal age; an abnormal serum screen; a personal or family history of aneuploidy; abnormal ultrasound findings suggestive of fetal aneuploidy. It is also strongly recommended that women receive genetic counselling on the benefits, risks and limitations of the test.

Panorama is a safe and simple way for expectant mothers to learn about the health of their baby without an invasive diagnostic procedure.

However, Panorama cannot be performed on women who are carrying multiple babies (twins, triplets, etc.), on pregnancies that used a donor egg or surrogate, or for women who have had a prior bone marrow transplant.

Video: Panorama NIPT video for Patients

How to Order

Please note that ALL fields on the requisition are mandatory. Missing information will result in a follow up call and/or fax and may result in a delay in testing.

Ontario-  Private Pay
Ordering information leaflet

  1. Physician to download and complete the requisition & consent form
    • Determine if patient meets MOH funding criteria (see  below)
    • Private Pay Requisition for patients who are not eligible for funding
    • Patient Consent Form – to be signed by the patient and retained by the physician in the medical chart
  2. Sample is collected
    • Patient has their blood drawn at any LifeLabs or CML Healthcare collection centre
    • Appointments can be made for blood collection online or by calling 1-877-849-3637
    • Private Pay patients must pay for the test at the time of blood collection (credit card or debit)
  3. Result is faxed to the ordering physician

Ontario-  MOHLTC funded

In Ontario, funding for NIPT Prenatal test is available through the Ministry of Health and Long-Term Care funding program (MOHLTC). To be eligible for funding, a patient must meet the criteria outlined on page two of the MOHLTC requisition. More details are also available on this leaflet.

If the patient is eligible for funding, please complete the same steps as for Ontario Private Pay patients (outlined above), except use the MOHLTC Funded Panorama Requisition. Additional testing of 22q11.2 and Microdeletion panel are not covered; if they are requested then patient will need to pay privately for these add-on tests as the time of collection.

British Columbia – Private Pay
Ordering information leaflet

  1. Download and complete the requisition & consent form
  2. Sample is collected
    • Appointments for blood collection are required for this test and can be made by calling toll free 1-855-412-4495
    • Patient pays for the test at the time of blood collection (credit card or debit)
  3. Result is faxed to the ordering physician

** Please note that as of March 1 2016 Panorama NIPT is no longer funded by the B.C. Prenatal Genetics Screening Program (more details)

Alberta
Ordering information leaflet

  1. Contact LifeLabs Genetics to receive a collection kit  (1-844-363-4357)
  2. Download and complete the requisition & consent form
  3. Sample is collected
    • Patients can visit any DynaLife or Calgary Lab Services location with the kit, completed requisition, test payment form and 3rd party req:
      • DynaLife Third Party requisition (must contact 1-877-702-4486 for an appointment)
      • Calgary Lab Services Third Party requisition (must contact 1-403-770-5136 for an appointment)
  4. Result is faxed to the ordering physician

Manitoba
Ordering information leaflet

  1. Contact LifeLabs Genetics to receive a collection kit  (1-844-363-4357)
  2. Download and complete the requisition & consent form
  3. Sample is collected
    • Patients can visit any Diagnostic Services Manitoba locations listed below with the kit, completed requisition, test payment form and 3rd party requisition:
      – Health Sciences Center – 820 Sherbrook Street, Winnipeg MB
      – St. Boniface Hospital – 409 Tache Ave, Winnipeg MB
      – Grace General Hospital – 300 Booth Drive, Winnipeg MB
      – Seven Oaks General Hospital– 2300 McPhillips St, Winnipeg MB
      – Victoria General Hospital– 2340 Pembina Hwy, Winnipeg MB
      – Westman Regional Lab – # 1-150 McTavish Ave E, Brandon, MB
  4. Result is faxed to the ordering physician

Quebec
Pour information et documents en Français, veuillez cliquer ici
Ordering information bilingual leaflet

