Panorama Non-Invasive Prenatal Test cfDNA- NIPT from 10 weeks of pregnancy

  • Our Specialist NIPT Sonographers are highly trained experts, with extensive experience of Non Invasive Prenatal Tests cf DNA and early, mid pregnancy and advanced fetal anatomy scans
  • Performed from 10 weeks of pregnancy onwards
  • Can be performed at any later stage of pregnancy including before or after the 12 to14 week Nuchal Translucency scan or the 20 week anomaly scan
  • Panorama NIPT cf DNA Results usually within 8-10 calendar days
  • All of our appointments include an Early Fetal Ultrasound Scan, Early Anatomy Ultrasound Scan or Anomaly scan (dependent on gestation at time of appointment) by our Specialist Sonographers
  • Same day and short notice appointments available, including morning, afternoon, evenings and weekends.
  • A Consultant is available to discuss your results if needed
  • Your questions answered
  • Baby and Parents-to-be focused care
  • We offer longer appointment times as routine- more time for baby, more time for you
  • Committed to advances in pregnancy care
  • The latest ultrasound technology and software
  • Electronic transmission of scan images and videos to your email via YourBabyScan
  • Option to include the sex of your baby

 

What is the Panorama Non Invasive Prenatal Test?

The Panorama test (NIPT) is currently the most advanced non-invasive pregnancy screening available for parents who would like to determine if they have a low probability or high probability for their baby having the conditions Down’s syndrome, Edwards’ syndrome or Patau’s syndrome. The Panorama test is available from as early as 10 weeks of pregnancy, for early screening before the NHS Nuchal Translucency scan. Panorama NIPT can be performed after the NHS 12-14 week Nuchal Translucency Scan, or even in the mid term of pregnancy after the 20 week anomaly scan.

It has been discovered that a blood sample taken from the mother from 10 weeks of pregnancy onwards can be analysed for cell free DNA (cfDNA), which represents a sample of the fetal-placental DNA derived from placental trophoblasts, in the mother's blood.

The Panorama prenatal screening method involves taking a safe blood sample from the mother’s arm. There is no increased miscarriage risk to your baby from having this simple, safe maternal blood test. The cell free DNA (cfDNA) which is present in the mother’s blood is then analysed, the results determine if there is a high probability or low probability of the baby having one of the three screened conditions; Down’s syndrome, Edwards’ syndrome and Patau’s syndrome. These conditions are also known as Trisomy 21, Trisomy 18 and Trisomy 13.

The Panorama Non Invasive Prenatal Test can be used in twin, singleton donor and surrogate pregnancies. You can also choose to find out the sex of your baby by looking at baby’s X or Y chromosomes, this is optionally included with your Panorama Test. In some circumstances it may not be possible for Panorama to report on the sex of your baby.

Panorama can confirm the zygosity of your twin pregnancy. It can be important to determine if your twin pregnancy is Dizygotic (non-identical, two eggs were fertilised) or Monozygotic (identical, one egg was fertilised and the pregnancy divided into two). In monochorionic, identical, twin pregnancies Panorama NIPT can confirm the sex of each twin as it will be same. For dichorionic, non-identical, twin pregnancies Panorama can also confirm if there are two girls, two boys or one of each.

Why the Panorama Test?

The Panorama Test is one of the most accurate non invasive prenatal tests to detect the chance of the three most common chromosomal conditions screened for in pregnancy (T21, T18 and T13). The Panorama Test also provides screening for Triploidy, but the effectiveness of this screening is far less than with the three most commonly screened conditions: Downs syndrome, Edwards syndrome and Pataus syndrome.

The Panorama NIPT is processed and analysed for The Birth Company by Natera Laboratories in the U.S.A. We have an effective and supportive working relationship with the Natera team, ensuring we can give you the best support for your prenatal screening.

Parents to be who wish to find out the likelihood that their baby has one of three chromosomal conditions; Down’s syndrome (T21), Edward’ syndrome (T18) or Patau's syndrome (T13) choose the Panorama Test. The Panorama cffDNA test can be performed from 10 weeks of pregnancy, two weeks earlier than the NHS 12-14 week screening. The Panorama NIPT has a greater sensitivity, specificity and higher positive predictive value (PPV) than the Nuchal Translucency screening, also known as the Combined Test. The Panorama cfDNA Test offers early reassurance and can reduce unnecessary anxiety and invasive testing caused by less effective prenatal screening methods.

