Non-Invasive Prenatal Testing

Non-invasive prenatal testing (NIPT) is a maternal blood test that analyses placental cell-free DNA to screen for chromosomal and monogenic syndromes.

Because NIPT analyses cfDNA and cannot detect fetal structural anomalies, it must be combined with ultrasound, such as a 10 Week Scan, for structural assessment.

NIPT is highly accurate but not diagnostic; positives require confirmation by CVS or amniocentesis.

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How it works

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What is NIPT?

NIPT (non-invasive prenatal testing) is: a blood test that analyses placental (fetal) cell-free DNA (cfDNA) in maternal blood to screen for fetal chromosomal and selected single-gene (monogenic) conditions.

The placenta develops from the same fertilised egg as the baby and therefore largely shares the baby’s genetic make-up. Placental cells are continually shed and, as they break down, release small fragments of cfDNA into the mother’s blood.

Modern genetic laboratories can distinguish placental (fetal) cfDNA from maternal DNA, analyse it, and use bioinformatic algorithms to screen for specific fetal conditions. NIPT is completely safe, as it uses just maternal blood sample, and highly accurate, but it is a screening test - not diagnostic.

NIPT for high NT 

While standard NIPT focuses on trisomies 21, 18 and 13, advanced cfDNA assays can also screen many high NT- associated conditions

1

Chromosomal aneuploidies

Down syndrome, other aneuploidies, and sex chromosome anomalies

2

Microdeletions

DiGeorge Syndrome and other copy-number variants (CNVs)

3

Monogenic Conditions

Most genetic syndromes are monogenic, such as Noonan syndrome

NIPT brandnames

NIPT brand names can be confusing: different laboratories market similar tests under different trade names, and the brand alone rarely reveals the exact scope or performance without reading the fine print. When choosing NIPT, we focus on three factors: Laboratory credibility (accreditation, experience/volume, audit data, redraw policy, counselling support). Panel scope (which conditions are included: trisomies, sex chromosomes, microdeletions, and any monogenic panels; opt-in/opt-out options). Performance characteristics (sensitivity, specificity, PPV, test failure/no-call rates, fetal-fraction handling, turnaround time).

Lesson from "Harmony Test"

Harmony Test in the UK is a cautionary tale: a strong brand name and slick marketing eclipsed scrutiny of performance characteristics. Promoted as “the best NIPT”, it delivered only a basic panel and performed poorly, with a high no-call rate. Harmony’s 22q del screening attempt failed to achieve acceptable performance and has been withdrawn. Later unreliable results affected many patients, causing anxiety and delays. The UK lab subsequently discontinued Harmony and moved to more reliable NIPT platforms. Unfortunately many UK doctors and patients still (incorrectly) refer to NIPT as “Harmony".

Power of NIPT

NIPT is very good at ruling things out

NIPT generally has a very high negative predictive value (NPV): i.e., when the result is reported as low risk, the probability that the fetus truly does not have the screened condition is very high. However, it remains a screening test. Positive or discordant results require confirmatory invasive diagnostic testing (chorionic villus sampling or amniocentesis), and interpretation is often complemented by phenotypic characterisation on ultrasound.

NIPT vs Combined Test

Same targets, better performance

NIPT offers higher detection and much lower false-positive rates than CST for T21, T18 and T13. NIPT significantly reduces unnecessary invasive procedures. It’s a simple maternal blood test from ~10 weeks. Many services use a contingent approach: perform CST for all, then offer NIPT to those with a high-chance CST result (or relevant scan findings) instead of proceeding straight to CVS/amniocentesis. Any high-chance NIPT result should still be confirmed with CVS or amniocentesis.

NIPD vs NIPT

Non-invasive prenatal diagnosis

NHS Genomic Medicine Service uses the term non-invasive prenatal diagnosis (NIPD). NIPD is a diagnostic test on maternal blood for specific, known monogenic conditions using validated cfDNA assays; in these cases, invasive confirmation is not required. It is considered diagnostic because it is targeted: either a bespoke, validated test for a known familial variant, or applied when the fetus shows phenotypic features strongly suggestive of a particular syndrome (e.g., FGFR3-related thanatophoric dysplasia). By contrast, basic NIPT screens for chromosomal anomalies and is not diagnostic.

Monogenic NIPT for NT

NIPD technology for screening

Monogenic commercial NIPTs (e.g., KNOVA) use cfDNA methods similar to NHS NIPD and target comparable genes; however, because they are delivered as a broad screen (KNOVA currently screens 56 pathogenic genes, including FGFR3), they are classified and reported under NHS definitions as NIPT, with positives requiring traditionally invasive confirmation. In the context of increased NT, the pathway remains unclear; for example, an FGFR3-related thanatophoric dysplasia flagged on KNOVA NIPT would likely still be confirmed by targeted NHS NIPD.

Advanced NIPT Options

Learn about our carefully selected list of genes relating to your baby's health.

