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Carrier Screening

As London’s leading NIPT provider, we’re here to compassionately guide you through choosing the right Non-Invasive Prenatal Test. 

Our team of expert genetic counsellors offers personalised support and clear explanations of your genetic test results, ensuring you feel understood and supported every step of the way.

Supporting Your Journey to NIPT Decision

Choosing the right Non-Invasive Prenatal Test (NIPT) for you and your baby is a deeply personal decision. With the multitude of tests available, each offering insights into your baby’s genetic health, it’s understandable to feel both overwhelmed and concerned about making the best choice. This is why we’ve introduced our pre-NIPT genetic counselling service

Our compassionate, certified genetic counsellors are dedicated to walking you through your options in a supportive, understanding environment. We’re here to provide the information and emotional support you need, ensuring you make a decision that feels right for you and your growing family.

Abstract Prenatal Care Illustration for London Pregnancy Clinic blog - A minimalist design with a soft palette of light orange and baby pink, featuring an abstract fetus surrounded by prenatal care symbols such as a stethoscope and heart, conveying a sense of protection, growth, and tranquility for expectant mothers.

In our clinic, ultrasound and genetics are working together to provide the best possible care for your baby

Genetic Services for your pregnancy

  • Certified clinical genetic counsellors

  • Personalised risk assessment for parents

  • Customised support for your NIPT decision

  • Expanded Genetic Screening Panels explanation and assistance

  • Pros and cons of the most comprehensive and advanced NIPT options

  • SMART Test: A detailed overview of the world’s most sophisticated fetal health screening panel (genetic counselling is included in SMART Test package)

  • NIPT for microdeletions, single-gene syndromes and specific genetic conditions

  • High chance NHS Combined Screening Test results: Guidance and support

  • High probability NIPT results by other providers: Genetic counselling

  • Preconception counselling: pre-pregnancy genetic advice

  • Carrier Screening: individualised genetic testing for fathers and mothers

  • Fertility Genetics counselling

  • Pregnancy loss (miscarriage) genetics

  • Discounted price for NIPT-related Genetic Counselling – just £75 or free*

  • Same-day, evening, and weekend phone and video-call appointments

Genetic Counselling Explained

Who is a genetic counsellor?

A genetic counsellor specialising in pregnancy and fertility is a healthcare professional trained in genetics and counselling. They focus on assisting individuals and couples during preconception, pregnancy, and the postnatal period. They help assess the risk of inherited conditions, interpret results from prenatal screenings like NIPT, and advise on genetic testing options.

These counsellors, working together with fetal medicine specialists, provide crucial support in navigating the complex landscape of genetic information, helping families to understand their options for family planning, prenatal screening, and managing potential genetic risks to ensure the best possible outcomes for both parents and their future children.

What does genetic counseling involve?

Genetic counselling before and during pregnancy helps expectant parents understand how genes might affect their baby’s health. This includes:

  • Looking at family and health history to figure out if there’s a chance the baby might inherit certain health issues.
  • Teaching about how genetic conditions are passed on, what tests can be done, how to deal with or prevent these conditions, and where to find more help or information.
  • Offering advice to help parents make choices about genetic testing and how to prepare for any health risks the baby might face.

This service aims to give parents the information they need in a simple way, helping them feel ready and supported as they plan for their baby’s future.

NIPT genetic counselling at London Pregnancy Clinic

Genetic counselling is like having a detailed chat with a specialist who helps you understand how your family’s health history might affect your or your baby’s health. Here’s a simple look at how it works:

  • Sharing Stories: You start by talking about your family’s health history. This helps the counsellor determine if there are any health patterns you should be aware of.
  • Learning Together: The counsellor will explain how genes work and talk about conditions that could be inherited. For example, they might discuss Non-Invasive Prenatal Testing (NIPT), a blood test you can take during pregnancy to see if your baby is at risk for conditions like Down syndrome, or carrier screening tests, which can tell if you or your partner carry genes for conditions like cystic fibrosis (CF).
  • Talking About Tests: If there are tests that might help, the counsellor will tell you about them, how they work, and what the results could mean. This part is all about giving you the info you need to decide if you want to take any tests.
  • Supporting You: It’s a safe space to talk about how you feel and any worries you might have. The counselor is there to listen and help you through it.
  • Making Decisions: The counsellor helps you consider the pros and cons of testing based on what’s important to you. They’re there to support you, not to tell you what to do.
  • Help Along the Way: The chat doesn’t stop after you decide about testing. The counsellor will be there to explain test results, discuss what comes next, and point you toward more help if you need it.

In this journey, you’re not alone. Genetic counselling is about getting personalized guidance to navigate the genetic aspects of pregnancy and fertility, ensuring you make the most informed decisions for yourself and your future family.

Diving into NIPT options
At London Pregnancy Clinic, we take pride in being a leading provider of NIPT in the UK. We’ve put a lot of care into picking the very best NIPT options out there, looking closely at different companies, labs, and what their tests can do. Our goal? To bring you a selection of advanced tests that cover the broadest range of genetic conditions currently identifiable by today’s NIPT technology.

We’re excited to offer you PrenatalSafe, GeneSafe, Panorama AI, and Unity NIPTs. Plus, we’ve created something special – our very own SMART Test. It combines an advanced scan with NIPT, setting a new standard for checking your baby’s health as thoroughly as possible.