Tiny structures inside your baby’s cells called chromosomes carry the genes that determine how your baby develops. There are 23 pairs of chromosomes per cell, however changes may occur during the production of sperm or egg cells which can lead to your baby having an extra chromosome. Although babies with Downs syndrome (T21), Edwards syndrome (T18) and Pataus syndrome (T13) are born to mothers of all ages, maternal age increases the likelihood of the presence of these conditions. The Panorama test analyses the cfDNA in the maternal blood, to determine if there is an increased likelihood that your baby has an extra chromosome present. In cases of Triploidy, a set of extra chromosomes are present.

The Nuchal Translucency screening, or combined test, offered by the NHS determines a background chance based on maternal age. From the maternal age of 35 years of age onwards this background chance increases substantially. This increases the likelihood of receiving a high probability result from the Nuchal Translucency screening. Due to the limitation of the Nuchal translucency screening, this lowers the positive predictive value (PPV) of the test, meaning that those over 35 are more likely to receive a high probability result, even if the baby does not have the condition.

The Panorama test has a higher positive predictive value than Nuchal translucency screening. This means less high probability results where the condition is not actually present. We do not use the term false positives, as these are screening tests therefore they do not determine positives or negatives. They offer likelihoods.

Who needs the Panorama Non Invasive Prenatal Test?

The Panorama NIPT is particularly recommended for those over 35 years of age, parents to be who have had a high probability result in their current or previous pregnancy, or a confirmed chromosomal condition in a previous pregnancy. It is for those who wish to avoid unnecessary invasive testing, which carries a risk of miscarriage.

How is the Panorama Non Invasive Prenatal Test cfDNA performed?

  • An ultrasound scan is always performed prior to the Panorama blood test. This ensures that your baby is healthy, with a strong heartbeat and growing well. This scan will also confirm if it is a singleton or multiple pregnancy. Our Specialist sonographer will check that baby is developing well and confirm your estimated due date, or EDD. Your baby must measure over 10 weeks gestation for the Panorama NIPT to be performed, therefore it may be best to wait until a few days past 10 weeks of pregnancy to visit us for your appointment to ensure your baby is developed enough.
  • Panorama is offered from 9 weeks in the U.S.A, however we have experienced a very high test failure rate at this early gestation, therefore advise the Panorama NIPT is performed from 10 weeks. The purpose of NIPT is to reduce anxiety and the need for unnecessary testing.
  • Our Specialist Sonographer will discuss the pros and cons of the three Non invasive prenatal tests available; Harmony NIPT, Panorama NIPT or SAFE NIPT. This prenatal screening counselling will help you choose the best test for baby and for you.
  • Once the pregnancy scan has been performed and your prenatal screening options discussed, a Panorama consent form will be given to you to read and sign. If you have any questions, are sonographers are here to answer them. Please find a copy of the Panorama consent form here.
  • Panorama Natera Consent form Aneuploid Only
  • Panorama Natera Consent forms 22Q
  • A simple blood test is then taken from the vein of the mother’s arm like any other blood test. There is no risk to your baby from having this blood test performed.
  • The specialised Panorama cf DNA blood sample tubes are immediately packaged and dispatched to the Natera laboratory for processing and analysis, with most samples arriving at the Laboratory in the United states within a few days.
  • NIPT screening results determine if you have a low or high probability for Downs syndrome, Edwards syndrome, Pataus syndrome or Triploidy. As this is a screening test, the Panorama results are not positive or negative. The Panorama test report can also tell you the sex of your baby.
  • If you receive a high probability result our expert team will discuss pathways, including further investigations such as detailed ultrasound scans, invasive testing, counselling or referral to your Fetal Medicine Unit (FMU). This can also be discussed with our Consultant.
  • There can be circumstances where our Specialist Sonographers does not recommend the Panorama NIPT for your pregnancy. Each pregnancy is different. Other prenatal screening, diagnostic testing or further pregnancy care may then be recommended. Our Consultant provides support and advise where needed.

Please note in the circumstance that during your appointment an ultrasound scan is performed but we do not proceed to the NIPT, a fee of £120 (£180 for evening/weekend appointments) will be charged for the appointment only. If booked online or a pre payment is taken, £380 will be refunded to you.

Please note in the instance of a repeat full test failure, the Harmony test laboratory fees may be refunded. A fee for the appointment services provided will be retained.

Please note Anticoagulation therapy (commonly called blood thinners) can increase the possibility of receiving No Result for your NIPT. Please leave as long between administering your dose and your NIPT appointment as possible. For example, if you administer in the evening and have an early morning appointment, either change to an appointment late in the day, or refrain from your evening dose. If you administer in the morning, refrain from that dose until after your appointment. If you have any queries regarding this, please contact our team admin@thebirthcompany.co.uk.

