NIPT FAQs
Non-Invasive Prenatal Tests (NIPT) estimate the risk of a fetus having Down’s syndrome or certain other genetic conditions. NIPT is performed on a small maternal blood sample from as early as 10 weeks gestation. Results can be expected from your healthcare provider within 7-8 working days from sample receipt in the Yourgene Genomic Services laboratory in Manchester, UK.
Non-invasive screening enables pregnant women and their families to receive fast, safe and reliable results which reduces the need for invasive tests and the associated risks, reducing stress and anxiety for expectant parents.
Providing the right screening options for you is our priority, as such we provide a menu-based approach where you can select to be screened for:
- Trisomy 21 (Down’s Syndrome)
- Trisomy 18 (Edwards’ Syndrome)
- Trisomy 13 (Patau’s Syndrome)
- Fetal Sex Determination
- Sex Chromosome Aneuploidies (SCA)
- Autosomal Aneuploidies (AA)
- Clinically relevant microdeletion syndromes
Safe: Non-invasive with no risk of miscarriage.
Fast: Provides results within 2-5 working days from sample receipt.
Accurate: Greater than 99% detection rate of trisomy conditions and fetal sex determination.
Simple: Uses a simple maternal blood sample.
Local: Your sample will be analysed at the Yourgene Genomic Services laboratory in Manchester, UK.
Quality: The IONA® test is a regulated CE-marked test.
During pregnancy the placenta leaks cell-free DNA which circulates in the maternal bloodstream. As a result, a maternal blood sample contains a mixture of placental and maternal circulating cell-free DNA. The IONA® test directly measures the amount of cell-free DNA and can detect small changes in the DNA ratio between the maternal and placental cell-free DNA when a fetal trisomy 21, 18 or 13 is present.
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.
You can still get accurate trisomy screening without the FTCT result. The IONA® test can be performed from 10 weeks gestation following an ultrasound. This is an essential requirement for the IONA® test.
The IONA® test has a higher detection rate than the current FTCT offered to pregnant women. This means that fewer pregnant women will undergo unnecessary invasive follow-up procedures such as amniocentesis or CVS (Chorionic villus sampling) which can be stressful, painful and may carry a small risk of miscarriage.
✓ From 10 weeks gestation
✓ Singleton or twin pregnancies
NIPT is unsuitable if the mother has:
X Received an organ transplant
X Cancer
X Carries a chromosomal imbalance
X Had a transfusion of heterologous cells in the last year
X Complete or partial monosomy X (Turner Syndrome)
The IONA® test estimates the risk of a fetus having Down’s syndrome (Trisomy 21), Edwards’ syndrome (Trisomy 18) and Patau’s syndrome (Trisomy 13). 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 syndrome but are very serious and many affected babies sadly do not survive.
Fetal sex determination is available as an option, and has an accuracy of greater than 99%. It is recommended fetal sex is confirmed by ultrasound. Very rarely, the fetal sex determination may fail, this does not impact the trisomy result in any way.
the IONA® test
Our basic menu is the IONA® test, covering the core trisomies (T21, T18, T13) and has the option to include fetal sex determination. For more detail, please see the previous FAQ ‘What does IONA® screen for?’.
IONA® Care
Our extended menu is IONA® Care, which has the same coverage as the IONA test, with the addition of Sex Chromosome Aneuploidies (SCAs) and Autosomal Aneuploidies (AAs).
Sex chromosome aneuploidies (SCA) occur when there are changes in the expected number of the chromosomes associated with sex determination, the X and Y chromosomes: Turner Syndrome (45,X ) , Trisomy X (47,XXX), Klinefelter’s Syndrome (47,XXY) and Jacob’s Syndrome (47,XYY).
Autosomal Aneuploidies are all additional trisomies (the presence of an extra chromosome) or monosomies (having a single chromosome instead of a pair).
Pregnant women can choose to be screened for SCAs, AAs or both. Fetal sex determination is also option. Please speak to your healthcare provider.
IONA® Care+
Our most comprehensive menu is IONA® Care+, which has the same coverage as IONA Care, with the addition of clinically relevant microdeletions. One of the most common microdeletion syndromes is DiGeorge Syndrome (22q11.2 deletion). IONA® Care+ screens for the 22q11.2 deletion alongside other clinically relevant microdeletions, associated with different conditions such as Prader-Willi, Angelman, 1p36 deletion, Cri-du-Chat and Wolf-Hirschhorn Syndrome.
Microdeletion syndromes are caused by chromosomal deletions that include several genes, but that are too small to be detected by conventional methods. Syndromes associated with microdeletions can present with a range of clinical features.
The vast majority of microdeletions occur de novo i.e. they are not inherited from the parents. In some cases, however, they can be inherited from an apparently unaffected parent. Unlike common trisomies, microdeletions are not thought to be associated with advanced maternal age.
Low risk: It is very unlikely your pregnancy is affected by trisomy 21, 18 or 13.
High risk: Your pregnancy is at increased risk for trisomy 21, 18 or 13. High risk results should be discussed with your healthcare provider.
No result: In rare cases there is insufficient fetal DNA in the sample to obtain a result. You may be asked by your healthcare provider for an additional blood sample.
The same applies for IONA® Care and IONA® Care+.
Our NIPT screening tests are very accurate, they are all powered by IONA® Nx NIPT Workflow by Yourgene Health. For the most up-to-date performance data please visit the Clinical Performance page (Navigate to the Post Market Surveillance Section).
Please speak to your healthcare provider for further information. As with all NIPT, any high-risk results should be discussed with your healthcare provider and a follow up diagnostic test is recommended.
The Detection Rate (sensitivity) of IONA® for Down’s syndrome is >99%, which means that nearly every case of Down’s syndrome will be detected with very few false negative results (affected pregnancies falsely screened as low risk).
False Positive Rate (FPR) is the proportion of pregnancies that do not have the syndrome but have screened as high risk. A false positive result means that although NIPT indicates a high risk of trisomy 21, the fetus does not have this condition.
For any high risk IONA® result, your healthcare professional will be able to guide you further.
Multiple clinics across the UK offer our NIPT tests to pregnant women. Speak to your local midwife or healthcare professional and ask them about the IONA® test/IONA® Care/IONA® Care+.
Please note, we do not work directly with patients/pregnant women as we are a service provider. You must contact a registered clinic to get the IONA® test.