We get that all these options might feel overwhelming, which is why we’re here to help make things clearer and simpler for you. To help you navigate these choices, we offer discounted genetic counselling for anyone thinking about genetic testing. It’s all part of ensuring you feel informed, supported, and confident in your decisions about your baby’s health.

NIPT: what questions to ask our geneticist?

Here’s a comprehensive list of questions you might consider asking our geneticist about NIPT:

  1. What does NIPT screen for? Ask about the range of conditions, including common chromosomal abnormalities, single-gene disorders, sex chromosome issues, microdeletions, and more.

  2. How accurate is NIPT? Inquire about the test’s reliability for detecting different conditions.

  3. What will the results tell us? Understand what you can learn from the outcomes and their implications.

  4. What happens if the test results are positive or unclear? Discuss follow-up steps and options for further testing.

  5. Are there any risks associated with NIPT? While non-invasive, it’s good to know every detail.

  6. How does NIPT compare to other prenatal tests? Gain insight into why NIPT might be recommended and how it fits with other screening or diagnostic tests.

  7. When and how will we receive the results? Timing can be crucial for your peace of mind and planning.

  8. What are the costs, and can the NHS perform NIPT in your case? Financial planning is an important aspect to consider.

  9. Considering our family health history, how relevant is NIPT for us? Get personalized advice based on your specific situation.

  10. Can NIPT provide information about the baby’s sex or other genetic traits like blood group? Some tests offer these details for those interested.

  11. What do extended NIPT panels cover? Dive into the specifics of tests for a broad range of genetic conditions.

  12. How do different NIPT brands and providers compare? Each may offer unique tests or have different strengths.

  13. What are the pros and cons of various NIPT options? Discuss the benefits and limitations to find what’s best for you.

  14. Should we also consider additional genetic tests, like carrier screening? Other tests can complement NIPT for a comprehensive view of your baby’s genetic health.

  15. What causes ‘no call’ results, and what do we do if that happens? Understand why sometimes NIPT doesn’t give a clear result and what the next steps are in that scenario.

  16. Who is eligible for NIPT, and are there cases where it’s not recommended? Discuss whether NIPT is suitable for your specific situation.

Asking these detailed questions can really help you feel prepared and informed about NIPT and any other genetic tests you’re considering during your pregnancy. It’s all about making sure you have the clarity and confidence to make the best choices for you and your little one on the way.

Discussing NIPT with a geneticist is ideal at 8-9 weeks

The best time to talk about the Non-Invasive Prenatal Test (NIPT) with our genetic counsellor is around 8-9 weeks into your pregnancy. Here’s why this timing works well:

  • You Can Decide Early: Talking early in your pregnancy gives you plenty of time to think about whether you want this test, which can be done starting at 10 weeks.
  • Get Ready for NIPT: Chatting before the test can help you understand what to expect and what the test can tell you about your baby’s health.
  • Think About Your Next Steps: It’s good to think ahead about what you’ll do with the test results, whatever they may be.
  • Learn About More Tests: It’s also a chance to hear about other tests you might consider during your pregnancy, all in one go.
  • Considering Carrier Screening: Some parents may also consider having carrier screening tests along with NIPT. These tests can help you find out if you or your partner carry genes for certain genetic conditions that could be passed to your baby.

This early chat helps make sure you’re informed and ready for whatever comes next, making your pregnancy journey a bit smoother.

High chance Combined Test results: what does it mean?

When you get a high-probability result from the NHS Combined Screening Test, it can be shocking and scary. This test looks for signs that might suggest a higher chance of certain conditions like Down syndrome in your baby. Here’s how our genetic counsellors can help you through it:

  1. Making It Clear: They’ll explain what your results actually mean in a simple way. Remember, these results don’t mean your baby definitely has a condition, just that we need to look a bit closer.

  2. What’s Next: Our counsellors can tell you about more detailed tests you can choose to have next, like a more specific blood test (NIPT) or tests that look directly at the baby’s cells (like CVS or amniocentesis). They also might offer a second-opinion scan by an ultrasound expert.

  3. Why This Happens: They can discuss why some pregnancies show these higher chances, helping you understand that it’s not anyone’s fault.

  4. Supporting You: It’s normal to feel all sorts of emotions. Our counsellors are here to listen, support, and help you through these feelings.

  5. Figuring Out What To Do: Depending on what more tests show, they can help you think about what comes next, whether getting ready for a baby with special needs or understanding your choices.

  6. Finding More Help: They can point you to groups and experts offering more support and information.

  7. Making Decisions: They’ll help you think through your choices about further testing or care, making sure you have all the info you need.

Our genetic counsellors are here to guide you through understanding your test results, what they might mean, and how you can handle everything. They’re a friendly ear and a helping hand all the way.

High probability NIPT results: Counselling

When your NIPT shows a high chance of a genetic condition, our geneticist can help you understand and decide what to do next in a simple way:

  1. Explaining Your Results: They’ll break down what the results mean, clarifying that “high chance” doesn’t mean certain, just that there’s a higher risk.

  2. Sharing Info on the Condition: You’ll learn about the condition flagged by NIPT, like how it might affect your baby and what to expect, all explained in easy-to-understand language.