For further information please see below:
Anticoagulation Therapy Publication

How long does it take to receive your Panorama Test result?

  • Results take from 8-14 calendar days depending on the day of week/time of day the sample is taken or if the lab need to perform further analysis on your blood sample. Results take an average number of 10 days.
  • As soon as The Birth Company receives the Panorama non invasive prenatal laboratory results, we will call you to explain them before emailing you a copy to keep in your maternity notes. Our team are in the clinic until from 8am to 8pm daily, and Saturdays and Sundays. The laboratory portals are checked throughout the day, but we do tend to receive most results in the late afternoon.
  • In rare circumstances the result can take longer than 10 days. We understand it can be a stressful time waiting for results and we will endeavour to communicate any delays to our patients as soon as we receive information from the laboratory.

What results can I expect from my Panorama Prenatal test?

  • The Panorama NIPT report will determine whether you have a low probability or high probability for Down’s Syndrome, Edwards’ Syndrome, Patau’s Syndrome or Triploidy (Trisomy 21, Trisomy 18, Trisomy 13 or 69,XXX). This can be particularly reassuring if you have received a high probability Nuchal translucency scan, or a sonographer has found a structural condition such as Renal Pelvis Dilatation or short femurs at your 20 week anomaly scan.
  • If you receive Low probability results, the likelihood of your baby having each of the conditions is less than 1 in 10’000. This means that we would expect less than one baby to be born out of ten thousand births with the condition Down’s syndrome, Edwards’ syndrome or Patau’s syndrome. The result is not positive, nor negative as this is screening test only.
  • If you receive a High probability result, this will specify which trisomy condition there is a high probability of your baby having; Downs syndrome, Edwards syndrome or Pataus syndrome. This is not a positive result, this does not confirm that your baby has this condition, as this is a screening test only.
  • Please note that the positive predictive value (PPV) for NIPT varies between Downs syndrome, Edwards syndrome and Pataus Syndrome, between pregnancies and with maternal age. The PPV for Downs syndrome varies from 1 in 2 babies confirmed to have the condition to 9 in 10 babies confirmed to have the condition, therefore genetic counselling, further investigation and a supportive pregnancy pathway is recommended. During pregnancy, the only method available to diagnose if the condition is actually present is invasive testing such as chorionic villus sampling (CVS) or amniocentesis.
  • Due to the nature of the Panorama test, there is a 4% chance of receiving No Result from your NIPT blood sample. This is not a low probability, nor high probability. This happens in around 4 in 100 samples, this does not mean that your baby has a condition present. It is most commonly because the Panorama blood sample did not contain the lowest quantity threshold of Fetal Fraction, which is the minimum quantity of cffDNA needed to perform an accurate Panorama NIPT analysis, In most cases it is suitable to offer a redraw of the sample free of charge, including an ultrasound scan. The chance of receiving a screening result on the second draw is 50%. No Result is increased by maternal weight greater than 85kg, as evidence supports that there is a negative relationship between maternal weight and the quantity of cffDNA fetal fraction.
  • If you have selected the option of finding out the sex of your baby, this will also be documented on the Panorama NIPT report. In some circumstances, Panorama are unable to perform sex determination analysis.

Example Panorama NIPT Reports

What is the difference between Nuchal Translucency screening and Panorama cfDNA Non-Invasive Prenatal Testing?

Prior to this advance in prenatal screening, doctors and screening midwives used the results of the Nuchal Translucency Scan to advise parents to be if they had a low or high probability of their baby having the conditions Downs syndrome, Edwards syndrome or Pataus syndrome.

The Nuchal Translucency Scan is a method of screening offered by the NHS from 12 to 14 weeks of pregnancy and includes several factors to determine this probability, including maternal age, the nuchal translucency measurement at the back of the baby’s neck and the maternal blood biochemistry (free ß-hCG and PAPP-A). This method is also known as the combined test. The greater the maternal age, the greater the background chance of the presence of the condition.

Nuchal Translucency screening test, or combined test, has a sensitivity of 84%. Parents to be who receive a high chance result are offered counselling by their screening midwife. This does not confirm the presence of the chromosomal condition. A diagnostic invasive test such as chorion villous sampling (CVS) or amniocentesis can confirm the presence or absence of the conditions Down’s syndrome, Edwards’ syndrome and Patau’s syndrome. A needle is used to take a sample of the pregnancy, through the mother’s tummy to allow for the analysis of fetal DNA. These invasive tests report a risk of miscarriage to the pregnancy of 1:100.

