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The Panorama Test: Non-Invasive Prenatal Test (NIPT) Screening

Natera_Panorama

For most expectant mums, any risk to the health of their unborn child is frightening. With more women over the age of thirty-five having babies, the risk of miscarriage and birth defects increases significantly. However, added stress and worry about the unknown are certainly not good for mum or baby.

All mums-to-be are offered routine prenatal screening tests at different stages of their pregnancy, typically around week 12 and week 20. However, women who are considered a higher risk of having a child with certain conditions will usually be offered additional check-ups.

Note: You may also wish to view the clinics in the UK where you can get Non-Invasive Prenatal Test (NIPT) screening.

While some mums-to-be choose not to undergo prenatal screening for chromosomal abnormalities, most prefer to be aware of any defects in order to best equip themselves with the right information to handle all outcomes.

Standard Screening
The first test that mums-to-be will undergo is the Nuchal Translucency Scan plus blood test (often referred to as the ‘Combined Test’). The results of this will advise couples on their risk of having a baby with Down’s syndrome, or other chromosomal abnormalities. However, the test does not offer a 100% accuracy guarantee, which means a small margin of results may not be accurate. This can leave parents unprepared if they have been given a negative result and their baby is born with a chromosomal defect. Or on the other hand, they may be unnecessarily upset through receiving a false positive result.

Women who are considered to be at a higher risk of having a baby with Down’s syndrome, due to their age or medical history, will have the option to proceed with chorionic villous sampling (CVS) or amniocentesis. These tests are invasive and involve the insertion of a needle into the womb, which can carry a small chance of miscarriage.

However a simple blood test, which is less invasive and said to be 99% accurate for Down Syndrome can be now be taken, which will give couples more peace of mind and can help to give couples more peace of mind and avoid the need for invasive testing in many cases’.

Non-Invasive Prenatal Screening Test (NIPT)
A Non-Invasive Prenatal Screening Test (NIPT) can identify evidence of chromosomal abnormalities such as Down syndrome, Edward syndrome, Patau syndrome or sex chromosome trisomies. The Panorama test has been backed by a wealth of peer-reviewed studies, with the test already been delivered to over half a million women in the world.

How Does It Work?
In pregnancy, DNA from a baby is released into the mother’s bloodstream. A blood sample is taken from the mother from the ninth week of pregnancy, followed by analysis in a lab can detect chromosomal abnormalities. However, it is important that an ultrasound scan is performed just before the blood test to confirm the pregnancy and to check if the mother is carrying twins or not. The Panorama test cannot be carried out on ‘multiple pregnancy’, a surrogate or egg donor or pregnant women who have undergone bone marrow transplant.

What Is Different About The Panorama Test?
All NIPTs are more sophisticated than the traditional “first line” Combined Test (Nuchal Translucency Scan with a blood test). However unlike most other NIPT methods, the Panorama Test uses sophisticated enrichment technology, meaning that only the relevant chromosomes are amplified in testing. This makes more information available on these relevant chromosomes, producing deeper and more comprehensive readings for mum and dad.

What’s more, the Panorama Test is the only NIPT to exclusively use patented single-nucleotide polymorphism (SNP) technology, making it the only non-invasive prenatal test that is able to distinguish between mother and foetus’s DNA. This results in less false positive and false negative results. It can also screen for other conditions, such as Triploidy, Microdeletion syndromes (optional) and Complete Molar pregnancies.

Reasons To Take A Panorama Test
A test can be taken following an early viability scan, or in addition to the 12 weeks Combined Test if abnormalities are found. The Panorama Test is designed for pregnant women of all ages and can uncover microdeletions that affect babies regardless of the age of the mother. Unlike any other NIPTs, the Panorama Test can be taken from as early as 9 weeks into your pregnancy.

Natera, the company that created Panorama, runs free telephone Genetic Information Sessions, which provide information to help parents consider their options before or after screening. You can schedule a telephone session here.

Video: The Panorama Test – Everything You Need To Know.
(Click image to play)

Are There Fetal Problems That The Panorama Test Does Not Screen For?
Structural problems like Spina Bifida and heart defects can only be uncovered through ultrasounds, and often not until further along in pregnancy. Routine scans such as the 20 week Anomaly Scan, must still be undergone.

How Long Before Results Come Through?
Following the test, the blood sample will be sent to Natera in the US. Your doctor will usually receive your results within 5-7 calendar days.

What Do The Panorama Test Results Include?
Panorama presents you with a comprehensive, easy to understand report. You will have a personalised risk score for each potential abnormality, with positive predictive values for high-risk cases. If you wish to know the sex of your baby, that can be included in the report. The fetal fraction (i.e. the proportion of DNA in the blood sample that came from your baby) is measured and reported to you.

Your doctor can talk through your results with you. The only way to be 100% sure that your baby has no chromosomal abnormalities is to undergo a diagnostic test, like CVS or amniocentesis testing. However, the Panorama Test leaves you as sure as you possibly can be without the risk of miscarriage.

