Non-Invasive Prenatal Testing (NIPT)

Non-invasive prenatal screening can be helpful in learning more about your baby’s health. It can help you to consider all of your options, how to manage your pregnancy and consider if special management or care is needed. Non-invasive prenatal screening is safe and usually involves just a simple blood test. Your results are usually available about 2 weeks after the test. We advise all parents-to-be to learn about prenatal screening before undertaking any test and it is vital that your results are properly communicated and explained.

Here at Innermost Healthcare, our NIPT Panorama Test from Natera includes:

• the opportunity to discuss prenatal screening before you undertake the test with an experienced Consultant in Fetal Medicine
• the Panorama Test (learn more about the test below)
• fetal gender (optional)
• an early viability or growth scan (scan selection depends on your stage in pregnancy)
• the opportunity to discuss your results with an experienced Consultant in Fetal Medicine
• information about your options and support with your choices

The Panorama Test from Natera

Panorama is a non-invasive DNA screening test that can give you important information about your pregnancy, from as early as nine weeks into pregnancy. With a simple blood test, you can find out the likelihood of your baby having a condition such as Down Syndrome or Edwards Syndrome. If you choose, you can also find out the gender of your baby. The test is available and validated for single, twin, egg donor and surrogate pregnancies.

Why Choose Panorama?

Panorama has been the test of choice of more than 2 million women around the world, from over 80 countries. It has some exclusive features:

• the only NIPT to differentiate between mother and baby’s DNA for the conditions screened
• detection of Triploidy and vanishing twin
• detection of Zygosity
• detection of Maternal X mosaicism
• in twin pregnancies, fetal fraction and sex for each twin
• targets over 13,000 SNPs to evaluate the 1% of the DNA that makes us different from each other.

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 Conditions

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

Sex Chromosome Conditions

• Monosomy X (Turner syndrome)
• Klinefelter syndrome
• Triple X syndrome
• Other sex chromosome conditions reported if suspected

Microdeletions

• 22q deletion syndrome
• 1p36 deletion syndrome
• Prader Willi syndrome
• Angelman syndrome
• Cri-du-chat syndrome

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)
• Zygosity (to see if twins are identical)
• Individual fetal fraction for non-identical twins

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

• Monosomy X (Turner syndrome)
• Sex chromosome trisomies
• 22q11.2 deletion syndrome (optional)

Egg Donor or Surrogate Pregnancies

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

Information about the Test

What does the DETECTION RATE mean?

The detection rate or sensitivity is the ability to correctly identify a baby with a specific condition. For example, in a group of babies with Trisomy 21, Panorama will correctly identify more than 99% of those cases.

What is SPECIFICITY?

This is the ability to correctly identify a baby that does not have the condition.

What is the POSITIVE PREDICTIVE VALUE (PPV)?

This is the likelihood that if the result says high probability that the fetus will actually have the condition. For example, when the Panorama Test shows a high probability of Trisomy 21, then there is a 91% chance that the fetus will actually have 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 if the result says low probability that the fetus will not have the condition.

How long will it take to get results?

Results are usually reported within 2 weeks. In about 1.6% (as opposed to 3% for other NIPT tests), a result is not possible (usually because there is not enough fetal DNA in the original blood sample). When this happens, a repeat blood test may be required and this is done at no extra cost. After a second sample only about 0.03% tests remain unreportable.

Your Test Results