Since Panorama Non invasive prenatal testing (NIPT) became available many parents to be chose this more accurate prenatal screening. For comparison, when screening for Down’s syndrome using the Nuchal Translucency scan, the detection rate is 84% and positive predictive value (PPV) is less than 15%, meaning the actual number of high probability pregnancies that are later confirmed to have the condition Downs syndrome is less than 1 in 6.

When screening for Down’s syndrome using the Panorama Non Invasive Prenatal Test, the detection rate is 99% and positive predictive value (PPV) varies from 48% to 99% depending on maternal and pregnancy factors, including maternal age and the presence of an increased nuchal translucency measurement. The greater the maternal age, the greater the NIPT positive predictive value (PPV). You can use the NIPT Positive Predictive Value calculator to calculate your PPV for each condition here:

https://www.perinatalquality.org/Vendors/NSGC/NIPT/

This means using Panorama NIPT, the actual number of high probability pregnancies confirmed to have the condition Down’s syndrome vary from 1 in 2 (50%) confirmed with the condition to 9 in 10 (90%) of babies confirmed with the condition, depending on maternal age and other factors.

For Edwards Syndrome the Harmony NIPT positive predictive value (PPV) is 2 in 5, or 40% likelihood that the baby is confirmed to have the condition. For Pataus Syndrome the Harmony NIPT PPV is reported as 1 in 2, or 50% of babies confirmed to have the condition after a high probability Harmony NIPT. The positive predictive value for Triplody is far less.

The results of the safe, simple Panorama NIPT blood test has a high detection rate which will hugely reduce the need for unnecessary invasive testing by CVS or amniocentesis. This is great news for parents to be looking for reassurance in pregnancy.

It is important that an ultrasound scan is performed just before the blood test to confirm the pregnancy, and to check if there are twins or more. Our Specialist sonographers will perform a detailed early fetal scan, early anatomy scan or anatomy scan depending how many weeks pregnancy you are when you visit us for the Harmony Test.

Are there conditions that the Panorama Non Invasive Prenatal Test cannot detect?

Yes. Structural conditions such as brain, face, stomach, kidney, bladder and limb conditions, aswell as Spina Bifida. Poor growth and development will only be demonstrated on ultrasound scans, often not until the second and third trimester. If you would like further reassurance that your baby is developing and growing well, our Specialist sonographers are trained to perform early anomaly scans from 16 weeks of pregnancy.
 

Are there further conditions that the Panorama Non Invasive Prenatal Test can detect?

The Panorama test is primarily used to determine the likelihood of your baby having the four conditions Down’s syndrome, Edwards’ Syndrome, Patau’s Syndrome and Triploidy. The NHS offer screening for the conditions Down’s syndrome, Edwards’ Syndrome and Patau’s Syndrome, however the Nuchal Translucency screening offered by FASP has reduced sensitivity, specificity and positive predictive values compared to NIPT. A LOW PROBABILITY result does not guarantee that a baby is unaffected by a chromosomal or genetic condition. Babies without the presence of a chromosomal condition may receive a HIGH PROBABILITY result. In cases of HIGH PROBABILITY results and/or other clinical indications of a chromosomal condition, confirmatory testing is necessary for diagnosis.

If you wish to know the gender of your baby, there is an option to report your baby’s sex. Please note that due to the limitations of the test, in some rare circumstances it may not be possible for the laboratory to determine if your baby is a boy or girl by NIPT.

The Panorama Test offers screening for the rare conditions Monosomy X and Sex Chromosome Aneuploids. This screening is not offered within the NHS and there are concerns that there is not enough evidence to support screening for these rare chromosomal conditions. The positive predictive value of the condition is much lower than for T21, T18 and T13. The purpose of NIPT is to reduce anxiety in pregnancy and reduce the number of invasive tests performed unnecessarily. Screening for rare conditions may increase the number of invasive tests performed unnecessarily. There is not a structured pathway within the NHS screening programme to support the screening of Monosomy X and Sex Chromosome Aneuploids from NIPT.

The Panorama Test also offer screening for the microdeletion 22q11.2 deletion, also known as DiGeorge syndrome. As in the case of Monosomy X and sex chromosome aneuploids, there are concerns that there is not enough evidence to support including screening for this chromosomal condition. The positive predictive value of the condition is much lower than for T21, T18 and T13. Screening for rare conditions may increase the number of invasive tests performed unnecessarily. There is not a structured pathway within the NHS screening programme to support the screening of 22q11.2 from NIPT.

