Panorama® prenatal screening

Panorama® prenatal screening

Information for pregnant women - because knowledge is reassuring.
Get essential genetic information about your baby as early as nine weeks into your pregnancy with the Panorama prenatal screening test, now available in partnership with NewGene Limited.

What is Panorama®?

  • Panorama screens for genetic abnormalities
  • It determines the baby’s sex
  • The test is carried out in a single, in-office visit
  • There is no risk for your baby.

Panorama is a non-invasive pre-natal screening test (NIPT), a highly accurate DNA test that can tell you important information about your pregnancy, as early as nine weeks after conception. All living things contain DNA, which carries their genetic information - the 'instructions' which control how they grow and develop. In human beings, DNA is organized in structures known as chromosomes.

Sometimes during pregnancy problems develop with the chromosomes. This can lead to extra copies of chromosomes being present, or to sections of chromosomes becoming lost. These problems can have significant effects on the health and development of affected babies. With Panorama, you can find out the likelihood of your baby having a chromosomal abnormality, such as Down’s syndrome or other related conditions. If you choose you may also find out the sex of your baby. And all that’s required is a simple sample of your blood.

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Is Panorama® right for me?

Many pregnant women want to know about the health of their baby. If you would like information about your baby’s health, talk with your healthcare provider. He or she will advise you as to what tests you might want to have to help give you peace of mind.

According to the International Society for Prenatal Diagnosis, non-invasive prenatal testing, including Panorama, is appropriate as a primary screening test for pregnant women of all ages. Although Down’s syndrome and certain other chromosomal conditions occur more frequently in babies born to mothers over 35 years old, some conditions for which Panorama screens – such as microdeletion syndromes – occur with the same frequency in babies, regardless of the mother’s age. This means all pregnant women, regardless of their age or family reproductive history can benefit from this type of testing.

The Panorama prenatal screen is designed for women of any age and ethnicity who are at least 9 weeks pregnant. It cannot currently be used by women who are carrying more than two babies (i.e. triplets or more), women who are carrying twins conceived using a donor egg or a surrogate, in cases where there is a vanishing twim or by women who have received a bone marrow or organ transplant.

What does Panorama® screen for?

Using advanced bioinformatics techniques, Panorama screens for a broad panel of chromosomal conditions with high sensitivity and the lowest false-negative rate (failure to detect a condition which is present) of any similar NIPT.  If you choose, Panorama can also tell you the sex of your baby with the highest accuracy of any currently available NIPT.

Panorama detects the following conditions with the sensitivity shown (determined in clinical trials):

Trisomy 21  >99.9% sensitivity: This is caused by an extra copy of chromosome 21 and is also called Down’s syndrome. This is the most common cause of intellectual disability. It may also cause certain birth defects of the heart or other organs and may cause hearing or vision problems.

Trisomy 18  >96.4% sensitivity: This is caused by an extra copy of chromosome 18 and is also called Edwards’ syndrome. This causes severe intellectual disability. It also causes serious birth defects of the heart, brain and other organs. Babies with Edwards’ syndrome usually pass away before reaching one year of age.

Trisomy 13  >99.9% sensitivity: This is caused by an extra copy of chromosome 13 and is also called Patau syndrome. This causes severe intellectual disability and many serious physical defects. Babies with Patau syndrome usually pass away before one year of age.

Triploidy  >99.9% sensitivity: This condition is caused by having an extra set of all 23 chromosomes (for a total of 69 rather than the normal 46) and is associated with severe birth defects. A triploid pregnancy can cause serious complications for the mother, such as excessive bleeding after delivery and a risk of developing cancer. Babies with triploidy rarely survive until birth and those that do usually pass away within a few months after delivery. It is important for the doctor to know about triploidy even if the mother miscarries so that she can be monitored for complications.

Monosomy X  >92.9% sensitivity: This is caused by a missing X chromosome and affects only girls. It is also called Turner’s syndrome or 45, X. Girls with Monosomy X may have heart defects, hearing problems, minor learning disabilities and are usually shorter than average. As adults, they are often infertile.

Klinefelter syndrome  >99.9% sensitivity: This is caused by an extra copy of the X chromosome, is also known as 47, XXY and only affects boys. Boys with Klinefelter syndrome may have learning disabilities and tend to be taller than average.  Most men with this condition are infertile.