  3. Talking About Next Steps: They’ll tell you about more detailed tests you can do, like CVS or amniocentesis, to get clearer answers and help you think through whether you want these tests.

  4. Second-Opinion Scan option explanation: Getting a detailed ultrasound from an expert can spot signs of the condition, like heart problems, which can give you even more information. This second-opinion scan can be a big help in understanding what’s going on and making decisions.

  5. Offering Personal Support: Every family is different, and our geneticist will listen to you, answer your questions, and offer support based on your needs.

  6. Helping Plan Ahead: They can guide you on what comes next, whether that’s planning for your baby’s care or thinking about your next steps in family planning.

  7. Finding More Help: You’ll be directed to support groups, specialists, and information that can help you feel less alone and more informed.

  8. Supporting Your Feelings: They’re here not just with facts but also to support you emotionally through this tough time.

Our geneticist is here to ensure that you have all the information and support you need to make the best choices for your family, clearly and understandably.

Before Pregnancy: preconception genetic tests

Preconceptional genetic counselling is like getting a roadmap for your future family’s health before you start the journey. Here’s why it’s helpful:

  • Knowing About Family Health Risks: It’s a chance to examine the health histories of both partners’ families. This helps determine whether there’s a risk of passing certain health issues to your baby.

  • De Novo Mutations: Sometimes, health issues that weren’t in the family can appear for the first time. While not everything is predictable or preventable, knowing about these can help you make choices about your pregnancy.

  • Reducing Risks: You’ll learn if there are ways to lower the chances of having a baby with genetic issues. Not all conditions can be avoided, but being informed helps you plan better.

  • Carrier Screening Tests: These tests check if you or your partner carry genes for conditions like cystic fibrosis without having the condition yourselves. Knowing this helps you understand if your baby could inherit these conditions and what options you have to avoid passing them on.

  • Exploring NIPT Options: Besides carrier screening, you can learn about Non-Invasive Prenatal Testing (NIPT) options available during pregnancy. NIPT can screen for genetic conditions like Down syndrome early on, offering peace of mind and more information for decision-making.

In simple terms, this counselling gives you important insights and advice about having a healthy baby, including what tests might be helpful before you get pregnant and early in the pregnancy.

Fertility Genetic
We now understand that a significant number of fertility issues are linked to genetics. This field is quickly growing and evolving.

Fertility genetics looks at how your genes can affect your ability to have children. Here’s what’s involved in simpler terms:

  1. Checking for Conditions You Can Pass On: Some health issues that can be passed down in families might affect whether you can have children. A test can show if you have genes for these.

  2. Looking at Your Chromosomes: Sometimes, people have extra or missing pieces in their chromosomes, making having children difficult. There are tests to check for this.

  3. Finding Genetic Reasons for Fertility Issues: Some reasons why couples have trouble having children can be linked to their genes, like hormonal imbalances in women or low sperm count in men.

  4. Testing Embryos Before Pregnancy: If you’re trying IVF (a fertility treatment), there’s a way to check the embryos for genetic issues before putting them in the womb, helping to make sure the baby will be healthy.

  5. Advice for Planning a Family: If there’s a big chance of passing on a health issue, a genetic counsellor can discuss different ways to have healthy children.

In simple terms, understanding your genetics can help determine why you might have trouble getting pregnant and what you can do about it.

SMART Test: Power of ultrasound and genetic
If you choose our signature SMART Test, we’ll include genetic counselling for free.

We’re convinced that having a chat with a genetic counsellor is key. It helps you get the full picture of what the SMART Test offers and weigh up its benefits against any considerations. This way, you can make a choice that feels just right for you.

The SMART Test, short for ‘Structural, Chromosomal, and Monogenic Anomalies Recognition Two-step Test,’ is our unique approach to prenatal care. Let’s break it down into simpler steps:

  • First Step (10-week scan and advanced NIPT panel): Around 10 weeks into your pregnancy, we perform an expert 10 Week Scan to get an early look at how your baby is developing. If the scan is normal, we start with the most advanced NIPT available to check your baby’s genetic health. 

  • Second Step (Early Fetal Scan and Echocardiography at 13-16 weeks): Between 13 and 16 weeks, we do a detailed scan of your baby’s body and heart. This helps us spot any structural issues or heart problems early on.

The SMART Test combines these two steps to give you a comprehensive overview of your baby’s health. It combines checking the baby’s physical development through scans with a deep dive into their genetic makeup. This way, you get all the critical info you need about your baby’s well-being early in your pregnancy, supporting you in making informed decisions.

Harmony NIPT Scan

10 Weeks Scan & NIPT

The best selection of advanced NIPT and ultrasound packages in London

basic

PrenatalSAFE

BASIC
Prenatal SAFE
extended

Panorama AI

EXTENDED
Panorama AI
Most advanced NIPT

Smart Test®

COMPREHENSIVE
Smart TEST®
As early as…
  • 10 weeks

  • 9 weeks

  • 10 weeks

Turnaround (Working Days)
  • 2-4

  • 5-7

  • 7-22

Lab Location
  • UK

  • US

  • UK+EU

No Call Results
  • 0.5%

  • 1%

  • 0.5%

Redraw Rate
  • 2%

  • 3%

  • 2%

Down, Edwards, & Patau Syndrome
Di George Syndrome (22q del)
Triploidy
Turner Syndrome (45X)
  • *

