Non-Invasive Prenatal Testing

About the Panorama Test

Panorama is a non-invasive DNA screening test that can tell you important information about your pregnancy, from as early as nine weeks of gestation. You can find out the likelihood of your baby having a chromosomal abnormality, such as Down syndrome, and all that’s required is a sample of your blood. If you choose, you can also find out the gender of your baby.

Is Panorama right for me?

According to the International Society for Prenatal Diagnosis (ISPD), non-invasive prenatal testing (like the Panorama Test) is appropriate as a primary screening test for pregnant women of all ages. Down Syndrome and certain other chromosomal conditions occur more frequently in babies born to mothers over 35 years old. Other conditions for which Panorama screens – such as microdeletion syndromes – occur with the same frequency in babies, regardless of the mother’s age.

Currently, Panorama cannot be used in the following types of pregnancies:

  • Multiple gestation pregnancies with 3 or more fetuses
  • Pregnant women who are bone marrow transplant recipients

What Panorama Screens For

Panorama is the only non-invasive prenatal screening test that distinguishes between fetal and maternal cell-free DNA thanks to SNP-based sequencing and Natera’s proprietary algorithm. Using advanced bioinformatics techniques, Panorama screens for a broad panel of chromosomal conditions, including:

Chromosome Abnormalities

  • Trisomy 21 (Down syndrome)
  • Trisomy 18 (Edwards syndrome)
  • Trisomy 13 (Patau syndrome)
  • Triploidy

Sex Chromosome Abnormalities

  • Monosomy X (Turner syndrome)
  • Klinefelter syndrome
  • Triple X syndrome
  • XYY syndrome

Microdeletions

  • 2 deletion syndrome
  • 1p36 deletion syndrome
  • Prader Willi syndrome
  • Angelman syndrome
  • Cri-du-chat syndrome
  • Gender of the Baby (optional)

In Twin Pregnancies

Non-identical or fraternal twins

  • Trisomy 21 (Down syndrome)
  • Trisomy 18 (Edwards syndrome)
  • Trisomy 13 (Patau syndrome)
  • Gender of each twin (optional)

If our screening finds that your twins are identical, Panorama can additionally screen for:

  • Monosomy X (Turner syndrome)
  • Sex chromosome trisomies
  • 2 deletion syndrome (optional)

Egg Donor or Surrogate Pregnancies

  • Trisomy 21 (Down syndrome)
  • Trisomy 18 (Edwards syndrome)
  • Trisomy 13 (Patau syndrome)
  • Gender (optional)

How accurate is the test?

Clinical studies have shown exceptional accuracy for detecting fetal trisomy.

What does the DETECTION RATE mean?

The detection rate or sensitivity is the ability to correctly identify a truly high risk case as high risk. For example, in a group of Trisomy 21 cases, Panorama will correctly identify more than 99% of those cases.

What is SPECIFICITY?

This is the ability to correctly identify an unaffected case as low risk.

What is the POSITIVE PREDICTIVE VALUE (PPV)?

This is the likelihood that the result says high risk and the fetus is actually affected. For example, when the Panorama Test shows a high risk result, there is a 91% chance that the fetus is affected by Trisomy 21. In other words, 9% of the time, you may get a high risk result when the fetus is not affected by Trisomy 21.  For Trisomy 13, the PPV is however only 38% (see the information in the ‘learn more’ section).

What is the NEGATIVE PREDICTIVE VALUE (NPV)?

This is the likelihood that the result says low risk and the fetus is truly not affected.

What do the results means?

What does a HIGH RISK result mean?

A HIGH RISK result is indicative of a high risk for a condition. The actual risk of an affected fetus depends on the condition being screened for and is the PPV (see the table in the ‘learn more’ section for detailed information on each condition). After the test, the number of women required to have a CVS or an amniocentesis is less than 1%. It is important to note that if the test results show there is a HIGH risk that the fetus has trisomy 21, 18 or 13 it does not mean that the fetus definitely has one of these defects, although it is highly likely. For this reason, in the event of a high risk (or positive) result, follow-up testing by an invasive procedure is recommended.

What does a LOW RISK result mean?

If the test results show that there is a LOW RISK that the fetus has a condition, it is unlikely that the fetus has one of these defects. The actual risk depends on the condition being screened for and is the NPV (see the table in the ‘learn more’ section for detailed information on each condition). However there is a very small risk that not all trisomy fetuses will be detected. All results should be interpreted by a clinician in the context of clinical and familial data: patients should continue with their usual scan appointments following testing.

How long will it take to get results?

Typically within 2 weeks but occasionally (3% of tests which are done) if there is not enough fetal DNA in the original blood sample then a repeat blood test may be required within a week of the original test at no extra cost.

Are there any risks to the pregnancy from the Panorama Test?

No. The testing is non-invasive: it involves taking a blood sample from the mother. The pregnancy is not put at risk of miscarriage, or from other adverse outcomes that are associated with invasive testing procedures such as CVS or amniocentesis.