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KNOVA NIPT

Targeted Expanded Genomic NIPT: a curated cfDNA test for serious, actionable conditions - the best screening option for increased NT.

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7-10 days

Typical turnaround time for results

Fast lab processing means most parents receive their results within a few working days.

£990

All-inclusive cost

Includes the KNOVA NIPT test, secure sample collection, analysis, and a consultation with a Jeen genetic counsellor.

97.8%

KNOVA Detection rate for Down’s, Edwards’ and Patau’s syndromes.

Conditions like Trisomy 21, 18, and 13 can occur even without family history. Screening helps identify risk early in pregnancy.

1 in 150*

Pregnancies are affected by the conditions screened by KNOVA.

*This number is based on UK prevalence data for conditions screened by Fulgent's KNOVA NIPT.

Table of contents

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How does KNOVA fit our SMART NT protocol?

Here’s how KNOVA perfectly slots into the SMART NT pathway.

  • Step One (10 weeks): After 10 Week Scan diagnose increased NT (≥ 2.5 mm) and confirms eligibility (and rules out NIPT-exclusion findings such as acrania, limb–body-wall complex, etc.), we draw KNOVA the same visit. KNOVA is our default genomic screen for iNT because it covers aneuploidies + key microdeletions + selected monogenic syndromes that commonly underlie increased NT.
  • Step Two (12–13 weeks): Targeted anatomy + early fetal echo. We integrate KNOVA results with ultrasound phenotyping and the NT trend (improving/stable/increasing).

Why KNOVA is the NIPT of choice for high NT?

  • Broader check in one blood test: KNOVA screens the common trisomies (21, 18, 13) and many extra conditions often linked to a high NT - sex-chromosome changes, important microdeletions (e.g. 22q11.2/DiGeorge), and selected single-gene (monogenic) syndromes (e.g. Noonan spectrum, some skeletal disorders).
  • Most genetic causes of increased NT are de novo, not inherited; KNOVA prioritises screening for de novo changes
  • More coverage than other NIPT brands: It looks for far more than the standard and other extended panels
  • Can flag monogenic problems that routine invasive tests (karyotype or microarray alone) may miss unless additional gene sequencing is done.
  • Fast turnaround (extended panel): results typically in ~2 weeks.
  • Cost-effective for the depth of analysis: competitively priced given the breadth (aneuploidies, key microdeletions, selected monogenic conditions).
  • Very low no-call rate: <1%, with a clear redraw policy.
  • Still a screen, not a diagnosis: A high-chance KNOVA result needs CVS/amnio to confirm. A low-chance result lowers risk but doesn’t make it zero.
  • Best used with expert ultrasound: Combine KNOVA with targeted scans at 10 and 12–13 weeks to look for features and track NT change - this guides next steps and prognosis.
  • Transparency: KNOVA uses a newer technology; we’ll explain its strengths and limits so results are understood and acted on appropriately.

What conditions does KNOVA screen for?

KNOVA offers the broadest panel of any NIPT, screening for both chromosomal and monogenic conditions. It’s supported by Fulgent’s industry-leading sequencing platform, capable of analysing over 18,000 human genes.

  • All major trisomies: Down’s (21), Edwards’ (18), Patau (13), plus rare trisomies (15, 16, 22)
  • Sex chromosome conditions: Turner and Klinefelter syndromes, and more
  • 56 single-gene (monogenic) disorders: Like Noonan syndrome, CHARGE, Cornelia de Lange, tuberous sclerosis, skeletal dysplasias.
  • 12 microdeletion syndromes: Including DiGeorge syndrome (22q11.2).

How does KNOVA differ from other NIPT brands?

KNOVA uses a novel genomic approach for cfDNA analysis, which differs from all previously developed NIPTs. It is a third-generation NIPT technology called coordinative allele-aware target-enrichment sequencing (COATE-seq). This method combines aspects of previous cfDNA approaches and incorporates multidimensional analysis.

