Trisomies by NIPT

Prev Next
Yourgene Health | the IONA® test

The IONA® test is Yourgene’s proprietary Non-Invasive Prenatal Test (NIPT) for pregnant women which estimates the risk of a fetus having Down’s syndrome (Trisomy 21), Edwards' syndrome (Trisomy 18) and Patau’s Syndrome (Trisomy 13) from as early as 10 weeks gestation.

Trisomies occur when three, instead of the usual two, copies of a chromosome are present. Edwards’ and Patau’s syndromes are much rarer than Down’s but are very serious and many affected babies do not survive.

The IONA® test is an advanced screening assessment that detects these copies from a maternal blood sample.

How do I get the most complete prenatal screening?

Traditional first trimester screening offered during pregnancy is called the First Trimester Combined Test (FTCT). This is an ultrasound scan to measure the nuchal translucency (NT) and a blood test.

This method is less accurate at detecting fetal trisomies (85-90%) but can help with the early detection of both maternal and fetal complications.

The IONA® test has the option to incorporate the result of the FTCT into the calculation to offer you the most comprehensive and tailored prenatal screen.

Indications Detected

Down’s Syndrome

(Trisomy 21)

Down’s Syndrome

seen in about 1 in 691 to 873 live births

(Reference 1, 2)

Edwards' Syndrome

(Trisomy 18)

Edwards' Syndrome

seen in about 1 in 3762 to 11744 live births

(References 1, 2)

Patau’s Syndrome

(Trisomy 13)

Patau’s Syndrome

seen in about 1 in 7906 to 41944 live births

(References 1,2)

the IONA® test Highlights

Yourgene Health | the IONA® test | 99% detection rate

Detection rate

Turnaround time

Sample type

Re-draw rate

*Monday-Friday Service


    • Suitable for women from 10 weeks gestation

    • Suitable for all singleton and twin pregnancies

    • Suitable for IVF or surrogate pregnancies

    • Optional fetal sex determination for single or monochorionic twin pregnancies

    • Unsuitable for women who have cancer, received an organ transplant, carry a chromosomal imbalance, had a transfusion of heterologous cells in the last year or who have complete or partial monosomy X (Turner’s Syndrome)

Like all other non-invasive prenatal tests (NIPT), the IONA® test is a screening test and high-risk results should be confirmed by a follow-up invasive procedure such as amniocentesis. 


1) Mai CT, Kucik JE, Isenburg J, Feldkamp ML, Marengo LK, Bugenske EM, Thorpe PG, Jackson JM, Correa A, Rickard R, Alverson CJ Kirby RS and for the National Birth Defects Prevention Network. Selected Birth Defects Data from the Population-Based Birth Defects Surveillance Programs in the United States, 2006 to 2010: Featuring Trisomy Conditions. Birth Defects Res A Clin Mol Teratol 2013 97(11): 709-25. (

2) NCARDRS Congenital Anomaly Official Statistics Report 2020 2.3. Prevalence of babies with Down’s syndrome, Edward’s syndrome and Patau’s syndrome (

Yourgene Health | the IONA® test

A Private Provider's View on NIPT

Non-Invasive Prenatal Screening (NIPT) is available in the form of the IONA® test and IONA® Care from Yourgene Health’s Genomic Services laboratory in Manchester, UK.

The IONA® test requires a maternal blood sample from the 10th week of gestation and uses next generation sequencing to determine the likelihood that the pregnancy is affected by trisomy 21, 18 or 13.

Read our Your Expert article with Helen Stanley, from The Midwife Company.

Yourgene Health | the IONA® test
Yourgene Health | Our Company | Your Expert | YEX009 - The Truth About Statistics in NIPT

The Truth About Statistics in NIPT

Like all screening tests, NIPT results that fall into the high-chance category still need to be confirmed by other diagnostic methods, such as amniocentesis or chorionic villus sampling, but its higher accuracy means that fewer women need these invasive procedures.

With the growing adoption of this method, there has been reported confusion around its accuracy and ‘diagnostic’ capabilities, which can leave patients more uncertain and anxious. The aim of this paper is to explain the essential statistics related to NIPT, and how they should be communicated to patients, so they can walk away with adequate and clear information.

