Panorama Test

What is the Panorama test?

The Panorama test is a blood test used to assess the risk of chromosomal disorders in a fetus. It is performed using a blood sample from the mother and is safe for both the mother and the fetus.

What does the Panorama test detect?

The Panorama test can identify fetal chromosomal changes such as extra chromosomes, abnormalities of sex chromosomes, or missing segments of DNA on chromosomes.

The Panorama test can detect the following trisomies (extra chromosomes):

• Down syndrome
• Edwards syndrome
• Patau syndrome

The Panorama test can detect the following sex chromosome abnormalities:

• Turner syndrome
• Klinefelter syndrome
• Trisomy X (Triple X syndrome)
• Jacobs syndrome

The Panorama test can detect the following microdeletion syndromes:

• DiGeorge syndrome (22q11.2 deletion)
• Prader–Willi syndrome
• Angelman syndrome
• Williams syndrome
• 1p36 deletion syndrome
• Cri-du-chat syndrome

How accurate is the Panorama test?

The Panorama test has very high sensitivity:

• Down syndrome: over 99% detection rate
• Edwards syndrome: 94.1%
• Patau syndrome: over 99%

The detection rate for monosomy X (Turner syndrome) is 94.7%, which is the highest among NIPT tests.

For DiGeorge syndrome (22q11.2 microdeletion), the sensitivity is 83.3%. This is a serious microdeletion syndrome that occurs independently of maternal age in approximately 1 in 1,500 pregnancies.

In addition, the Panorama test can detect rarer conditions that many other tests cannot, including molar pregnancy, triploidy, and vanishing twin syndrome.

The specificity of the Panorama test (its ability to correctly show a negative result when no condition is present) is above 99% across all tested chromosomal disorders.

Panorama is the only NIPT test that distinguishes between maternal and fetal DNA, which reduces the number of false-positive results.

When should the Panorama test be performed?

We recommend the Panorama test if:

• you want reassurance that the pregnancy is developing normally;
• OSCAR screening results show an increased risk of chromosomal abnormalities;
• there were chromosomal abnormalities in a previous pregnancy;
• chorionic villus sampling or amniocentesis is contraindicated due to risk of miscarriage;
• one of the parents carries a genetic change that may increase the risk of Down or Patau syndrome;
• there is a family history of X-linked inherited diseases.

In which pregnancies can the Panorama test be performed?

The Panorama test can be performed in:

• singleton pregnancies;
• twin pregnancies;
• singleton pregnancies conceived with a donor egg.

In which cases cannot the Panorama test be performed?

The Panorama test cannot be performed if:

• the pregnancy is less than 9 weeks;
• in twin pregnancies conceived using a donor egg;
• in twin pregnancies where one fetus has demised;
• in triplet pregnancies;
• if the mother has undergone a bone marrow transplant or stem cell therapy.

What should you know about the Panorama test?

• No referral is needed if the test is performed as a paid service.
• Results are usually available within 7–10 days.
• The Panorama test is a highly accurate screening test with a low false-positive rate; however, it is important to understand that it is a screening test, not a diagnostic test. If the Panorama test indicates an increased risk of chromosomal abnormalities, further invasive diagnostic testing is required, such as amniocentesis or chorionic villus sampling, to confirm the diagnosis. These procedures allow direct analysis of fetal chromosomes.
• The Panorama test alone is not sufficient if fetal structural abnormalities or increased nuchal translucency are detected on ultrasound.