  1. Contact LifeLabs Genetics to receive a collection kit  (1-844-363-4357)
  2. Download and complete the requisition & consent form
    • Requisition – to be completed by the physician and brought by the patient to their appointment
    • Patient Consent Form – to be signed by the patient and retained by the physician in the medical chart
    • Payment Form – to be completed by the patient and brought to the appointment
  3. Sample is collected
    • In Quebec, LifeLabs has an affiliation with Biron – Laboratoire Médical for blood collection.
    • Patients must book an appointment by calling: 514-866-6146, 1-800-463-7674 or 1-800-923-9222
    • Patients can visit one of the following Biron Laboratoire Médical location with the kit, completed requisition, and test payment form :
      • Biron-Guy Favreau, 200 Boulevard René-Lévesque ouest, Montréal, H2Z 1X4
      • Biron-Cabrini, 5700 St-Zotique est, Montréal, H1T 3Y7
      • Biron-Laval, 3030 Boulevard le Carrefour, Laval, H7T 2P5
      • Biron-Québec, 965, Avenue de Bourgogne, Sainte-Foy, G1W 2L4
      • Biron-Laboratoire médical, 4105 boulevard Matte, Brossard, J4Y 2P4
      • Polyclinique Médicale Fabreville Inc., 380 Boulevard Curé Labelle, Fabreville, H7P 5L3
      • Hudson Médi-Centre, 465 rue Main, Hudson, J0P 1H0
      • Biron-Terrebonne, 901 boulevard des Seigneurs, Terrebonne, J6W 1T8
      • Biron-Trois-Rivières, 109 boulevard des Récollets, Trois-Rivières, G8Z 4K4
  4. Result is faxed to the ordering physician

Other Provinces (Saskatchewan, the Maritimes & the Territories)

  1. Contact LifeLabs Genetics to receive a Panorama collection kit via FedEx & discuss collection options
  2. Download and complete the requisition & consent form
  3. Sample is collected
    • Patient will need to complete the Payment Form and submit along with the requisition and their sample
  4. Result is faxed to the ordering physician


Panorama™ Prenatal test remains the most affordable NIPT in Canada, and expectant parents will now have 3 testing options:

  • The Panorama™ Prenatal test for detection of trisomy 21, 18, 13, triploidy, and sex chromosome aneuploidies ($550, no charge for MOH eligible) – gender is optional and available at no added cost
  • The Panorama™ Prenatal test ($550, no charge for MOH eligible) + screening for 22q11.2 deletion syndrome ($195)
  • The Panorama™ Prenatal Test ($550, no charge for MOH eligible) + the Microdeletion Extended Panel* ($245)
    *Microdeletion Extended Panel screens for 22q11.2 deletion syndrome, Cri-du-chat syndrome, 1p36 deletion syndrome, Angelman syndrome, and Prader-Willi syndrome

What to Expect from Results

The test result will be available within 7-10 calendar days after the sample has reached the LifeLabs Genetics lab. The report will be sent directly to the ordering physician, who will discuss the result with the patient. LifeLabs will not provide results directly to patients. There are several possible results:

High Risk result: Indicates that there is a very high chance that the fetus has a one of the chromosome conditions being tested for. The specific risk will be listed on the report. In the event of an abnormal result, the ordering physician will be contacted by a certified genetic counsellor at LifeLabs.
Sample report

Although Panorama™ can detect >99% of babies with Down syndrome, it is considered a screening test. Therefore, decisions on medical management of the pregnancy should not be made until the Panorama result is confirmed by diagnostic testing, such as chorionic villus sampling (CVS) or amniocentesis. Genetic counselling is also highly recommended.

Low Risk result: Indicates there is a very low chance that the fetus has one of the chromosome conditions that are being tested for.
Sample report

No result: 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, referred to as the fetal fraction. In this event, LifeLabs will contact the patient directly to arrange a new blood collection, at no charge. If a paternal cheek swab was not provided previously, it is recommended that one be collected at the second draw.
Sample report

In rare cases, Panorama™ is unable to provide results even after a redraw. The patient will be fully reimbursed in this event. This guide provides a description of why a result is not possible.

Patient Guide to Results
Clinician Guide to Results

It is important to remember that Panorama does not detect all chromosome abnormalities, 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 presence of a vanishing twin. Additional reasons for false positive and negative results should be reviewed on a case per case basis with a healthcare professional.

Panorama Microdeletions Extended Panel Sample Report

What is the benefit of Panorama™ NIPT?

Panorama™ sequences only those chromosomes of interest (13, 18, 21, X, and Y) using single-nucleotide polymorphisms (SNPs). Panorama’s SNP methodology is accurate at fetal fractions (ff) as low as 4% and can be used earlier in pregnancy. Panorama™ is the only NIPT that can differentiate between maternal and fetal DNA, resulting in the highest accuracy for the chromosomes of interest. 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.

Resources for Healthcare Providers

LifeLabs’ certified genetic counsellors are available to provide support to ordering healthcare providers Email us at Ask.Genetics@lifelabs.com if you would like more information, or call 1-844-363-4357. Below are videos and informational material that you may find helpful.