Panorama NIPT - Conditions and Performance

Panorama NIPT £790

NIPT Conditions and Performance - statistics from provider

Provider
Natera
Unique Features
Triploidy Detection
Sample Type
Maternal Blood
Gestational Age
≥9 weeks
Condition/Syndrome Detection Rate Prevalence Associated Genes
Autosomal Trisomies
Trisomy 21 (Down Syndrome) 99.0% 1:700 Chromosome 21
Trisomy 18 (Edwards Syndrome) 94.1% 1:5,000 Chromosome 18
Trisomy 13 (Patau Syndrome) 99.0% 1:16,000 Chromosome 13
Sex Chromosome Aneuploidies
Turner Syndrome (45,X) 94.7% 1:2,500 X Chromosome Monosomy
Klinefelter Syndrome (47,XXY) 73.1% 1:650 XXY
Triple X Syndrome (47,XXX) 73.1% 1:1,000 XXX
Jacob's Syndrome (47,XYY) 73.1% 1:1,000 XYY
Other Chromosomal Abnormalities
Triploidy (69,XXX/XXY/XYY) 99.0% 1:10,000 Complete Extra Chromosome Set
Microdeletion Syndromes
DiGeorge Syndrome 83.3% 1:4,000 22q11.2 deletion (TBX1, COMT, PRODH)
1p36 Deletion Syndrome 99.0% 1:5,000 1p36 deletion (TNFRSF18, GABRD)
Angelman Syndrome 95.5% 15,000 15q11-q13 deletion (UBE3A)
Cri-du-Chat Syndrome 99.0% 1:30,000 5p15 deletion (TERT, SLC6A3)
Prader-Willi Syndrome 93.8% 1:25,500 15q11-q13 deletion (SNRPN, NDN)
Fetal Sex Determination
Female Fetus Identification 99.9% ~50% XX Chromosome Complement
Male Fetus Identification 99.9% ~50% XY Chromosome Complement
KNOVA Prenatal Screen - Conditions and Performance

KNOVA Prenatal Screen £990

NIPT Conditions and Performance - statistics from provider

Provider
Fulgent
Unique Features
Monogenic Disorders
Sample Type
Maternal Blood
Gestational Age
≥10 weeks
Condition/Syndrome Detection Rate Prevalence Associated Genes
Autosomal Trisomies
Trisomy 21 (Down Syndrome) 97.8% 1:800 Chromosome 21
Trisomy 18 (Edwards Syndrome) 97.8% 1:5,000 Chromosome 18
Trisomy 13 (Patau Syndrome) 97.8% 1:25,000 Chromosome 13
Trisomy 15 97.8% <1:1,000,000 Chromosome 15
Trisomy 16 97.8% N/A Chromosome 16
Trisomy 22 97.8% N/A Chromosome 22
Sex Chromosome Aneuploidies
Turner Syndrome (45,X) 97.8% 1:2,000 X Chromosome Monosomy
Klinefelter Syndrome (47,XXY) 97.8% 1:800 XXY
Triple X Syndrome (47,XXX) 97.8% 1:1,000 XXX
Jacob's Syndrome (47,XYY) 97.8% 1:1,000 XYY
Microdeletion Syndromes
DiGeorge Syndrome >99.9% 1:4,000 22q11.2 deletion (TBX1, COMT, PRODH)
1p36 Deletion Syndrome >99.9% 1:5,000 1p36 deletion (TNFRSF18, GABRD)
Wolf-Hirschhorn Syndrome >99.9% 1:35,000 4p16 deletion (WHSC1, LETM1)
Cri-du-Chat Syndrome >99.9% 1:30,000 5p15 deletion (TERT, SLC6A3)
Langer-Giedion Syndrome >99.9% <1:1,000,000 8q23q24 deletion (EXT1, TRPS1)
9p Deletion Syndrome >99.9% <1:1,000,000 9p deletion (DOCK8, KANK1)
Jacobsen Syndrome >99.9% 1:75,000 11q23q25 deletion (FLI1, ETS1)
Angelman Syndrome >99.9% 1:15,000 15q11.2-q13 deletion (UBE3A)
Prader-Willi Syndrome >99.9% 1:22,500 15q11.2-q13 deletion (SNRPN, NDN)
Smith-Magenis Syndrome >99.9% 1:15,000 17p11.2 deletion (RAI1)
18p Deletion Syndrome >99.9% N/A 18p deletion (TGIF1)
18q22q23 Deletion Syndrome >99.9% N/A 18q22q23 deletion (SALL3, NFATC1)
Monogenic Conditions
Noonan Syndrome >98% 1:1,000-2,500 PTPN11, SOS1, RAF1, KRAS, NRAS, BRAF, SHOC2, CBL
Cornelia de Lange Syndrome 96.7% 1:10,000-30,000 NIPBL, SMC1A, SMC3, RAD21, HDAC8
Osteogenesis Imperfecta 95% 1:10,000-20,000 COL1A1, COL1A2
Stickler Syndrome 99% 1:7,500-9,000 COL11A1, COL2A1
Rett Syndrome 89.5% 1:10,000 MECP2
Achondroplasia 98.2% 1:15,000-40,000 FGFR3
Crouzon/Pfeiffer Syndrome 99% 1:25,000 FGFR2
Cleidocranial Dysplasia 75.5% 1:100,000 RUNX2
CHARGE Syndrome 98% 1:8,500-12,000 CHD7
Kabuki Syndrome 98.3% 1:32,000 KMT2D
Tuberous Sclerosis (TSC1) 94% 1-2:10,000 TSC1
Tuberous Sclerosis (TSC2) 94% <1:1,000,000 TSC2
Craniosynostosis (TWIST1) 50.3% 2-4:100,000 TWIST1
Craniosynostosis (EFNB1) 94% N/a EFNB1
Craniosynostosis (ERF) 93.6% N/a ERF
Craniosynostosis (TCF12) 93% N/a TCF12
Smith-Lemli-Opitz (CDKL5) 79% 1:50,000 CDKL5
Sotos Syndrome 43.7% 1:14,000 NSD1
PrenatalSafe Complete Plus - Conditions & Performance