Unlike “genome-wide (GW) NIPTs”, which perform shallow analysis across all chromosomes, KNOVA uses deep next-generation sequencing targeted to about 2,000 critical loci of the human genome. This approach improves accuracy and lowers the chance of inconclusive results.

As a result, KNOVA is technologically much more advanced compared with previous NIPT brands; however, the test is less validated because it is very new (launched in 2024) and its clinical application is still limited.

What are the limitations of KNOVA?

While KNOVA is the most complete prenatal screening available, it isn’t suitable for every pregnancy. KNOVA cannot be used in the following situations:

  • Twin or triplet pregnancies
  • Pregnancies with egg donation
  • Cases of vanishing twin syndrome
  • Mothers with a history of bone marrow or organ transplant
  • Recent or active maternal cancer.
  • Parental mosaicism or chromosomal abnormalities

KNOVA is also a screening test, not a diagnostic one. If any result shows a high risk, you may still need further testing (like CVS or amniocentesis) to confirm the result.

What exactly does KNOVA test for?

KNOVA Prenatal Screening (NIPT/NIPS) Full Panel (data from Fulgent Genetics):

Aneuploidies: 45X, 47XXX, 47XXY, 47XYY, Trisomy 13, Trisomy 15, Trisomy 16, Trisomy 18, Trisomy 21, and Trisomy 22

Microdeletions: 11q23q25 del, 15q11.2-q13 del, 17p11.2 del, 18p del, 18q22q23 del, 1p36 del, 22q11.2 del, 2q33 del, 4p16 del, 5p15 del, 8q23q24 del, and 9p del

Monogenic: ASXL1, BRAF, CBL, CD96, CDKL5, CHD7, COL10A1, COL11A1, COL1A1, COL1A2, COL2A1, EBP, EFNB1, ERF, FGFR1, FGFR2, FGFR3, FLNB, FREM1, GLI3, HDAC8, HNRNPK, HRAS, KAT6B, KMT2D, KRAS, LMNA, MAP2K1, MAP2K2, MECP2, NIPBL, NRAS, NSD1, NSDHL, PTPN11, RAD21, RAF1, RIT1, RUNX2, SHOC2, SKI, SLC25A24, SMC1A, SMC3, SNRPB, SOS1, SOS2, SOX9, SPECC1L, STAT3, TCF12, TRAF7, TSC1, TSC2, TWIST1, and ZIC1

What are alternative brands for high NT?

KNOVA is a distinct, third-generation cfDNA platform, so there’s no true like-for-like substitute.

If unavailable, the closest options are PrenatalSafe Complete Plus (Eurofins Genoma, Italy) or a combined pathway of Panorama + Vistara (Natera, US). Both rely on more traditional technologies and, in our experience, offer narrower conditions coverage, less curated panels with higher chance of false positive/inconclusive results, longer turnaround, and (paradoxically!) often higher cost due to a less efficient workflow. (Any high-chance result still requires confirmation by CVS/amniocentesis.)

Can KNOVA be used if NT is normal?

Yes, definitely. A normal NT does not rule out genetic conditions, and KNOVA still adds value:

  • Covers risks NT can miss: Majority chromosomal/microdeletions/monogenic conditions (often de novo) will present with a normal NT at 10-14 weeks. An examples are Rett syndrome and Tuberous Sclerosis Complex (TSC)
  • Broader than basic NIPT: Screens common trisomies plus key microdeletions and curated single-gene syndromes relevant to early screening.
  • Fits the SMART Test® pathway: a one-stop 10-week visit for early anomaly scan (10 Week Scan) and KNOVA blood draw, with NIPT results in about two weeks.
  • Practical benefits: Early information, low no-call rate, and clear next steps if a result is high-chance (targeted scan and CVS/amniocentesis for confirmation).

Why choose a specialist clinic for KNOVA?

KNOVA is a complex genomic test, and parents benefit from clear guidance. A specialist clinic should provide pre-test counselling to explain what KNOVA can and cannot reveal, an expert 10 Week Scan to confirm suitability (and to identify situations where NIPT is not helpful), and specialist genetics input to interpret any high-chance result.