Sex chromosomes aneuploidies
All chromosomes
Chromosomal deletions & duplications
Microdeletions
  • 5 (+£200)

  • 9

Inherited monogenic disorders 
Important Genetic syndromes
Comprehensive anomaly Ultrasound screening
Fetal echocardiography
Fetal sex reveal (optional)
Scan & NIPT price
  • £540

  • £590

  •  from £1690 **

  • £790 for Microdeletions

  • **introduction offer

Best overall NIPT
Weeks 6-9

prenatalsafe

PrenatalSafe uses advanced genomics technology and a unique test algorithm. This NIPT offers secure performance when conducting a Down syndrome pregnancy test. In addition to Down’s (trisomy 21), this is a specialist test for Edwards (trisomy 18), and Patau (trisomy 13) syndromes, with the option to determine fetal sex.

Currently, we consider PrenatalSAFE as the best option for NIPT in London, because it is convenient, requires only one blood tube, and offers quick, reliable results with a very low no-call rate (0.5%).

Read more…

With 22q del
Week 10 & 11

Panorama AI

Panorama NIPT is a globally renowned advanced NIPT with a strong reputation for Down’s syndrome screening. Its standout feature is the validated capability to screen for Di George syndrome (22q11 microdeletion syndrome or 22q del), a chromosomal disorder impacting heart development and potentially causing intellectual disability, behavioural issues, and other abnormalities. This syndrome, affecting 1 in 2000 babies, is the second most common chromosomal condition after Down’s syndrome. 

Panorama AI however has a long turnaround time of up to 2 weeks due to international shipping to US-based lab.

Read more…

Cost-effective NIPT
Weeks 12 – 16

UNITY

UNITY Aneuploidy Screen is a new player in the NIPT market, and it offers very competitive pricing, making it the best cost-effective option for secure screening of Down’s syndrome and other common chromosomal abnormalities.

For expectant mothers with Rh negative blood group, UNITY Rh is particularly valuable as it can identify the fetal Rh blood group.

UNITY Carrier Screen stands out among other NIPTs as it can screen for a range of severe genetic disorders, including cystic fibrosis (CF), spinal muscular atrophy (SMA), sickle cell disease, and other fetal red cell genetic disorders.

Read more…

Comprehensive NIPT
Weeks 20-25

Smart Test

SMART TEST represents the unique and most advanced option of expert scan and extended NIPT package available. SMART TEST screens for:

  • 22 chromosomal anomalies (including Down’s syndrome)
  • 9 clinically significant NIPT microdeletions (including microdeletion DiGeorge syndrome)
  • 44 different genetic diseases (including Noonan syndrome)
  • 5 inherited single-gene disorders (including cystic fibrosis genetic testing)
  • Sex chromosome anomalies (including NIPT test for Turner syndrome)
  • Majority of severe structural anomalies (including spina bifida)
  • Majority of severe heart defects (including transposition of great arteries)

Read more…

Cancelled NIPT
Weeks 26 – 29

Harmony Test / TDL NIPT

Introduced by TDL (The Doctors Lab) a decade ago, the Harmony Test initially gained recognition in London. However, its reputation has been significantly damaged by notable occurrences of inconclusive results, constant delays in NIPT results reporting, an unacceptable failure rate and mistakes in fetal sexing. These lab challenges caused significant emotional distress for expectant parents.

In an unexpected move on August 29, 2023, TDL announced the discontinuation of the Harmony Test on September 13, 2023, and a shift to an alternative NIPT method based on a different technology used by other NHS providers.

Read more…

NIPT for special conditions (advanced or extended NIPT panels)

The perception of NIPT, also known as a pregnancy DNA test, among professionals and patients has traditionally centred around its basic screening capabilities, primarily targeting Down syndrome, Edwards syndrome, and Patau syndrome. This was indeed the case in 2011 when the first commercially available NIPT tests were introduced. However, over the past decade, remarkable advancements in human genomics have emerged, leading to the availability of highly advanced NIPT alternatives.

As the leading NIPT provider in London, the London Pregnancy Clinic has taken the initiative to review of all commercially available advanced NIPT options. Our aim is to meticulously select the most optimal options for each specific condition, ensuring the best possible care for expectant mothers and their babies.

Please note that most extended NIPT options are available only for singleton pregnancies.

Below is a list of diseases and conditions for which we offer extended NIPT options.

Rh negative mothers

UNITY RH

UNITY can identify the fetal Rh blood group starting from 10 weeks of pregnancy. This information is essential for determining whether Anti-D injection, a preventive treatment, is needed. This makes UNITY a unique choice for Rh negative mothers.

Rare diseases

Smart Test

Rare diseases are a leading cause of infant mortality and lifelong disability.

SMART TEST uses the most advanced ultrasound and genomic technology to screen for more than 100 rare diseases and anomalies.

Increased NT

Smart test

Increased NT (nuchal translucency thickness) is associated with various chromosomal and genetic conditions and fetal structural anomalies. SMART TEST is specially designed for early assessment of fetuses with increased NT. Please note that SMART TEST can not completely replace invasive testing.

