KNOVA NIPT (SMART Test) in London

We trust KNOVA, developed by Fulgent Genetics, because of its cutting-edge technology and comprehensive genetic testing capabilities. Fulgent Genetics is renowned for its robust genomic testing platform, which combines advanced sequencing techniques with sophisticated data analysis. This allows KNOVA to offer a broader scope of prenatal screening, including detecting rare genetic disorders and a wide array of chromosomal abnormalities.

As with any other NIPT screening, KNOVA is not diagnostic; it is a critical first step in identifying high-risk pregnancies.

Unrivalled Breadth in Prenatal Screening. KNOVA stands out as an extended NIPT that screens the widest panel of chromosomal and genetic conditions available.

Understanding NIPT Options: Basic vs Extended. Typically, NIPTs come in two forms: basic and extended. Basic NIPTs, such as the Harmony Test or PrenatalSafe 3UK, primarily detect common chromosomal syndromes like Down, Edwards, and Patau syndromes. These tests may also determine the baby’s sex. In contrast, extended NIPTs, including the Panorama Test, PrenatalSafe Complete Plus, UNITY, and KNOVA, cover a broader spectrum of fetal genetic conditions. These can identify rare syndromes and even assess the fetal blood group.

While many providers offer both basic and extended options, the coverage varies significantly across different tests. This variation often stems from the diverse genetic technologies employed by biogenetic companies, potentially leading to confusion among parents making critical prenatal decisions.

Why Choose KNOVA? To simplify choices for expectant parents, Fulgent has developed KNOVA as a single, all-encompassing NIPT option. It aims to cover as many genetic conditions as possible, ensuring broad and effective prenatal screening.

The SMART Test: A Synergy of Advanced Technology and Extensive Screening. London Pregnancy Clinic, a leader in expert ultrasound and NIPT, is proud to present the SMART Test. This advanced offering combines the latest ultrasound technology with the most sophisticated NIPTs available, including soon-to-be-integrated KNOVA.

Choose the SMART Test at London Pregnancy Clinic for an in-depth understanding of your baby’s health and genetic predispositions. Contact us today to learn more about how the SMART Test, featuring KNOVA, can provide the insights you need for peace of mind during your pregnancy journey.

At London Pregnancy Clinic, KNOVA is not the fastest NIPT available due to the logistics involved. The test is conducted in the US, and some time is lost while shipping samples. If your primary concern is screening for Down syndrome only, our UK-based PrenatalSafe test, with a turnaround time of 2-5 days, might be a more suitable option.

However, Fulgent’s KNOVA offers unbeatable performance with an extended NIPT panel for those requiring a more comprehensive analysis. Excluding the shipping time (which can be variable), no other company can match the breadth and depth of testing Fulgent provides within a 7-10 day timeframe.

Initially, our Fetal Medicine Doctor or Advanced Sonographer will perform a detailed anatomical assessment of your baby. They focus on identifying any structural anomalies and gathering measurements for the NIPT.

After confirming the baby’s normal structural assessment, they will offer a consultation about the NIPT. During this consultation, you can ask questions and understand every aspect of the test. Our team will help you choose the NIPT best suited to your needs.

Then, our friendly phlebotomist will take a small blood sample from your arm — much like routine blood tests you might have elsewhere.

Once we’ve collected your blood sample, our dedicated staff will promptly process it and send it off to the laboratory. After your appointment, the only thing left is to wait for a call from our team with your results.

Ultrasound is crucial in the comprehensive assessment of fetal health. To ensure precise results, the laboratory requires confirmation of viability and gestational age from the clinic submitting each NIPT.

While NIPT is an excellent screening tool for chromosomal anomalies and genetic syndromes, it’s vital to recognise its limitations in detecting structural anomalies, such as heart or brain defects. These anomalies, often more critical and common than Down’s Syndrome, are not detectable through NIPT.

At London Pregnancy Clinic, we excel in the early detection of fetal anomalies, with a particular focus on the fetal heart and brain. Our expertise enables us to identify some of the most serious fetal anomalies as early as the 10th week of pregnancy. This commitment to early detection and specialised care distinguishes us in securing the best possible outcomes for both you and your baby’s health.