Read the full Your Expert article 'The Truth About Statistics in NIPT'

Yourgene Health - Your Comment Logo

"The partnership between Yourgene Health and the six NHS hospitals that took part in the study worked really well. The research teams were hardworking, passionate and dedicated to the study and has led to a great piece of research. They were a joy to work with and we look forward to the opportunity to collaborate again in the future."

Victoria Hutchinson

Clinical Lead, Yourgene Health plc

View the full Your Comment articles below

NIPT for Sex Chromosome Aneuploidies and Autosomal Aneuploidies. A Q&A with Dr Greg Fitzgibbon - 26 May 2021

NIPT for Sex Chromosome Aneuploidies and Autosomal Aneuploidies. A Q&A with Dr Greg Fitzgibbon – 26 May 2021

Yourgene Health has recently launched IONA®Care, an advanced prenatal screening test that performs whole-genome analysis to measure the likelihood that a pregnant woman is carrying a fetus with one the most common trisomies (trisomy 21, 18 and 13), any other Autosomal Aneuploidy (AA) or a Sex Chromosome Aneuploidy (SCA). IONA® Care is available from the Yourgene Genomic Services laboratory in Manchester, UK. The test is available as a menu, enabling pregnant women, their families and clinicians to only find out information on the conditions specifically requested. Yourgene felt this was the responsible thing to do as screening for AAs and SCAs and the follow-up counselling can be more complicated than the more common trisomies and therefore felt this additional information should be optional. We spoke with Dr Greg Fitzgibbon, our Director of Clinical Affairs, to find out more about screening for AAs and SCAs and the clinical implications and benefits.

Dr Greg Fitzgibbon, PhD, DipRCPath, HCPC – Director of Clinical Affairs

Dr Greg Fitzgibbon, PhD, DipRCPath, HCPC - Director of Clinical Affairs

Greg is a Clinical Laboratory Director with New York State Department of Health Certificate of Qualification and provides the clinical expertise required for Yourgene Health’s expanding business and product portfolio. Greg previously lead the operations team in performing product development, as well as ensuring the compliance to regulatory requirements and performing business management activities.

Greg holds a Doctorate in Molecular Biology, he is a Diplomate of the Royal College of Pathologists and has over 8 years management experience in Clinical Science for the NHS. He also has over 8 years involvement with the inception, growth and development of Biotechnology businesses including Syngenta, Gen-Probe, Hologic and Epistem on top of validating technologies for corporate giants including GSK and Government Institutions.

When thinking about testing for SCAs and AAs, are there particular groups of women who are at a higher risk of having a baby that is affected by one of the conditions? For example, we know that the risk of having a baby affected by Down’s syndrome increases with maternal age; is the same true for these other conditions and are there other factors that affect the incidence? 

Yes, like Down’s syndrome SCAs and AAs are aneuploidy syndromes and therefore the incidences of certain SCAs and AAs increase as maternal age increases. This is caused due to an erroneous event called nondisjunction, essentially a failure of homologous chromosome to separate within the egg, which occurs more frequently with advanced maternal age. I say ‘certain’ SCAs however because in the case of Turner Syndrome (monosomy X) there is much higher incidence of sperm production errors therefore the majority of cases of Turners are paternal in origin.

What are the clinical benefits of testing for SCAs and AAs? 

For SCAs, the main clinical benefit is earlier detection of the conditions. Unlike Down’s syndrome and the more common autosomal trisomies, SCAs can sometimes have quite subtle features on ultrasound scans which can make them more difficult to detect prenatally. Consequently, a large proportion of cases, particularly Klinefelter’s syndrome (47,XXY) are identified and diagnosed either postnatally, at puberty, or even later on in life (if at all). Routine SCA screening using NIPT allows for the detection of these conditions prenatally from 10 weeks gestational and at no risk to the fetus. This approach not only provides parents with insight, but facilitates improved care by allowing clinical teams to arrange patient care and obstetric management as appropriate.

For AAs there is the opportunity for improved patient management by providing information around recurrence risks. The vast majority of AA cases are not viable and unfortunately will often end in miscarriage. In these cases, the identification of AAs offers clinical benefit as it has determined that the cause is not hereditary, but is in fact a random (nondisjunction) event and therefore recurrence is less likely in subsequent pregnancies.