Triple X syndrome  >99.9% sensitivity: This is caused by an extra copy of the X chromosome, is also known as 47, XXX and only affects girls. Some girls with triple X syndrome have learning disabilities, some have emotional problems and most are taller than average.

XYY syndrome  >99.9% sensitivity: This is caused by an extra copy of the Y chromosome, is also known as 47, XYY and only affects boys. Boys with this condition tend to be taller than average and may have associated mild learning and behavioral difficulties.

Panorama also screens for five microdeletion syndromes.

What are microdeletions? Which ones does Panorama® screen for?

A small, missing (or "deleted") piece of a chromosome is called a microdeletion. Unlike Down’s syndrome, which occurs more frequently in mothers who are 35 and older, microdeletions occur in pregnancies at the same rate for mothers of any age.

In many cases there are no obvious physical abnormalities that can be detected by ultrasound examination which suggest the fetus has a microdeletion. While many microdeletions have little impact on a child's health and life, there are some that can cause intellectual disabilities and birth defects. Panorama screens for five microdeletions, all of which can be associated with serious health issues:

22q11.2 deletion / DiGeorge syndrome  >95.7% sensitivity:

Babies born with 22q11.2 deletion syndrome often have heart defects, immune system problems and mild-to-moderate intellectual disability. They may also have kidney problems, feeding problems and/or seizures. Up to 25% of individuals with this syndrome develop schizophrenia in adulthood.

1p36 deletion syndrome  >93.8 - >99.9% sensitivity:

Babies born with 1p36 deletion syndrome have weak muscle tone, heart and other birth defects, intellectual disabilities, hearing loss and behavioral problems.

Angelman syndrome  >93.8 - >99.9% sensitivity:

Babies born with Angelman syndrome often have delayed developmental milestones (such as sitting, crawling and walking), seizures and problems with balance and walking. They also have severe intellectual disability and most do not develop speech.

Cri-du-chat syndrome  >93.8 - >99.9% sensitivity:

Babies born with Cri-du-chat syndrome typically have low birth weight, small head size and decreased muscle tone. Feeding and breathing difficulties are also common. They have moderate-to-severe intellectual disability.

Prader-Willi syndrome  >93.8 - >99.9% sensitivity:

Babies born with Prader-Willi syndrome have low muscle tone and problems with feeding and gaining weight. They also have intellectual disability. As children and adults, they have rapid weight gain and often develop obesity-related medical problems.

How does the Panorama® prenatal screen work?

During pregnancy, some of the DNA from the placenta and baby crosses into the mother’s bloodstream. 

Panorama analyses the small amount of the baby’s DNA which is present in the mother's blood for certain chromosomal conditions which could affect the baby’s health. It is a non-invasive test, which means Panorama is safe for you and your baby. To have the test done, your healthcare provider simply takes a sample of blood from your arm. This is then sent to a lab for processing and a report describing the risk of your baby being affected by a chromosomal condition returned to your healthcare provider for them to discuss with you.

What are the alternatives to the Panorama® prenatal screen?

Panorama is not the only screening test available during pregnancy. Older screening tests that measure hormones in a pregnant woman’s blood (called maternal serum screening tests) can also tell you if there is a high chance your baby has a chromosomal condition, such as Down’s syndrome. Maternal serum screening tests are less accurate than Panorama*. This means that serum screening tests are more likely than Panorama to miss certain chromosomal conditions and more likely than Panorama to indicate the presence of an abnormal chromosomal condition when none actually exists.

Panorama is a screening test; it is not a diagnostic procedure. This means that test results from Panorama only alert you of the likelihood that your baby has a chromosomal condition. To diagnose the baby – and know with certainty if the baby has a chromosomal condition – invasive diagnostic tests, such as chorionic villus sampling (CVS) or amniocentesis, can be performed. Both of these tests have risks, including the small chance of miscarriage.

Speak with your healthcare provider if you have more questions about your testing options.

*Bianchi E, et al. DNA Sequencing versus Standard Prenatal Aneuploidy Screening N Engl J Med 2014; 370:799-808

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