If a result is high-chance, the pathway should include a detailed 12–13-week scan (with early fetal echocardiography) to refine the prenatal phenotype, followed by referral to targeted diagnostic testing CVS or amniocentesis - directed to the specific finding.

Any fetal medicine clinic offering KNOVA should work closely with Fulgent Genetics to ensure smooth logistics, accredited processing, clear reporting, and rapid support for redraws or complex results.

Disclaimer! The information provided in this article is for educational purposes only and is based on NHS recommendations. It is not a substitute for professional medical advice. Always consult your doctor or a qualified healthcare provider for advice on medical conditions or treatments.

Comparison Table

Basic and advanced Knova options compared to help you choose the right test for your pregnancy.

KNOVA NIPT Focused Comparison

KNOVA Comprehensive NIPT

Condition Basic NIPT Knova
Test Performance & Logistics
Gestational Age Requirement 10 weeks 10 weeks
Turnaround Time (working days) 7-10 days 7-22 days
Lab Location UK USA
No Call Rate 2% 1.5%
Standard Chromosomal Conditions
Trisomy 21 (Down Syndrome)
Trisomy 18 (Edwards Syndrome)
Trisomy 13 (Patau Syndrome)
Trisomy 15 -
Trisomy 16 -
Trisomy 22 -
Sex Chromosome Aneuploidies
Turner Syndrome (45,X)
Klinefelter Syndrome (47,XXY)
Triple X Syndrome (47,XXX)
Jacob's Syndrome (47,XYY)
Microdeletions
DiGeorge Syndrome
1p36 Deletion Syndrome
Angelman Syndrome
Cri-du-chat Syndrome
Prader-Willi Syndrome
Wolf-Hirschhorn Syndrome
Jacobsen Syndrome
Langer-Giedion Syndrome
Smith-Magenis Syndrome
9p Deletion Syndrome
18p Deletion Syndrome
18q22.3 Deletion Syndrome
De Novo/Inherited Monogenic Conditions - Group L
Noonan Syndrome
Cornelia de Lange Syndrome
Osteogenesis Imperfecta
Stickler Syndrome
Rett Syndrome
Crouzon/Pfeiffer Syndrome
Cleidocranial Dysplasia
CHARGE Syndrome
Cardiofaciocutaneous Syndrome
Bohring-Opitz Syndrome
Sotos Syndrome
Tuberous Sclerosis (TSC1)
Tuberous Sclerosis (TSC2)
Craniosynostosis (TWIST1)
Craniosynostosis (EFNB1)
Craniosynostosis (ERF)
Craniosynostosis (TCF12)
Kabuki Syndrome

References

  • The Great Flood: It rained for 40 days and 40 nights.
  • The Israelite Exodus: The Israelites wandered in the desert for 40 years.
  • Moses' time on Mount Sinai: He spent two separate periods of 40 days and nights receiving the Law.
  • Moses' early life: He lived 40 years in Egypt and 40 years in the desert.
  • The spies: Moses sent 12 spies to explore the promised land for 40 days.
  • Elijah: He traveled for 40 days and nights to reach Mount Horeb.
  • David and Goliath: Goliath taunted the Israelites for 40 days before David defeated him.
  • Jonah: Jonah warned the city of Nineveh that it would be overthrown in 40 days.
  • Ezekiel: He lay on his right side for 40 days to bear the iniquity of Judah.
  • Jesus' temptation: Jesus fasted and was tempted for 40 days in the wilderness.
  • Jesus' post-resurrection appearances: 40 days passed between his resurrection and ascension into heaven.
  • Lent: This 40-day period is a time of prayer and fasting in remembrance of Jesus' time in the desert.

Genetic
Counselling

Frequently
Asked Questions

What’s the difference between basic and advanced NIPT?

Basic NIPT screens for the three most common chromosomal conditions: Down’s syndrome (Trisomy 21), Edwards’ syndrome (Trisomy 18), and Patau’s syndrome (Trisomy 13). Advanced NIPT includes everything in the basic test, but can also check for sex chromosome conditions, some rare genetic deletions (called microdeletions), and can tell you the biological sex of the baby if you choose to know. At Jeen, our genetic counsellors will help you decide which version is right for you during your consultation.