Visit our Scans Page to find out which scan you will be having along with NIPT. Generally, we believe that our 10 Weeks Scan is the best option.

Can KNOVA NIPT screen for hereditary diseases? No. KNOVA primarily screens for de novo diseases like Down syndrome, which typically arise from genetic errors during conception in genetically healthy parents. However, Fulgent Genetics, the provider of KNOVA, is renowned for its carrier screening tests for hereditary disorders. BEACON’s Expanded Panels, developed by Fulgent, can screen for 1,008 genes, addressing both common and rare risks across all ethnicities.

At London Pregnancy Clinic, we are soon introducing paternal carrier screening as an addition to our extended NIPT panels. Don’t hesitate to contact us with any enquiries.

KNOVA is not suitable for twin or triplet pregnancies. The advanced sequencing technology that Fulgent uses to screen such a broad panel of conditions has only been validated in singleton pregnancies, so we are unable to offer KNOVA when you are expecting more than one baby. This is a limitation of the test itself rather than anything to do with your pregnancy.

The good news is that other options remain open to you. If you are carrying twins, our team can talk you through the NIPT choices that are validated for multiple pregnancies, and our expert ultrasound remains central to your care. Please get in touch with our team or read more about our twin pregnancy scans so we can help you choose the most appropriate screening pathway.

KNOVA is not available for pregnancies conceived using a donor egg. Because the test analyses cell-free DNA and has only been validated in pregnancies where the egg came from the person carrying the baby, a donor-egg (or surrogacy) pregnancy falls outside its validated use. This restriction reflects how the technology was developed and tested, not the health of your pregnancy.

If you have conceived with a donor egg, there are alternative extended NIPT and screening options we can offer, and it is worth discussing these with a specialist so you understand what each test can and cannot tell you. Our genetic counselling service can help you weigh up the choices, or simply contact our team and we will guide you to the most suitable pathway for your circumstances.

The SMART Test (NIPT) stands out as the epitome of advanced non-invasive prenatal testing packages globally. It integrates cutting-edge ultrasound technology alongside the most sophisticated NIPT available. This comprehensive package encompasses screening not only for Down syndrome but also for approximately 100 distinct severe rare genetic diseases.

This all-encompassing test comprises two expert fetal scans, and PrenatalSafe Complete Plus, or KNOVA NIPT

Developed by the London Pregnancy Clinic, a leader in expert ultrasound and NIPT, the SMART Test offers the ultimate solution for parents seeking the most comprehensive assessment of their baby’s health and genetic profile. By combining state-of-the-art ultrasound techniques with advanced genetic screening technologies, the SMART Test is the pinnacle of options for parents who wish to gain the utmost knowledge about their unborn babies.

We recommend performing the SMART Test at 10 weeks. Press here for more information about our SMART Test package.

Non-Invasive Prenatal Testing (NIPT), also known as Non-Invasive Prenatal Screening (NIPS), serves to evaluate the likelihood of conditions such as Down’s syndrome or other chromosomal and single gene disorders in unborn babies. NIPT analyses small DNA fragments from the baby’s placenta, known as ‘cell-free DNA’ or ‘cfDNA’, which circulate in the bloodstream of pregnant mothers. This placental cfDNA generally mirrors the baby’s DNA, allowing early identification of certain chromosomal anomalies without risk to the pregnancy from the test itself.

It’s crucial to understand that NIPT is a screening test, meaning it does not confirm whether the baby has Down’s syndrome or other chromosomal conditions. Should the results show a high chance, further invasive testing is required for a definitive diagnosis. However, bear in mind that such invasive testing carries a slight risk of miscarriage.

According to data from Fulgent, in a study involving over 1000 high-risk pregnancies, KNOVA achieved a 98.5% sensitivity rate and a 99.3% specificity rate. This performance compares favourably to standard diagnostic tests, both prenatal invasive and postnatal, for the multiple conditions screened—not just Down’s syndrome.