Should a result come back as high risk, what would the recommended next step be? What would the clinical pathway be? 

Testing approaches can vary depending on the testing laboratory and local regulations but the next steps in the testing pathway should always be to discuss the results carefully with the clinician/genetic counsellor in consideration with the patient’s medical background, preferences, test limitations, positive predictive values for the conditions and the need for further confirmatory testing. NIPT is a screening test, not diagnostic; it is recommended that high-risk results be confirmed using diagnostic methods. This may well require invasive sampling either by chorionic villus sampling (CVS) or amniocentesis in order to karyotype the fetus using either cytogenetic or molecular methods (or both).

If the invasive testing confirms the screening result a general clinical pathway would be a consultation where a clinician would speak to the parent(s) and would explain the findings, provide them with sufficient information so that they can make an informed choice regarding their next steps.

How does this test compare to the current pathway for identifying babies affected by these conditions? 

The current testing pathway requires invasive sampling of placental or fetal cells by CVS or amniocentesis respectively. CVS is taken at around 10-13 weeks and amniocentesis at around 14-18 weeks gestation, whereas NIPT can be taken as early as 10 weeks gestation. The invasive sampling methods do have the added benefit of being used in diagnostic testing as opposed to screening testing but there is a risk of miscarriage of up to 2% for CVS and 1% for amniocentesis sampling which is negated by the NIPT approach. NIPT only requires a small blood sample from the mother which present no risk to the fetus. If the invasive samples are used for cytogenetic investigations, they will require cell culture with expected reporting times of up to 14 days. Molecular applications including QF-PCR can however provide preliminary results in less than 24 hours.

What support is available for families should they get a high risk result and subsequently confirmed via a diagnostic procedure? 

There are several support organisations for families and families would be signposted by their healthcare providers. Antenatal Results and Choices (ARC) offer non-directive individualised information and support to parents. We have included some support organisations below, please note this list is not exhaustive and is provided for information only. Inclusion on this list does not indicate an endorsement by Yourgene Health and Yourgene accept no responsibility for the content of external websites.

The IONA® test recommended for twin pregnancies screening for Down’s syndrome - 7 April 2021

The IONA® test recommended for twin pregnancies screening for Down’s syndrome – 7 April 2021