DiGeorge syndrome

Panorama AI

Di George syndrome is caused by the absence of a specific segment of chromosome 22, leading to a severe condition that often impacts heart development and can be linked to varying degrees of intellectual disability, significant behavioural issues, and other abnormalities. An extensive international study confirmed that the Panorama test can effectively detect over 80% of fetuses with 22q deletion syndrome.

Fetal anomalies

Smart Test

In cases of fetal anomalies, diagnosing genetic conditions typically requires invasive tests like CVS or amniocentesis. Nevertheless, for parents who are reluctant to undergo these tests due to concerns about the risk of miscarriage, the SMART TEST offers a viable alternative option. Please note SMART TEST provides information about probability (not diagnosis).

Heart Defects

Smart Test

When it comes to fetal heart defects, the conventional approach to diagnose associated genetic conditions involves invasive procedures such as CVS or amniocentesis. However, for parents who are hesitant to undergo these tests due to fears of miscarriage, the SMART TEST provides a valid alternative. It’s important to note that the SMART TEST offers probability information rather than a definitive diagnosis.

Cystic fibrosis (CF)

UNITY complete

Cystic fibrosis (CF) is a genetic disorder characterized by the production of thick mucus that can affect the respiratory and digestive systems, leading to various serious health issues. While NHS runs a national screening program for CF, it is conducted after birth when the baby is already born with CF. UNITY offers the option for prenatal screening, enabling parents to obtain essential information about their baby’s health during pregnancy.

Spinal muscular atrophy

UNITY complete

Spinal Muscular Atrophy (SMA) is a rare genetic disorder that causes muscle weakness and atrophy due to problems with motor neurons in the spinal cord. The severity of SMA can vary, however, severe forms can resulted in significant disabilities and even death. CMA results from mutations in the SMN1 gene. UNITY’s sgNIPT Reflex technology provides prenatal screening for CMA.

Sickle cell anemia

UNITY complete

Sickle cell anaemia (SC) is a genetic blood disorder characterized by abnormally shaped red blood cells, leading to pain, anaemia, and other serious health problems. A mutation in the haemoglobin gene causes SC and is particularly common in people with an African or Caribbean family background.

UNITY’s sgNIPT Reflex technology provides non invasive prenatal screening for sickle cell anaemia.

Thalassaemia

UNITY complete

Thalassemia alpha and beta are inherited blood disorders characterized by abnormal haemoglobin production. Mutations in the haemoglobin gene lead to these conditions.

UNITY’s sgNIPT Reflex technology offers non-invasive prenatal screening for thalassemias. Please note that UNITY is a screening, not a diagnostic test. It provides information about the likelihood or risk of certain genetic conditions but does not provide a definitive diagnosis.

Twins

Panorama Ai

Panorama AI is the only test that can distinguish between identical (monozygotic) and non-identical (dizygotic) twins with a high level of accuracy. It is capable of detecting individual fetal fraction for dizygotic twins which is crucial for accurate Down’s syndrome screening for each individual twin. Panorama NIPT also can determine fetal sex for both babies. 

Vanishing twin

PrenatalSafe

PrenatalSafe is effective in situations involving the vanishing twin syndrome.

Panorama test has NOT been validated for this situation.

You will need to delay the NIPT for five weeks to reduce the chance of false positive results associated with vanishing twin syndrome.

Sex chromosome aneuploidy (SCA)

UNITY

The prenatal detection of Sex Chromosome Aneuploidies (SCAs) is more controversial than autosomal trisomies due to the broad range of possible physical and developmental issues associated with SCAs. Currently NHS does not support screening for SCA. NIPT for SCA is also less accurate and can increase the chance of false-positive results.

Turner syndrome

Optional for all NIPT panels

Turner syndrome is a sex chromosome aneuploidy (SCA) that occurs in females when one of the X chromosomes is missing. This condition can lead to various physical and developmental abnormalities, including short stature, heart defects, and infertility. Unfortunately, NIPT for Turner syndrome has a relatively high chance of false positive results (positive predicted value only 30%).

Triploidy

Panorama AI

Panorama is the only noninvasive method that can identify triploidy.

In most cases, triploidy can be indicated by our expert ultrasound scans due to its distinct ultrasound characteristics that are detectable during the first trimester.

Microdeletions

SMART TEST

Microdeletions are genetic abnormalities where a small part of a chromosome is missing. They can cause various health conditions and developmental disorders, depending on which genes are affected. SMART TEST screens for 9 common and clinically significant microdeletions. Panorama AI screens for 5 microdeletions. 

Frequently Asked Questions

Your questions answered

Understanding the statistics behind NIPT

It’s important for us that you understand the terminology we use for screening tests:

Detection rate is defined as the fraction of all patients who have the disease and are called positive by the screening test.

Positive Predictive Value or PPV is the proportion of the ‘true positives’ as proportion of all positive results. As a practical example, the Panorama AI test has a 95% PPV for Down’s Syndrome, meaning that 95% of the fetuses identified as ‘High Probability’ will statistically have the condition. However, the limitation of the test is that in 5% of the cases, it will result in a ‘false negative’ meaning that the test will return a ‘High Probability’ result for a fetus that doesn’t have Down’s Syndrome.

That’s why, for every High Probability result we would refer the patient for a diagnostic test such as CVS or Amniocentesis to verify the results.

In the past there has been confusion about certain aspects of NIPT – please see this notice. If any of the above still unclear to you, please get in touch with us via email or phone and our friendly stuff will be happy to run you through the characteristics of the test.

