Panorama test: chromosomes 13, 18, 21, X and Y, triploidy, Di George syndrome and four microdeletions

Prenatal genetic testing - Panorama test

The Panorama test is a non-invasive, safe, screening prenatal test. It helps determine the risk of common genetic defects caused by extra or missing chromosomes in the baby's DNA:

1. Down syndrome (trisomy 21)
2. Edwards syndrome (trisomy 18)
3. Patau syndrome (trisomy 13)
4. Triploidy*
5. Sex chromosome abnormalities:

• Turner syndrome (monosomy X)
• Klinefelter syndrome (XXY)
• Jacobs syndrome (XYY)
• Triple X syndrome (XXX).

*Triploidy is a chromosomal abnormality very often leading to fetal demise, associated with severe birth defects and pre-eclampsia. Births are extremely rare.

In addition to chromosomal changes, the test determines the risk of relatively common genetic abnormalities, known as microdeletions. A microdeletion is the absence of a very small part of a chromosome. Some microdeletions have little effect on the health and life of the child, but there are some that can cause mental disabilities and birth defects. 

Microdeletions occur during pregnancies with the same frequency regardless of the mother's age.

The Panorama test can determine the risk of 5 microdeletions associated with serious health problems:

• 22q11.2 deletion syndrome (DiGeorge)
• 1p36 deletion syndrome
• Angelman syndrome
• Prader-Willi syndrome
• cat cry syndrome. 

Panorama test - when to perform?

The test can be performed after the end of the 9th week of pregnancy, until the day of delivery.

Before performing the Panorama test, it is necessary to perform an ultrasound focused on assessing the number of fetuses and gestational age, so it is recommended to perform the Panorama test after the first prenatal ultrasound (11th-14th week of pregnancy).

In a small percentage of cases, it may not be possible to obtain enough information from a blood sample to determine an accurate result. In this case, it may be necessary to take a second blood sample. This happens more often with pregnancies in obese patients.

The test is intended for pregnant women, regardless of age, except in the case of:

• multiple pregnancies,
• necrosis of one of the twins,
• twins conceived with the help of a surrogate or egg donor,
• pregnancy after a bone marrow transplant,
• less than 6 months after a blood transfusion,
• before the end of the 9th week of pregnancy.

You may want to consider taking the Panorama test after consulting with your pregnancy doctor to make an informed decision.

Is the Panorama test the same as the PAPP-A test?

No. The Panorama test examines the fractions of fetal DNA present in the mother's blood, while the PAPP-A test is based on an assessment of the levels of PAPP-A protein, the free β-hCG subunit and the nuchal translucency image seen on ultrasound. The Panorama test can be the next step in fetal diagnosis when the risk in the Pappa test is between 1:100 and 1:1000.

Additional information

The Panorama test is a genetic, non-diagnostic test, that is, it does not determine the occurrence of a genetic disease in the child, but assesses the risk of its occurrence. The test is based on examining the fraction of fetal DNA that is present in the mother's bloodstream. The blood sample taken is analyzed to see if there are genetic changes that could affect the baby's health.

The Panorama test is complementary to first trimester pregnancy screening, including ultrasound, which should be performed according to the recommendations of the Polish Gynecological Society.

Prenatal testing - why Panorama test with microdeletion panel?

• The test is non-invasive, safe, risk-free for the course of pregnancy and poses no risk to your baby.
• The test provides information about your baby's risk of the diseases that the test examines.
• The test can be performed after the 9th week of pregnancy.
• The test finds most chromosomal defects. It is the only one that makes it possible to distinguish free extracellular fetal (placental) DNA from maternal DNA.
• The result is obtained within 10 working days.
• Thanks to the use of a unique technology to distinguish between the DNA of the baby and the DNA of the mother, the results are reliable. Compared to other tests of this type, a lower rate of false results is obtained. The Panorama test detects the risk of more genetic variations than the PAPP-A test.

Scope:

Microdeletion syndrome is unavailable for twins and oocyte donor pregnancies.

Panorama test + microdeletion syndrome - a test that assesses the risk of chromosomal anomalies and an expanded panel of microdeletions (DiGeorge syndrome + 4 microdeletions).

Do you have doubts or questions? Use our hotline (22 566 22 22)

Prenatal testing - how to perform?

To perform the test, a referral and a patient consent form are needed. Both are issued and filled out by the doctor in charge of the pregnancy.

After purchasing the test, the patient with the completed documents goes to the blood draw during the collection center's working hours. You are welcome to come to the intake with an ID card or other document proving your identity.

Waiting time for the result is 10 working days. The results come in paper form and are picked up by the patient at the Result Dispensing Point. 

A consultation with a gynecologist is encouraged to discuss the result.