Why do I need to send my scan before doing the NIPT?

We ask you to send us your scan so our medical team can confirm that you’re at least 10 weeks pregnant and that the pregnancy appears to be developing normally. This helps us ensure the test is appropriate and that the results will be accurate. It’s also important to understand that NIPT only screens for specific genetic conditions. It does not detect structural anomalies, such as heart defects or issues with organ development, which are physical rather than genetic. These types of conditions are usually picked up later in pregnancy through detailed ultrasound scans. Sending your early scan allows our doctors to check for any concerns before moving forward with the NIPT.

Can I do NIPT at home?

No - genetic testing shows your risk, not a guarantee. Some people with a genetic variant never develop the condition, while others without a variant might still be affected due to lifestyle or environmental factors.

Can NIPT tell me the sex of my baby?

Yes, NIPT can usually identify the baby’s biological sex with high accuracy, but this is completely optional. If you’d like to know, just let your genetic counsellor know during your consultation — and if you’d rather not find out, we’ll make sure it’s not included in your report.

Is NIPT covered by the NHS?

At the moment, NIPT is only offered through the NHS in certain cases — for example, if you’ve had a high-risk result from a standard screening test. At Jeen, we offer private NIPT testing with flexible options, fast results, and full clinical support, including at-home appointments and expert guidance.

How long does it take to get results?

Your results will usually be ready within 2–10 working days from the time your sample arrives at our partner lab. The exact turnaround time depends on which NIPT you’ve chosen and the location of the laboratory. We’ll keep you informed throughout the process and arrange a follow-up consultation to talk you through your results as soon as they’re ready.

Please note that delays can occur during public holidays in both the UK and the US. If your results indicate that follow-up testing is needed for your partner, we’ll act quickly to keep everything moving smoothly. Our priority is to get you the answers you need without unnecessary delays — so you can make confident, informed decisions for your pregnancy.

When can I take the NIPT and is it safe?

You can take the NIPT from 10 weeks into your pregnancy. Before booking your test with Jeen, we ask you to send us a recent pregnancy scan, such as a dating or viability scan, so our team of specialists can confirm you’re eligible to proceed.

Yes, NIPT is completely safe for both you and your baby. It’s a non-invasive blood test that only requires a small sample from your arm, and there is no physical contact with the baby. This means there is no risk of miscarriage or harm to the pregnancy, unlike some invasive procedures.

How accurate is NIPT?

NIPT is over 99% accurate at detecting Down’s syndrome and also highly reliable for Edwards’ and Patau’s syndromes. It is more accurate than standard NHS screening and produces fewer false positive results, which means fewer people are sent for unnecessary follow-up testing.

Do I need genetic counselling before NIPT?

Yes, at Jeen we believe it’s important that everyone taking NIPT has a chance to speak to a qualified genetic counsellor first. This session helps you understand what the test covers, what it doesn’t, and what the results might mean for you and your baby. It’s a space to ask any questions and make confident, informed choices.

What happens if my NIPT result is high risk?

If your result shows a high risk for a condition, we’ll arrange a follow-up session with one of our genetic counsellors to explain exactly what it means. You’ll be given the option to have a diagnostic test, such as amniocentesis or CVS, which can confirm the result. We’ll support you at every step, with clear information and no pressure.

Will NIPT detect all possible conditions?

No, NIPT screens for a specific set of genetic conditions, mostly involving extra or missing chromosomes. It won’t detect all birth defects or structural anomalies, such as heart defects or limb differences. That’s why it’s important to still attend all your routine scans and check-ups during pregnancy.

NIPT Testing Options

NIPT gives you a safe and early look at your baby’s health, explore the conditions we can screen for during pregnancy.

Type of Cancers

Type of Cancers

We offer expert advice and testing for a range of genes that may increase your risk of developing certain types of cancer.

View Full Gene List

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