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

We cannot specify precisely, as it remains a company commercial secret. However, we believe that Fulgent, a highly renowned genomic company with the capability to examine over 18,000 human genes, is confident that integrating their microdeletions and monogenic screening platforms will significantly boost NIPT’s performance. Fulgent possesses advanced genetic tools essential for developing and implementing this test. Their preliminary data indicate that including targeted monogenic conditions alongside chromosomal abnormalities (aneuploidies and microdeletions) resulted in a 60.7% increase in the detection rate.

KNOVA screens for 5 types of chromosomal syndromes associated with severe health/mental conditions or possible fetal demise:

• Trisomy 21 – Down syndrome
• Trisomy 18 – Edwards syndrome
• Trisomy 13 – Patau syndrome
• Trisomy 15
• Trisomy 16
• Trisomy 22

KNOVA screens for 12 chromosomal microdeletions associated with severe health/mental conditions:

• 1p36 del- 1p36 deletion syndrome
• 2q33 del – 2q33.1 deletion syndrome
• 4p16 del – Wolf-Hirschhorn syndrome
• 5p15 del – Cri-du-Chat syndrome
• 8q23q24 del – Langer-Giedion syndrome
• 9p del – 9p deletion syndrome
• 11q23q25 del – Jacobsen syndrome
• 15q11.2-q13 del – Prader-Willi syndrome / Angelman syndrome
• 17p11.2 del – Smith-Magenis syndrome
• 18p del – 18p deletion syndrome
• 18q22q23 del – 18q deletion syndrome
• 22q11.2 del – 22q11.2 deletion syndrome (DiGeorge syndrome)

KNOVA screens for 56 genes associated with 30+ monogenic conditions. Among them are:

• Noonan syndrome
• Noonan spectrum disorders (RASOpathies)
• Skeletal dysplasias
• Craniosynostoses
• CHARGE syndrome
• Cornelia de Lange syndrome
• Tuberous sclerosis complex
• Sotos syndrome
• and many others

We strongly recommend undertaking the NIPT alongside our comprehensive early anomaly scan, the 10 Weeks Scan, as soon as possible—ideally at 10 weeks into your pregnancy. Early detection of chromosomal or structural anomalies offers greater flexibility in managing these conditions throughout your pregnancy. Should there be a sample failure, there is sufficient time for a redraw without any delays.

If you are unsure about the exact stage of your pregnancy, we recommend our Viability Scan at around 7-8 weeks. This scan determines the age of your pregnancy, enabling us to schedule your NIPT at the earliest opportunity.

If you decide against the Viability Scan, please wait a few days after reaching the 10-week mark to avoid the need for repeat blood collection appointments. Coming too early may also mean missing out on the full benefits of the 10 Weeks Scan if your baby is too young for a thorough early anomaly assessment.

While NIPT can technically be conducted from 10 to 40 weeks, we strongly advise opting for the test in the first trimester. Management options for pregnancy become more limited as the second trimester progresses.

The KNOVA Prenatal Cell-Free DNA Screening has not been validated for use in pregnancies involving:

• a history of or active malignancy
• IVF pregnancies using an egg donor
• a pregnancy with twins, triplets, quadruplets or higher-order
• vanishing twin syndrome
• a history of bone marrow or organ transplants
• mosaicism for the parents
• maternal aneuploidy (chromosomal abnormality), microdeletion or single-gene disorder

After your scan, our medical experts will provide you with a detailed scan report in both printed form and as a PDF, securely delivered through our cloud platform, Tricefy.

Once we receive the NIPT test results from the laboratory, our clinicians will review and authorise them. Following this, a member of our friendly clinical team will contact you by phone to discuss the implications of your results. We will then send you an electronic version of the results via Tricefy for your reference.

KNOVA is not a diagnostic tool and should not be used as the sole basis for making decisions about your pregnancy. It is designed to identify if your pregnancy has a higher-than-average risk of a severe disorder, allowing you the option to consider further diagnostic testing if needed. As KNOVA is a non-invasive test, it presents a relatively low risk and serves as an excellent initial screening option.

Should the NIPT indicate a high chance of Down syndrome or another condition, our specialists will contact you to explain the recommended next steps. Typically, high-risk results require confirmation through diagnostic tests, such as CVS (Chorionic Villus Sampling) or amniocentesis.

Our medical and administrative teams are committed to supporting you through challenging times. They will do everything possible to facilitate smooth and prompt arrangements for further genetic counselling and diagnostic procedures, should they be necessary.