The limitations of the Panorama Prenatal Test for 22q.11.2: A Low Probability result does not guarantee that a baby is unaffected by a chromosomal or genetic condition. Some babies with 22q.11.2 deletion may receive a Low Probability test result. Some babies without the 22q11.2 deletion may receive a test result of a High Probability. In cases of High Probability results and/or other clinical indications of a chromosomal condition, confirmatory testing is necessary for diagnosis.

The Panorama NIPT offers screening for 4 further microdeletions; Prader-Willi Syndrome, Angelman Syndrome, 1p36 Deletion Syndrome and Cri-du-chat Syndrome. As in the case of Monosomy X, sex chromosome aneuploids and 22q.11.2 deletion there are concerns that there is not enough evidence to support including screening for these rare chromosomal conditions. The positive predictive value of these conditions is much lower than for T21, T18 and T13. Screening for rare conditions may increase the number of invasive tests performed unnecessarily. There is not a structured pathway within the NHS screening programme to support the screening of microdeletions from NIPT. If you require screening for these rare conditions, your NIPT appointment must be booked with our Consultant Obstetrician. The cost of Consultant led NIPT with full panel microdeletion screening is £830.

This table represents the sensitivity, specificity and Positive Predictive Values reported by Panorama for each condition. (Coming soon)

How much does the Panorama Test cost?

The Panorama Test, including an ultrasound scan and prenatal screening counselling from our Specialist Sonographers costs £500. 

Appointments after 5pm, weekend and bank holiday appointments incur a £50 surcharge. Panorama NIPT appointments with our Consultant Dr Gibb incur an additional charge of £150. Please note Dr Gibb is available on Thursday afternoons, with further availability on request. 

What you will receive:

  • Detailed ultrasound and Panorama NIPT report, with charts and images, to file with your maternity notes.
  • Expert prenatal screening care
  • YourBabyScan Images and Videos direct to mobile and email
  • Baby Ultrasound Images to take home
  • Longer appointment times as routine
  • A calm and relaxing environment
  • High quality professional care from our Specialist Advanced Sonographers who are committed to advances in pregnancy care

What happens after the Panorama NIPT test?

If the NIPT is low probability then it is important that the sonographer or doctor performing the 12 week scan or 20 week pregnancy scan is aware of this. If the test is high probability then you should return to The Birth Company or your NHS Fetal Medicine Unit for further counselling and to develop a supportive pregnancy pathway. 

Pregnant women are offered two routine ultrasound scans during pregnancy within the NHS, this is called the Fetal Anomaly Screening Programme. https://www.gov.uk/topic/population-screening-programmes/fetal-anomaly

Depending on how many weeks pregnant you are, we recommend you take the opportunity to have a 12 to 14 week pregnancy scan privately or with the NHS. The focus of the 12 week scan will change as you will already know if you have a low chance for Down’s syndrome, Edwards’ syndrome and Patau’s syndrome. The 12 to 14 week pregnancy scan will look at the development of your baby in detail, our Sonographers are highly trained to perform early fetal scans and early fetal anomaly scans. These specialist private pregnancy scans and NHS scans look for structural conditions (these may exist without the presence of a chromosomal condition).

The other routine pregnancy scan offered by the NHS is around 20 weeks of pregnancy called the Anomaly scan. The purpose of this ultrasound scan is to assess your baby’s physical development and to look for 11 rare conditions, including head/brain and heart conditions. The 20 week anomaly scan is a very important ultrasound scan during pregnancy.

More information:

More information about chromosomal conditions can be found here:

www.downs-syndrome.org.uk/for-new-parents/being-pregnant/

www.soft.org.uk/

tss.org.uk/

www.nhs.uk/conditions/Pataus-syndrome/

www.nhs.uk/conditions/edwards-syndrome/

www.nhs.uk/conditions/digeorge-syndrome/

www.nhs.uk/conditions/turner-syndrome/

www.nhs.uk/conditions/klinefelters-syndrome/

www.ksa-uk.net/

www.nhs.uk/conditions/angelman-syndrome/

www.nhs.uk/conditions/prader-willi-syndrome/

www.fpwr.org/about-prader-willi-syndrome

criduchat.org.uk

www.1p36.co.uk/

 

More information about screening tests offered in pregnancy can be found here:

https://assets.publishing.service.gov.uk/government/uploads/system/uploads/attachment_data/file/856814/ANNB01_Screening_tests_for_you_and_your_baby_Jan_2020.pdf

https://www.gov.uk/government/publications/screening-tests-for-you-and-your-baby-description-in-brief

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