We wrote a special blog post about understanding the statistics of the NIPT test,  if you would like to find out more, click here.

What is NIPT? What is the Harmony test? What is Panorama NIPT?

Non-invasive prenatal testing (NIPT) or alternatively non-invasive prenatal screening (NIPS) is a screening method for determining the chance that a baby will be born with Down’s syndrome or other chromosomal anomalies. NIPT is based on the assessment of small DNA fragments from a baby’s placenta (named ‘cell-free DNA’ or ‘cfDNA’) that are disseminated in the blood of every pregnant mother. Placental cfDNA is usually identical to the DNA of the baby and testing it provides an opportunity for early detection of particular chromosomal anomalies without harming the baby.

The Harmony Test was a well-known NIPT brand by Ariosa/Roche. The Harmony Prenatal test was a trade name of the cfDNA test. We had the experience of using Harmony for many years. The Harmony Test performed by TDL in London in the last years suffered from a high rate of test failure and inconclusive results. Many our patients were unsatisfied by the test performance. In a dramatic move at the end of August 2023, TDL announced the termination of the test performance in a very short warning period of just two weeks.

Panorama AI NIPT (non-invasive prenatal screening) is an advanced NIPT, based on state-of-the-art algorithms, it has lower sample failure rate comparing with the harmony test and its price is more affordable for the future parents. The limitation of panorama NIPT is its long results reporting time (up to 10 working days) which is a result of sample shipping to US based Lab. 

Although cfDNA is a relatively new genetic test, it has been proven to be superior to any other screening tests for Down’s syndrome, including the combined screening test (CST) used by the NHS. However, NIPT can detect a relatively small proportion (about 15%) of all fetal anomalies, because the vast majority of fetal anomalies are physical (structural) and not chromosomal.

NIPT is a screening test, meaning that NIPT cannot give a definitive answer about whether a baby has Down’s syndrome or other tested chromosomal conditions. If the results are positive (high chance) follow-up invasive testing is needed to get a definite diagnosis. Any invasive testing carries a small risk of miscarriage.

Do you offer Illumina VeriSeq™ NIPT Solution v2?

During September 2023, The Doctor’s Laboratory (TDL Genetics) who had the exclusive rights for performing the Harmony Test NIPT in the UK, announced that it had ceased offering the test. 

As an alternative, the laboratory opted to offer VeriSeq™ NIPT Solution v2 which has been used by other laboratories in the UK for a couple of years. At London Pregnancy Clinic, we chose to use PrenatalSAFE, that uses the same apparatus as Illumina’s NIPT test, but has better validation data and more experience with using the technology.  

Why choose PrenatalSafe NIPT?
  • Advanced genetic technology
  • Whole-Genome Sequencing (WGS)
  • Proved performance for Down’s syndrome screening
  • Less no-call results (<2%)
  • Fast results: 3-5 working days
Why choose Panorama AI?
  • Advanced genetic and artificial intelligence (AI) technology
  • Available from 9 weeks
  • Di George Syndrome (22q del) screening
  • Triplody screening
  • Less no call results (1.4%)
  • Better fetal fraction cutoff (2.8%)
  • Option of additional microdeletions screening (for an additional fee)
  • Option of additional single-gene mutations across 30 genes screening by Vistara NIPT (for an additional fee)
  • Cheaper option at £200 (vs £240)
I’VE NEVER HEARD ABOUT DIGEORGE SYNDROME (22Q DEL), WHY DO YOU OFFER SCREENING FOR THIS CONDITION?

22q deletion (del) syndrome or Di George syndrome is a genetic condition, which is caused by a small, missing or “deleted” piece of the 22nd chromosome. Unfortunately, that missing piece can affect every system in the human body including the heart (heart defects in 75% babies), palate, immune system, hormones, kidneys and others. It also can affect mental health and is associated with learning and behavioural differences, anxiety, and other mental health issues like schizophrenia (in 25% of adults).

Panorama AI can detect >80% of the fetuses with 22q del with a positive predictive value of 53%. Early detection of 22q del can lead to earlier interventions and better outcomes for affected individuals. For instance, in our clinic, we can perform early fetal echocardiography from 12 weeks to exclude severe heart anomaly associated with 22q del.

For more information, please visit www.22q.org

What are the limitations of Panorama Test?
  • Longer turnaround time: up to 10 working days. This is due to the time taken to transfer the samples to the US based lab.
  • Application of extended diagnostic panels (sex chromosomes, triploidy, 22q del, microdeletions) increase the chances for false positive and inconclusive results. The positive or inconclusive results of the test in some cases do NOT covered by NHS and you may require private genetic counselling and possible private invasive test (CVS or amniocentesis) for your own expense.
WHAT ARE THE NHS NUCHAL TRANSLUCENCY/COMBINED TEST FIGURES?

Currently NIPT is not routinely offered by the NHS.

The nuchal translucency (NT) thickness measurements scan was developed in the 1990s, and at the time was the best screening option for Down’s syndrome offering about 62% accuracy and a 5% false positive rate. The NHS now offers the ‘combined test’ at 11-14 weeks which includes a nuchal translucency scan along with a blood test (for PAPP-A and HCG proteins) with improved the accuracy of 81% and false positive rate of 4.5%.