No, KNOVA NIPT is not suitable in cases of vanishing twin syndrome.

Vanishing twin syndrome occurs in twin pregnancies when one embryo or fetus does not develop or perishes early in pregnancy. This condition complicates NIPT interpretation due to DNA contamination from the non-developing twin. Similarly, Panorama NIPT is unsuitable under these circumstances.

However, we offer a specific solution for pregnancies impacted by this rare condition: the PrenatalSafe Test, designed to be effective in cases of vanishing twin syndrome. Please contact us to learn more.

Validation study for KNOVA Prenatal Cell-FreeDNA Screening (NIPT/NIPS) was published in Nature.

Zhang J, et al. Prospective prenatal cell-free DNA screening for genetic conditions of heterogenous etiologies. Nat Med. 2024 Feb;30(2):470-479.

Abstract:

Prenatal cell-free DNA (cfDNA) screening uses extracellular fetal DNA circulating in the peripheral blood of pregnant women to detect prevalent fetal chromosomal anomalies. However, numerous severe conditions with underlying single-gene defects are not included in current prenatal cfDNA screening.

In this prospective, multicenter and observational study, pregnant women at elevated risk for fetal genetic conditions were enrolled for a cfDNA screening test based on coordinative allele-aware target enrichment sequencing. This test encompasses the following three of the most frequent pathogenic genetic variations: aneuploidies, microdeletions and monogenic variants.

The cfDNA screening results were compared to invasive prenatal or postnatal diagnostic test results for 1,090 qualified participants.

The comprehensive cfDNA screening detected a genetic alteration in 135 pregnancies with 98.5% sensitivity and 99.3% specificity relative to standard diagnostics. Of 876 fetuses with suspected structural anomalies on ultrasound examination, comprehensive cfDNA screening identified 55 (56.1%) aneuploidies, 6 (6.1%) microdeletions and 37 (37.8%) single-gene pathogenic variants.

The inclusion of targeted monogenic conditions alongside chromosomal aberrations led to a 60.7% increase (from 61 to 98) in the detection rate.

Overall, these data provide preliminary evidence that a comprehensive cfDNA screening test can accurately identify fetal pathogenic variants at both the chromosome and single-gene levels in high-risk pregnancies through a noninvasive approach, which has the potential to improve prenatal evaluation of fetal risks for severe genetic conditions arising from heterogenous molecular etiologies.

KNOVA is not a diagnostic tool and should not solely guide decisions about your pregnancy. It is designed to detect if there is a higher-than-average risk of a severe disorder, offering you the possibility of further diagnostic testing.

While the data from invasive tests like CVS or amniocentesis are generally more conclusive, these tests often do not assess for monogenic disorders associated with increased nuchal translucency (NT), such as Noonan syndrome, Kabuki syndrome, and Thanatophoric dysplasia.

An exome analysis would be required, and the NHS has stringent criteria for such tests, which generally do not apply merely for increased NT. In our view, KNOVA is the NIPT of choice in cases of increased NT, providing a valuable screening option when detailed diagnostic testing may not be feasible.

Please contact us if you would like more information regarding NIPT options for fetuses with increased NT.

Yes. Through our trusted partner Jeen Health, you can book a KNOVA NIPT test at home anywhere in the UK.

Before your test, Jeen’s specialists will review your scan to confirm suitability. You’ll also have a 20-minute consultation with a genetic counsellor to guide your choice.

Blood collection can be arranged locally, at our London clinics, or via a nationwide home phlebotomy service (+£65). Kits are shipped by next-day delivery, and results are returned securely online.

Whether you’re in Leeds, Birmingham or Edinburgh, you can access KNOVA NIPT with Jeen Health.

Not through London Pregnancy Clinic — every NIPT we offer includes an expert ultrasound scan. The scan confirms your pregnancy is viable, dates it accurately and checks it is suitable for testing, which is why we do not offer the blood test on its own.

If you cannot get to our London clinic, our partner Jeen Health offers NIPT across the UK, including KNOVA. You will need to provide proof of a pregnancy scan taken within the last 7 days before your blood sample is taken.