Panorama™ Non-Invasive Prenatal Test (NIPT)

The purpose of the Panorama™ Non-Invasive Prenatal Test (NIPT) is to screen pregnancies to determine which ones are at high risk for the  fetus to have extra or missing copies of the specific chromosomes 21, 18, 13, X or Y.

Panorama is performed on a maternal blood sample which contains DNA (genetic material) from both the mother and fetus.

It is available for women who are at least 9 weeks pregnant. The mother ‘s DNA sample is used as a comparison to the fetal DNA which allows us to return highly accurate fetal risk estimates for the condition:; listed below.

This screening test can detect over 99% of the abnormalities evaluated for chromosomes 21, 18 and 13 and about 92% of cases of Monosomy X (see list below). Your health care provider will determine if this test is appropriate for you and can provide you with more details about the chromosome abnormalities being evaluated.

NIPT Screening Tests

Trisomy 21

This is caused by an extra copy of chromosome 21 and is also called Down syndrome. This is the most common genetic cause of intellectual disability and occurs in about 1 in every 830 live births¹. Individuals with Down syndrome have an average IQ of 50 and all 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.

Trisomy 18

This is caused by an extra copy of chromosome 18 and is also called Edwards syndrome. Trisomy 18 occurs in about 1 in every 7500 live births

and causes severe intellectual disability’. Some babies with Trisomy 18 have multiple severe birth defects of the brain, heart and other organs.

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. Babies who survive have profound intellectual disabilities and growth and development problems.

Trisomy 13

This is caused by an extra copy of chromosome 13 and is also called Patau syndrome. Trisomy 13 occurs in about 1 in every 22, 700 live births and causes severe intellectual disability 1. Most babies with trisomy 13 have multiple severe birth defects of the brain and other organs. Many babies

are miscarried or stillborn . Of those babies born alive, most die before one year of age.

MonosomyX

This is caused by a missing copy of the X chromosome and is also called Turner syndrome. This only affects girls and is found In every 1 in 5000 live birthsi. 2• 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 benefit from growth hormone treatments in early childhood and usually need hormone

replacement to enter ouberty. As adults, they often have infertility.

Triploidy**

This is caused by an extra copy of all chromosomes. Abnormalities are often present in both the placenta and the fetus. It is found in about 1 in 1000 first trimester pregnancies1;  most babies with triploidy are miscarried or stillborn.  Of those rare babies born alive, most die before  one year of age. Mothers carrying a baby with triploidy can also experience various pregnancy complications such as pre -eclampsia, severe

nausea, excessive bleedin11:, and rarelv oersistent olacental disease.

Methods

Methods: Two tubes of blood are required from the mother. The samples are screened for only the chromosome abnormalities listed above. Incidental findings will not be reported.

For singleton (one baby) pregnancies, the pregnancy will be screened for Trisomy 21, Trisomy 18, Trisomy 13, Monosomy X and Triploidy..

For twin (two babies) pregnancies, the pregnancy will be evaluated for zygosity .

A zygosity test determines whether the twins are monozygotic (identical) or dizygotic (non-identical) . Depending upon zygosity, different chromosome abnormalities will be screened.

Monozygotic (identical) twins will be screened for Trisomy 21, Trisomy 18, Trisomy 13, and Monosomy X. Dizygotic (non-identical) twins will be screened for Trisomy 21, Trisomy 18 and Trisomy 13 only.

For singleton (one baby) pregnancies achieved using an egg donor or carried by a surrogate. The pregnancy will be screened for Trisomy 21, Trisomy 18, and Trisomy 13 only

Test Results Follow-up

Test Results: Your test results will be sent to the healthcare provider who ordered the test.

A ‘low risk’ result indicates a reduced chance that your  fetus has the  above listed chromosome abnormalities, but  does not guarantee normal chromosomes or a healthy baby.

A “high risk” result indicates that there is an increased likelihood your fetus has one of the chromosome abnormalities tested but does not confirm that the fetus has that abnormality.

Prenatal diagnostic testing; such as chorionic villus · sampling (CVS) or amniocentesis, or testing the baby after delivery, is recommended for confirmation, before any irreversible decision is made.

Your healthcare provider will discuss recommended follow-up steps with you, which may include referral to a specialist.

There is a chance that the sample(s) submitted will not return results or  will return  partial results;  depending upon  a variety of factors, a redraw may or  may not  be accepted. A repeat  sample  does not  always return a result. Women who do not receive a result from Panorama may be at unchanged or increased risk to be carrying a baby with a chromosome abnormality.

If your Panorama test does not return a result, you should discuss options for further evaluation with your doctor, including the availability of genetic counselling,  comprehensive  ultrasound  evaluation,  and the  option  of diagnostic testing.