NIPT was first introduced in 2011 and was shown to have superior accuracy to the combined test with a 99.99% detection rate and sub 0.1% false negatives. Please note, we still recommend following through with your NHS antenatal appointments, they are important for the continuity of your pregnancy care.

Which chromosomal conditions does the PrenatalSafe Test (instead of Harmony Test) at London Pregnancy Clinic cover?

We offer NIPT for the following:

  • Down’s syndrome (T21)
  • Edwards syndrome (T18)
  • Patau syndrome (T13)
  • fetal sexing
    NIPT FOR SEX CHROMOSOME ABNORMALITIES AND MICRODELETIONS

    Some biotechnological companies/manufacturers of NIPT, including Panorama AI and UNITY, which London Pregnancy Clinic offers, have launched commercially available products aiming to screen for sex chromosome abnormalities, microdeletions (including 22q del) and/or single-gene disorders.

    Although the tests are technologically advanced, the peer-reviewed validation data for those tests is patchy, and the accuracy is inferior to the tests for T21, T18 and T13.

    In the UK, the NHS considers the use of those tests controversial and, as such, unlikely to accept a ‘high probability’ or ‘inconclusive’ test results as a referral for further invasive testing or genetic counselling.

    If you choose to have those advanced options, we will guide you and arrange private genetic counselling in the case of high-chance NIPT results. Please note that this can incur additional expenses. 

    Why 10 weeks is the best time to perform NIPT?

    We recommend taking the NIPT along with our comprehensive early anomaly scan (10-week scan) as soon as possible – 10 weeks. Early detection of either chromosomal or structural anomalies allows more time in terms of pregnancy management for those conditions. If your sample fails, you have plenty time for redraw.

    If you’re unsure about the age of your pregnancy, we strongly recommend performing a viability scan with us at around 7-8 weeks of your gestation. The viability scan will date your pregnancy and we can arrange the earliest possible appointment for your NIPT.

    If you’d prefer not to have the viability scan, please allow a couple of days after the 10-week mark to avoid repeat appointments for drawing the bloods. You can also miss all the advantages of the 10-week scan, because your baby will be too young to have a proper early anomaly scan. 

    In theory, NIPT is available from 9-40 weeks, but it is strongly recommended to take the test in the first trimester, as the pregnancy management options in the second trimester can be very limited. 

    Can I do NIPT at 9 weeks?

    Yes, you can. Panorama AI works from 9 weeks. Please note that in this case, structural assessment of the baby by ultrasound can be limited and we will be unable to screen for some very serious conditions like holoprosencephaly or spina bifida. If you wish to have NIPT before 10 weeks, please consider a scan from 9 weeks 4 days.

    How are the NIPT results communicated?

    Following your ultrasound scan appointment, you will receive a detail scan report from our doctors, as a hard copy and a PDF version sent to you via our secure cloud system Tricefy.

    As soon as we receive your NIPT test results from the laboratory, our clinician reviews the test results and signs them off. One of our friendly clinical staff will then contact you via a phone call to interpret the test results. We will then send you a soft copy of the test results via Tricefy.

    Who is NOT eligible for a non-invasive prenatal screening (NIPT)?

    The majority of NIPT are  NOT validated and cannot be used in pregnancies with:

    • a history of or active malignancy
    • a pregnancy with triplets, quadruplets or higher order
    • a history of bone marrow or organ transplants
    • mosaicism for the parents
    • maternal aneuploidy (chromosomal abnormality)
    • in women under the age of 18

    Please note that IVF pregnancies are eligible for a NIPT

    What is the processing time for the NIPT blood test?

    Turnaround time of the harmony test in London is about 3-5 working days in 95% of the cases. For panorama, the tests are sent over to the US and can take up to 5-9 working days.

    From our clinic the sample is securely collected by a specialist medical courier service.

    See the below information about the harmony test no-call results and redrawing the blood sample (no additional cost.)

    What are the advantages of NIPT?

    The main advantages of NIPT are related to Down’s syndrome (T21) screening.

    They are:

    • early testing from 10 weeks
    • high negative predictive value for T21
    • high detection rate for T21
    • low false-positive rate for T21
    What are the limitations of NIPT?

    As any screening test NIPT has some disadvantages.

    Here there are the most significant NIPT limitations:

    • relative high cost of the cfDNA test (Harmony Test)
    • whilst a very sensitive screening test, it is not diagnostic
    • cannot detect ANY physical (structural) anomaly
    • very limited effectiveness for the babies that have increased nuchal translucency (NT) thickness or physical (structural) anomaly
    • processing time of up to a week (or longer in 5% of the cases) or even 10 days for Invitae NIPS
    • failure to return a result in up to 5% of women (‘no-call’ results) which is more common for Harmony Test
    I have never heard about PrenatalSafe NIPT, should I choose it?

    Currently, we consider PrenatalSafe as the best option for NIPT in London, because it provides advanced technology, low no-call results, and a short turnaround time (the lab is UK based). PrenatalSafe can be considered the best replacement for the outdated Harmony Test.

    Pros:

    • advanced technology
    • reliable screening for Down’s syndrome
    • uses a small amount of maternal blood
    • short turnaround time
    • low no-call rates
    • works for vanishing twin syndrome
    • highly reputable in Europe

    Cons:

    • Limited experience using the test in London
    I have never heard about Panorama NIPT, should I choose it?