On the small chance that there are no results from the sample, you will be offered another test free of charge.

What Happens After The Panorama Test Has Been Taken?
If you are 9-12 weeks pregnant at the time you take the Panorama Test then you will still be able to receive a 12 week scan, either privately or on the NHS. However, the scan will now have a different focus.

Since you will already have the results of the chromosomal abnormality testing as detailed above, this scan will focus on examining the baby in a detailed way to check for structural abnormalities (these can be present without a chromosomal abnormality). If the Panorama Test is negative then it is important that you tell your sonographer that.

If the test is positive you should consider counselling, which you may be able to access either through the NHS or a private clinic. Natera, the company that offers Panorama, also runs free telephone Genetic Information Sessions with experts, to provide information to help you consider your options either before or after taking the test.

How Much Does A Panorama Test Cost?
Prices are set by individual clinics and generally range from £400, including an ultrasound. Screening for microdeletions is optional and costs slightly more.

Access To The Panorama Test
The Panorama Test is not available on the NHS as yet, however, the test can be carried out in some private clinics in the UK.

Natera_Chromosomes

Information: chromosomal abnormalities that Panorama tests for:

Down Syndrome
Down Syndrome is caused by an extra copy of chromosome 21 and can produce moderate to severe learning disabilities. It is also linked with hearing and vision problems, as well as heart defects. The single biggest factor associated with Down syndrome is the age of the mother. For example, at age 30 the risk is 1:800, at 35 it is 1: 270, at 40 it is 1:100 and at 45 the risk is upwards of 1:50.(i)

Microdeletion Syndromes
A microdeletion is a rare genetic condition caused by a tiny missing part of one of the body’s 46 chromosomes. For healthy development, chromosomes should contain just the right amount of material – not too much and not too little. Even a tiny piece of missing material can lead to mental development problems, learning difficulties, as well as heart defects. If microdeletions are detected very early, parents have an opportunity to ensure that their child will receive the most appropriate care. Unlike Down syndrome, microdeletions occur with the same frequency irrespective of how old the mother is. Panoramais one of the few companies offering screening for microdeletions.

Edward Syndrome And Patau Syndrome
Both conditions are linked to high rates of miscarriage. Babies born with these syndromes suffer severe brain defects as well as additional birth defects and often have congenital heart conditions. Most babies with these syndromes will die before reaching one year. These syndromes occur about once in every 1800 pregnancies.(ii)

Monosomy X (Turner Syndrome)
This is a sex chromosome abnormality, occurring when part or all of an X chromosome is absent. Turner syndrome affects 1 out of every 2000 live female births. Girls with Turner syndrome can live normal and healthy lives, but they usually need some ongoing medical support to detect and treat resulting complications which can include heart defects, hearing loss, infertility, and spinal curvature. Turner syndrome cannot be prevented.

Sex Chromosome Trisomies
For example like Klinefelter Syndrome. This condition will be present in around 1 out of every 600 male babies that are born. Boys with this syndrome can lead healthy, normal lives but may experience early development issues and learning difficulties such as dyslexia and dyspraxia, as well as fertility problems.

Triple X Syndrome
Triple X Syndrome affects 1 in every 1000 girls born. Females with Triple X syndrome may have little to no symptoms, or may experience learning disabilities and developmental delays. Early detection of these problems means that measures can be put in place to manage any resulting issues.

Triploidy is a fatal chromosomal abnormality occurring in 1 to 2% of all conceptions. Most babies with triploidy will not reach full term, and the remainder will not survive past six months of life. Many couples have undergone scans and been informed all is well with their baby, only to miscarry days later. Detecting triploidy enables families to mentally and emotionally prepare for the loss of the baby, stemming some of the shock inherent in the trauma of miscarriage. Panorama is the only test that can identify triploidy.

Complete Molar Pregnancy
Complete Molar Pregnancy this occurs when a sperm fuses with an egg with no genetic material, resulting in a foetus and placenta that don’t form properly. In the place of a normal pregnancy, abnormal cysts grow Molar pregnancies are rare, with about one to three in every 1,000 pregnancies turning out to be molar(iii) , and the condition is more common in older women. Diagnosing a molar pregnancy as early as possible is important because it must be removed. A viable pregnancy is impossible and the tissue is dangerous to a woman if it remains in the womb. Panorama is the only NIPT that can detect Complete Molar Pregnancy.

For more information please visit www.panoramatest.com

REFERENCES

 [i] www.nhs.uk/Conditions/Downs-syndrome/Pages/Causes.aspx
 [ii] www.soft.org.uk/Help-for-Families/What-Support-is-Available/SOFT-UK-Publications/Your-Baby/Patau-and-Edwards-Syndromes
 [iii] www.nhs.uk/conditions/molar-pregnancy/pages/introduction.aspx

Natera

Natera Brochure – The Panorama Test


Natera Factsheet – The Panorama Test

We would like to thank the team at Natera, for providing their specialist knowledge for this article.

Natera
Tel: +1 (650) 249-9090
Email: Email for further information
Web: www.natera.com/

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