22q11.2 microdeletion

Panorama™ determines the likelihood that the fetus could be affected by chromosome abnormalities. Panorama™ sequences only those chromosomes of interest (13, 18, 21, X, and Y), using single-nucleotide polymorphisms (SNPs) as markers of abnormality. Panorama™ does not screen for all possible birth defects and genetic diseases, such as open neural tube defects.

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 microdeletions, 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. No other prenatal screen currently exists for microdeletion syndromes, and the majority of microdeletions have no family history or obvious signs on prenatal ultrasounds.

Detection rates are listed below:

While it is not the sole purpose of the test, the baby’s sex information can also be identified using Panorama™.

• Women who face a high risk pregnancy and/or who meet the following criteria:
  • 40 years of age or older at the time of delivery
  • Positive serum screen result
  • Nuchal translucency (NT) ≥ 3.5mm
  • Previous pregnancy with a chromosome abnormality
• Not appropriate for women carrying more than one baby, women who have used a donor egg or a surrogate, or those who have received a bone marrow transplant

• Panorama™ can be performed as early as 9 weeks into the pregnancy, all the way to delivery
• Results are sent to the ordering physician within 10 days of receipt of the sample at the lab in Toronto
• Timing estimates do not include time required for physician appointments, requisitions, consent signatures, sample collection, or courier/shipping times

• Provides information the health status of the pregnancy earlier
• Enables parents to better prepare for baby’s arrival
• Enables tailored care planning for mother and baby
• Reduces the number of unnecessary invasive diagnostic procedures (e.g., chorionic villus sampling (CVS) and amniocentesis)
• Detects conditions that other tests can’t, including molar pregnancy, triploidy, and vanishing twin
• Offers the highest published accuracy in determining the baby’s gender
• Facilitates more proactive, confident decision making
• Makes prenatal testing within reach of all Canadians, not just those in the high risk category

Reports are sent to physicians only. LifeLabs Genetics will not share results directly with patients. The ordering physician will receive an email or fax when results become available. Actual results are never shared via email.

Results documentation includes the following.

Panorama® Prenatal Screening Test

Results reports fall into three main categories:

• Low Risk: Indicates there is a lower than average chance that the fetus has one of the chromosome conditions that are being tested for. Sample report
• High Risk: Indicates a higher than average chance that the baby has a chromosome abnormality. Although Panorama™ has a high level of accuracy and sensitivity, it is considered a screening test, and a high risk result does not automatically mean the baby is affected. No medical management of the pregnancy or irreversible pregnancy decisions should ever be made based on a Panorama™ result alone. In the event of a high risk result, the ordering physician will be contacted by a board-certified genetic counsellor. Your healthcare provider is likely to recommend that you speak with a genetic counsellor and or maternal fetal medicine specialist. You may be offered invasive diagnostic testing, such as amniocentesis or CVS. 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. In this event, LifeLabs Genetics will contact you to arrange a new blood sample, at no charge. If a paternal cheek swab was not provided previously, it is recommended that one be collected at the second sample draw. In rare cases, Panorama is unable to provide results even after a redraw. You will be fully reimbursed in this event. Sample report

Panorama Prenatal Screening Test with Microdeletion Extended Panel

The microdeletion extended panel add-on analysis yields a report with the same low, high, or no result as the regular Panorama™ Prenatal Test, as well as risk levels for several deletion syndromes.

If the fetal sex option was selected on the requisition form, all of the above reports will include the baby’s sex.

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, mother, or due to the presence of a vanishing twin.

This test does not identify your ancestry.

Panorama™ is able to detect the following chromosomal disorders:

• 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 and/or defects of the heart or other organs. Some have other medical conditions, including hearing or vision loss. Approximately 1 in 750 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: In triploidy, 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 that survive die shortly after birth. Triploidy places the mother’s health at risk from pregnancy complications like pre-eclampsia, postpartum hemorrhage, and molar pregnancy with malignancy potential.
• Microdeletions: When small pieces of genetic information are missing within a chromosome, they are called microdeletions. Microdeletions can affect health and development and occur in collectively 1 in 1000 pregnancies. The severity of the health impact is based on which chromosome information is missing.
  • 2 deletion syndrome: The 22q11.2 deletion syndrome, also called DiGeorge syndrome or Velo-Cardio-Facial syndrome (VCFS), is caused by a missing piece of chromosome number 22. About one in every 2,000 babies is born with the 22q11.2 deletion syndrome. The majority of children with this disorder have heart defects, immune system problems, and specific facial features. Most children with 22q.11.2 deletion syndrome have mild-to-moderate intellectual disability and speech delays; some will also have low calcium levels, kidney problems, feeding problems, and/or seizures. About 1 in 5 children with the 22q11.2 deletion syndrome have autism spectrum disorder; 1 in 4 adults with 22q11.2 deletion syndrome have a psychiatric illness, like schizophrenia.
  • Prader-Willi syndrome: Prader-Willi syndrome occurs when either a small piece of chromosome 15 is missing or when both copies of chromosome 15 come from the same parent (called uniparental disomy, or UPD). Babies with Prader-Willi syndrome have low muscle tone and problems with growth and feeding. Children with Prader-Willi syndrome have delayed milestones, short stature, rapid weight gain leading to obesity, and intellectual disability. About 1 in 10,000 babies are born with Prader-Willi syndrome.
  • Angelman syndrome: Angelman syndrome happens when either a small piece of chromosome 15 is missing, or when both copies of chromosome 15 come from the same parent (called uniparental disomy, or UPD). About 1 in 12,000 babies is born with Angelman syndrome. Babies and children with Angelman syndrome have severe intellectual disability, delayed milestones, seizures, and problems with balance and walking.
  • 1p36 deletion syndrome: 1p36 deletion syndrome, also referred to as Monosomy 1p36 syndrome, is caused by a missing piece of chromosome 1. Children with 1p36 deletion syndrome have intellectual disabilities. Most have heart defects and weak muscle tone. About half of affected individuals have seizures (epilepsy), behavioral problems, and hearing loss. Some children with 1p36 deletion syndrome also have vision problems or additional birth defects of other organs. About 1 in 5,000 newborn babies has 1p36 deletion syndrome.
  • Cri-du-chat syndrome: A missing piece of chromosome 5 causes Cri-du-chat syndrome, also called 5p- (5p minus) syndrome. The name “Cri-du-chat” was given to this syndrome due to the high-pitched, cat-like cry that babies with this syndrome often make. Babies with Cri-du-chat syndrome typically have low birth weight, a small head size, and weak muscle tone. Feeding and breathing problems are common. 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 every 20,000 babies is born with Cri-du-chat syndrome.