    The main advantages of the brand-new panorama AI algorithm comparing with other NIPT providers are:

    • £200 test cost. This transparent price solution makes our combination of expert ultrasound scan and NIPT to be the most advanced and cost-effective option for early reassurance of the parents
    • Fewer no-call results (1.4%) than other NIPT providers
    • Low fetal fraction cull-off (only 2.8%)
    • Extended diagnostic panel: option to screen for Di George Syndrome ( 22q del), Turner syndrome, triploidy and other conditions for an additional fee. 

     The main disadvantages of Panorama Test are:

    • Longer turnaround time of 7-10 working days because of blood sample transfer to North America-based Natera Laboratory.
    • Higher chance for false-positive and inconclusive results.
    What if my NIPT results show high chance for a chromosomal anomaly?

    In case the NIPT result shows a high chance for Down syndrome or other conditions, our doctor will contact you and explain the further steps we advise to take. We will most likely arrange a referral to your NHS fetal medicine unit for further counselling and possible diagnostic test such as CVS or amniocentesis.

    Alternatively, we can refer you to a private fetal medicine consultant (consultation cost is not included in our service).

    We will also offer early fetal echocardiography for free (regular cost of the examination £320) for all our patients with high chance NIPT for trisomy 21, Di George syndrome, trisomy 18, trisomy 13 and Turner syndrome.

    What are the reasons for NIPT false positive results?

    Although our NIPT options are very accurate, some positive high chance for Downs syndrome results are false and the baby does not in fact have trisomy 21.

    Biological factors with the potential to cause discordance between cfDNA results and the baby’s genetic status include uncommon conditions like confined placental mosaicism, fetal mosaicism, maternal chromosome changes, and the presence of an unrecognised, nonviable (or viable) twin.

    What do NIPT no-call results mean?

    Most pregnant women receive complete results from cfDNA testing, indicating either a high or low probability for aneuploidy.

    In about 3% of cases (much more common with a harmony test) we will need to contact you without giving you a test result and ask you to come in for an additional sample of blood or to give us more information about your pregnancy or medical history. There will be no extra cost for an additional mother’s blood test.

    It is because in small proportion of blood specimens submitted after 10 weeks gestation there is an insufficient amount of the baby’s cfDNA. This situation is called low fetal fraction. The chance to have low fetal fraction is getting higher with increased maternal body weight. There are other rare factors making NITP results inconclusive.

    In the case of a harmony test no-call result, we will discuss options of alternative screening and/or referral for diagnostic testing if you either decline a second attempt at NIPT or do not receive a result after two attempts.

    Our NIPT Refund Policy

    The harmony scan can only be done from a gestational age of 10 weeks, while panorama NIPT can be done from 9 weeks. TDL/Natera do not accept any blood samples for patients below that gestational age. We recommend waiting until a gestational age of 10 weeks + 2 days (9+4 for panorama) to perform the harmony/panorama scan to avoid having to come in more than once.

    In case you booked for a panorama/harmony scan, but the ultrasound scan indicated a GA below 9/10 weeks (respectively), we will have to rearrange for you to come in at a later date for an additional cost of £50 to cover for our staffing cost.

    In the case of no-call results from the test (about 3% of the cases), we will be happy to schedule in another time to draw another blood sample free of charge. In case of a second no-call result, we will refund the harmony test portion of the appointment charge as per below. If, upon discussion with our clinician, you decide that the harmony test is not the right decision for you, we will refund the harmony test proportion of the appointment and will only charge for the scan.

    In the case of inconclusive results for Downs syndrome or trisomies 18 or 13, we are committed to refunding the harmony test cost.

    Because the harmony test is being undertaken by a third party, TDL (The Doctors Laboratory), we will contact them to arrange the refund. The refund will be for the harmony test only (we cannot compensate the cost of ultrasound) and will be processed in a few business days.

    There is no reimbursement for inconclusive fetal sex results. In those rare cases we will offer you an anatomy and gender scan for a reduced cost and will discuss the findings and need for further referrals.

    Should I delay the NIPT for 12-14 weeks and perform it after my NHS NT Scan?

    No, we think it is outdated approach and the best way is to perform both the 10 week anomaly scan and NIPT at 9-10-11 weeks. The benefit of this approach is that the tests are performed as early as technically possible.

    Understandably it will be impossible to visualise some fetal structures and organs at 10 weeks and some structural anomalies will be undiagnosed at this very early stage. Keeping this in mind, we recommend performing our early fetal scan at 15-16 weeks for further reassurance and exclusion of majority severe structural anomalies.

    Learn more about our early pregnancy scans.

    I have a pregnancy with a vanishing twin, can I do NIPT?

    Vanishing twin is a situation with twin pregnancies when the embryo or fetus in one of the sacs fails to develop or dies at the early stages of pregnancy. Interpretation of NIPT in the case of a vanishing twin phenomenon is complicated due to contamination of the sample by DNA of a non-developing twin pregnancy.

    Our advanced NIPTs: PrenatalSafe and UNITY can be used in this situation.

    Delaying the NIPT by five weeks is a recommended approach to reduce the chances of false-positive results associated with the vanishing twin syndrome.

    Do you want to know more about your options of NIPT?

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