NIPT: Panorama Test

Panorama uses SNP*-based technology to deliver highly accurate results and unique insights for both singleton and twin pregnancies (please see table with specificity, sensitivity, and positive predictive values for each condition).

Panorama is a screening test, which means that this test does not make a final diagnosis. A high-risk result means that your pregnancy has a higher chance of having a specific genetic condition. However, you cannot know for sure if your baby has that condition based upon the screening result alone. All medical decisions should be made with your consultant Obstetrician and/or consultant fetal medicine doctor regarding diagnostic testing during the pregnancy, like chorionic villus sampling (CVS) or amniocentesis, or testing the baby after birth.

Most of us have a normal complement of chromosomes, this being 46 in total, made up of 23 pairs. In trisomy, there is an additional copy of a particular chromosome, resulting in a total of 47 chromosomes. The most frequently occurring trisomy is trisomy 21, more commonly known as Down syndrome. Other trisomies include trisomy 18 and trisomy 13, known more commonly as Edwards’s and Patau Syndrome, respectively.

• Trisomy 21 is found in around 1 in 700 births and the risk of having a baby affected by trisomy 21 increases with advancing maternal age. The condition is associated with learning disability and some structural problems within the baby’s major organs, most commonly heart abnormalities. The life expectancy is around 60 years.
• Trisomies 18 and 13 are found in around 1 in 7,000 births and the risk of having a baby affected by one of these trisomies also increases with advancing maternal age. These conditions are associated with severe learning disability and multiple physical abnormalities. Most affected babies die before or soon after birth, and rarely survive beyond the first year of life.

Panorama is most commonly used to estimate the likelihood of your baby having Down’s Syndrome, Edward’s Syndrome, Patau’s Syndrome and Triploidy. This is the Aneuploidy panel, but we also offer another two panel: The Aneuploidy+ 22q11.2 deletion panel and the Aneuploidy plus full microdeletion (MD) panel:

Aneuploidy + 22q11.2 Deletion Panel:

The Panorama Test also offer screening for the microdeletion 22q11.2 deletion. There are concerns that there is not enough evidence to support screening for this chromosomal condition. The positive predictive value of the condition is much lower than for T21, T18 and T13. Therefore, a low probability result does not guarantee that is a baby is unaffected and some babies with 22q11.2 deletion may receive a Low Probability test result. Additionally, some babies without 22q11.2 deletion may receive a test result of a High Probability leading to unnecessary invasive diagnostic testing that can increase the risk of miscarriage. Please not 22q11.2 deletion panel is not available for twin or donor egg pregnancies.

Aneuploidy + Full Microdeletion Panel:

Panorama NIPT offers screening for 4 additional microdeletions: Prader-Willi Syndrome, Angelman Syndrome, 1p36 Deletion Syndrome and Cri-du-chat Syndrome. As in the case of 22q.11.2 deletion there are concerns that there is not enough evidence to support screening for these rare chromosomal conditions. Please note microdeletion screening is not available for twin or donor egg pregnancies.

The only way to know for sure whether or not a baby has a chromosome abnormality is to have an invasive test such Chorionic Villus Sampling (CVS) or amniocentesis. Invasive testing gives very accurate results because genetic material obtained directly from the pregnancy is used for analysis. However, as these procedures involve inserting a needle into the womb to obtain genetic material, they carry a small but significant risk of causing a miscarriage (1%).

NIPT is a screening test and therefore in rare circumstances positive and negative results can be inaccurate. The test will detect up to 99% of babies affected by Down, Edwards’s or Patau syndrome. A false positive result occurs in less than 0.3% of cases (1:300). This is significantly better than traditional screening tests which have a detection rate of 75-95% for a false positive rate of 3-5%.

This means that women choosing NIPT will benefit from a test that detects a greater proportion of babies affected by chromosome abnormalities, and women will be less likely to require an invasive test (which carries a 1% chance of miscarriage) following screening.

If the Panorama test shows there is a high chance that the fetus has trisomy 21, 18, 13, Triploidy or one of the microdeletions, it does not mean that the fetus definitely has one of these defects. If you want to be certain you should have a CVS or amniocentesis. One of our consultants in Fetal medicine will discuss the options with you in detail.

If the Panorama test shows that there is a low chance that the fetus has trisomy 21, 18, 13, Triploidy or one of the microdeletions, then it is unlikely that the fetus has one of those conditions.

The results from the test will generally be available within 2 weeks and we will notify you as soon as we receive them by phone or/and email.

In about 5% of cases the test does not give a result. This is due to technical problems with the analysis of the sample and does not suggest there is a problem with the baby. We will repeat the test at no cost and are able to get a result in over 50% of cases.