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™ NIPT Patient Pamphlet in English, Hindi, Chinese and Arabic
Panorama™ NIPT Microdeletion Patient Pamphlet in English
VIDEO for Patients: Panorama™ NIPT video

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. Similar to Trisomy 18, of those babies born alive, most die before one year of age. 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. Individuals with Monosomy X are shorter than average and often have infertility as adults. 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. 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.

What are Microdeletion syndromes?

Within a chromosome, there can be small pieces of genetic information that are missing. These are called microdeletions and can impact health and development. A microdeletion syndrome is based on where the missing information is located (i.e.: on which chromosome) and its effects. Panorama can screen for the most common microdeletion syndromes, listed below. These conditions occur collectively in 1 in 1000 pregnancies.

  • 22q11.2 deletion syndrome: 22q11.2 deletion syndrome, also called DiGeorge syndrome or Velo-Cardio-Facial syndrome (VCFS), is caused by a missing piece of chromosome 22. The majority of children with this disorder have heart defects, immune system problems, and specific facial features. Most children have mild-to-moderate intellectual disability and delayed speech and language. About one in five children with 22q11.2 deletion syndrome have autism spectrum disorder and one in four adults has a psychiatric illness like schizophrenia. Approximately 1 in 2,000 babies is born with 22q11.2 deletion syndrome.
  • 1p36 deletion syndrome: 1p36 deletion syndrome is caused by a missing piece of chromosome 1. Children with 1p36 deletion syndrome have intellectual disabilities and specific physical traits. Most have heart defects and weak muscle tone. About half have seizures (epilepsy), behavioral problems and hearing loss. About 1 in 5,000 newborn babies has 1p36 deletion syndrome.
  • Angelman syndrome: Angelman syndrome is most commonly due to a small piece of chromosome 15 that is missing. Babies and children with Angelman syndrome have severe intellectual disability, delayed milestones, seizures, and problems with balance and walking. People with Angelman syndrome usually need life-long care. About 1 in 12,000 babies are born with Angelman syndrome.
  • Cri-du-chat syndrome: this condition is due to a missing piece of chromosome 5 . Babies with Cri-du-chat syndrome typically have a defining high-pitched, cat-like cry, low birth weight, a small head size and weak muscle tone. Feeding and breathing problems are common in infancy. Children with this disorder have moderate-to-severe intellectual disability, including speech and language delays. They may also have growth delays, behavior problems, and some have curvature of the spine (scoliosis). About 1 in 20,000 babies is born with Cri-du-chat syndrome.
  • Prader-Willi syndrome: Prader-Willi syndrome most commonly happens when a small piece of chromosome 15 is missing. Babies with the condition have low muscle tone and problems with growth and feeding. Affected children have delayed milestones, short stature, rapid weight gain leading to obesity, and intellectual disability. People with Prader-Willi syndrome usually need life-long care. About 1 in 10,000 babies are born with Prader-Willi syndrome.

References:

American College of Obstetricians and Gynecologists Committee on Genetics. Committee opinion no. 545: Noninvasive prenatal testing for fetal aneuploidy. Obstet Gynecol. 2012 Dec;120(6):1532-4.

Benn P, Borell A, Chiu R, Cuckle H, Dugoff L, Faas B, et al. Position statement from the aneuploidy screening committee on behalf of the board of the international society for prenatal diagnosis. Prenat Diagn. 2013 Jul;33(7):622-9.

Dar P, Curnow KJ, Gross SJ, Hall MP, Stosic M, Demko Z, et al. Clinical experience and follow-up with large scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing. Am J Obstet Gynecol. 2014 Aug 8.

Devers PL, Cronister A, Ormond KE, Facio F, Brasington CK, Flodman P. Noninvasive prenatal testing/noninvasive prenatal diagnosis: The position of the national society of genetic counselors. J Genet Couns. 2013 Jun;22(3):291-5.

Gregg AR, Gross SJ, Best RG, Monaghan KG, Bajaj K, Skotko BG, et al. ACMG statement on noninvasive prenatal screening for fetal aneuploidy. Genet Med. 2013 May;15(5):395-8.

Pergament E, Cuckle H, Zimmermann B, Banjevic M, Sigurjonsson S, Ryan A, et al. Single-nucleotide polymorphism-based noninvasive prenatal screening in a high-risk and low-risk cohort. Obstet Gynecol. 2014 Aug;124(2 Pt 1):210-8.