In recent years, fertility treatments and the fact women are having babies later has made multiple births more common. In 2016, around 12,000 sets of twins and about 190 sets of triplets or more were born in the UK. That means about 1 in every 65 births in the UK today are twins, triplets or more.1 Extensive studies have been carried out for cell-free DNA (cfDNA) testing in singleton pregnancies with sample numbers into the hundreds of thousands of women. In contrast, data in twin pregnancies are much scarcer, with only 11 studies previously published.2 Recently, Yourgene Health collaborated with 6 centres across the UK to conduct a prospective study, published in the American Journal of Obstetrics and Gynaecology , involving more than 1,000 women with twin pregnancies. The study has shown the Non-Invasive Prenatal Testing (NIPT), namely the IONA® test, to be effective and safe in detecting Down’s syndrome and therefore recommends that NIPT, such as the IONA® test, should be the primary test offered for Down’s syndrome (trisomy 21) screening in twins. 2 As a result, this study is of great significance as there is potential for NIPT to be useful in twin pregnancies, thereby reducing the need for invasive testing which carries the risk of losing one or more fetus. Non-invasive prenatal testing (NIPT) is a screening test used to detect the risk that a fetus will be born with certain genetic conditions. It can be performed as early as 10 weeks in pregnancy and only requires a blood sample from the mother. Other key significant conclusions, we were able to derive from the study include: The IONA® test shows a detection rate of >99.99% for Trisomy 21 The incidence of trisomy 21 is higher in twin than singleton pregnancies, furthermore first trimester combined screening (FTCT) in twin pregnancies has a lower detection rate (DR) (75%) and higher false positive rate (FPR) (7%) than singleton pregnancies3,4.  This study confirms that NIPT using cfDNA is the most accurate screening test for trisomy 21 in twin pregnancies (>99.99%), with screening performance similar to single pregnancies and a very low failure rates of just 0.31%. As expected, it was concluded that the predictive accuracy for trisomies 18 and 13 may be less due to biological factors. The IONA® test gives a valid result even with low fetal fraction  The mean fetal fraction in the study was 12.2% (range, 3%-36%); of which 9 samples with 3% fetal fraction also provided a valid result indicating that the IONA® test is valid for even low fetal fractions. Fetal fraction is the term given to the proportion of cfDNA belonging to the placenta found in the mother’s blood. Factors known to be associated with a lower fetal fraction in singleton pregnancies include in vitro fertilization (IVF) conception and higher maternal weight, two factors that are more common in twin than singleton pregnancies. The study was carried out at six fetal medicine  centres across the UK, with lead author, Professor Asma Khalil who is based at St George’s University Hospitals NHS Foundation Trust. St George’s University Hospitals NHS Foundation Trust is the largest healthcare provider, major teaching hospital and tertiary centre for south west London, Surrey and beyond – serving a population of 3.5 million. The other centres involved were: Leicester Royal Infirmary; the Central Manchester University Hospitals NHS Foundation Trust; Norfolk and Norwich University Hospitals NHS Foundation Trust; Leeds General Infirmary, and John Radcliffe Hospital in Oxford, United Kingdom. This follows on from a long-standing clinical relationship with these six key fetal medicine centres that were involved with the original IONA test clinical publication in 2015. 5 It is testament to the high quality and reliable performance of the IONA test that the majority of these fetal medicine centres are using it for their NIPT offering to their high-risk patients. Victoria Hutchinson, Clinical Lead at Yourgene states: “The partnership between Yourgene Health and the six NHS hospitals that took part in the study worked really well. The research teams were hardworking, passionate and dedicated to the study and has led to a great piece of research. They were a joy to work with and we look forward to the opportunity to collaborate again in the future. “ To read the full publication, please click here. The IONA® test is available as clinical service, with samples analysed at Yourgene Health’s state of the art genomics laboratory in Manchester, UK with results available in 2-5 days. In addition, the IONA® test is a complete CE-IVD product for labs wishing to offer their own in-house non-invasive prenatal testing (NIPT) service. Please email to find out more about either of these options. Participants in the study were recruited before the COVID-19 outbreak started, while the analysis of data and writing of the paper was carried out during the pandemic. References
  2. AJOG. 2021 January 15. Doi: 10.1016/j.ajog.2021.01.005. Noninvasive prenatal screening in twin pregnancies with cell-free DNA using the IONA® test: a prospective multicenter study. Khalil A, Archer R, Hutchinson V, Mousa H. A, Johnstone E. D, Cameron M. J, Cohen K.E, DPhil C.I, Kelly B, Reed K, Hulme R . & Papageorghiou A. T.
  3. Mutton D, Alberman E, Hook EB. Cytogenetic and epidemiological findings in Down syndrome,England and Wales 1989 to 1993. National Down syndrome Cytogenetic Register and theAssociation of Clinical Cytogeneticists. J MedGenet 1996;33:387–94.
  4. Spencer K, Nicolaides KH. Screening for trisomy 21 in twins using first trimester ultrasoundand maternal serum biochemistry in a one-stop clinic: a review of three years experience. BJOG 2003;110:276–80.
  5. Ultrasound Obstet Gynecol. 2015 Oct 23. DOI: 10.1002/uog.15791. Clinical evaluation of the IONA® test: a non-invasive prenatal screening test for Trisomy 21, 18 and 13. Papageorghiou A, Khalil A, Forman M, Hulme R, Mazey R, Mousa HA, Johnstone ED, McKelvey A, Cohen KE, Risley M, Denman W & Kelly B.


The IONA® test for pregnant women

Forms & Brochures

the IONA® test for Pregnant Women Brochure

the IONA® test Consent Form

Please see our Contact forms below:
If you are a current customer or distributor, please complete the 'Current Customer' contact form. 
If you are interested in Yourgene's products/services and would like to enquire, please complete the 'New Enquiry' contact form.

Current Customer Contact Form

New Enquiry Contact Form

For current customers and distributors seeking access to product information including IFU’s, Software Analysis Files, Safety Data Sheets and Supplementary Information please login here

If you require a login please email

If you have a question, need further information, or are interested in offering our NIPT service to your patients, we're here to help.