PrenatalSafe Complete Plus £1,490

NIPT Conditions and Performance - statistics from provider

Provider
Eurofins Genoma
Unique Features
Genome-wide CNVs
Sample Type
Maternal Blood
Gestational Age
>10 weeks
Condition/Syndrome Detection Rate Prevalence Associated Genes
Autosomal Trisomies
Trisomy 21 (Down Syndrome) 99.54% 1:700 Chromosome 21
Trisomy 18 (Edwards Syndrome) 100% 1:5,000 Chromosome 18
Trisomy 13 (Patau Syndrome) 100% 1:16,000 Chromosome 13
Sex Chromosome Aneuploidies
Turner Syndrome (45,X) 98.11% 1:2,500 X Chromosome Monosomy
Klinefelter Syndrome (47,XXY) 100% 1:650 XXY
Triple X Syndrome (47,XXX) 100% 1:1,000 XXX
Jacob's Syndrome (47,XYY) 100% 1:1,000 XYY
Rare Chromosomal Aneuploidies
All Other Autosomal Aneuploidies 99% Variable Chromosomes 1-22
Chromosomal Deletions and Duplications
Genome-wide CNVs 99% 1:1,000 All Chromosomes (>7MB)
Microdeletion Syndromes
DiGeorge Syndrome 83.33% 1:4,000 22q11.2 deletion (TBX1, COMT, PRODH)
Cri-du-Chat Syndrome 83.33% 1:30,000 5p15 deletion (TERT, SLC6A3)
Prader-Willi Syndrome 83.33% 1:22,500 15q11.2-q13 deletion (SNRPN, NDN)
Angelman Syndrome 83.33% 1:15,000 15q11.2-q13 deletion (UBE3A)
1p36 Deletion Syndrome 83.33% 1:5,000 1p36 deletion (TNFRSF18, GABRD)
Wolf-Hirschhorn Syndrome 83.33% 1:35,000 4p16 deletion (WHSC1, LETM1)
Jacobsen Syndrome 83.33% 1:75,000 11q23 deletion (FLI1, ETS1)
Langer-Giedion Syndrome 83.33% <1:1,000,000 8q24 deletion (EXT1, TRPS1)
Smith-Magenis Syndrome 83.33% 1:15,000 17p11.2 deletion (RAI1)
Inherited Monogenic Disorders
Noonan Syndrome (8 variants) N/a 4-10:10,000 PTPN11, SOS1, RAF1, KRAS, NRAS, BRAF, SHOC2, CBL
De Novo Monogenic Disorders
Bohring-Opitz Syndrome N/a <1:1,000,000 ASXL1
Cardiofaciocutaneous Syndrome N/a 4-10:10,000 BRAF, MAP2K1, MAP2K2
CHARGE Syndrome N/a 6-12:100,000 CHD7
Osteogenesis Imperfecta N/a 5-7:100,000 COL1A1, COL1A2
Stickler Syndrome N/a 1:10,000 COL2A1
Crouzon/Pfeiffer Syndrome N/a 1-9:100,000 FGFR2
Achondroplasia N/a 1-2:10,000 FGFR3
Cornelia de Lange Syndrome N/a 1-10:100,000 HDAC8
Alagille Syndrome N/a 1-3.3:100,000 JAG1
Rett Syndrome N/a 4-10:100,000 MECP2
Cornelia de Lange Syndrome (Classic) N/a 1-10:100,000 NIPBL
Sotos Syndrome N/a 7-8:100,000 NSD1
Schinzel-Giedion Syndrome N/a 1:>1,000,000 SETBP1
Holoprosencephaly N/a 1:16,000 SIX3
Optional Features
Fetal Sex Determination 99.9% ~50% X/Y Chromosomes (Optional)

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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

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 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.

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