NIPT test – What you need to know about Non‑Invasive Prenatal Testing

Non-Invasive Prenatal Testing (NIPT) is a genetic test used to screen for genetic abnormalities such as Down’s Syndrome, Edward’s Syndrome, and Patau’s Syndrome during pregnancy. NIPT is carried out using a blood sample from the mother, meaning that there is no risk to the mother or baby.

The AlphaBiolabs IONA® NIPT test can be taken by expectant mothers from just 10 weeks of pregnancy.

How does the NIPT test work?

AlphaBiolabs IONA® NIPT utilises a blood test taken from an expectant mother to find out important health information about the pregnancy from as early as 10 weeks. NIPT is a simple blood test with no increased risk to mother or baby.

Cell-free foetal DNA (cffDNA) circulates within the mother’s blood and can be analysed by revolutionary DNA technology for abnormalities in the chromosomes belonging to the foetus.

NIPT can be used to find out if a pregnant woman is carrying a foetus with an increased chance of being affected by a chromosomal condition, known as an aneuploidy. An aneuploidy is a condition caused by having an incorrect number of chromosomes i.e. an extra or a missing copy of a chromosome.

The three most common chromosomal conditions covered by the Standard AlphaBiolabs IONA® test are:

1. Down’s Syndrome (Trisomy 21)
2. Edwards’ Syndrome (Trisomy 18)
3. Patau’s Syndrome (Trisomy 13)

Additionally, the Advanced AlphaBiolabs NIPT test can also detect changes in all other chromosomes, including Autosomal Aneuploidies (AAs) and Sex Chromosome Aneuploidies (SCAs) such as Turner’s Syndrome, Klinefelter’s Syndrome, Jacob’s Syndrome and Trisomy X.

The AlphaBiolabs IONA® NIPT test requires a sample of the mother’s blood, meaning that there is no risk to either mother or baby. This is important to consider as traditional test methods require a sample collected by highly invasive methods such as amniocentesis and chorionic villus sampling (CVS), which can harm the mother and baby and increase the risk of pregnancy loss.

The AlphaBiolabs IONA® NIPT tests also offer optional foetal sex determination, which is not available when using traditional screening methods.

The AlphaBiolabs IONA® NIPT test can be carried out as soon as 10 gestational weeks, confirmed by an ultrasound appointment (NHS or private), with results available in 7 working days.

The AlphaBiolabs NIPT test conforms to the highest standards of quality. This NIPT test is CE-IVD marked and performed in a UKAS-accredited laboratory, meaning that you can have total confidence in the findings. This test is highly robust and has a very high success rate, meaning that 99.8% of customers receive results from the first blood sample.

Can I get a genetic test while pregnant and is it safe?

The AlphaBiolabs IONA® NIPT test is a screening test for genetic conditions known as aneuploidies. This is when someone had an incorrect number of chromosomes, such as Down’s Syndrome. As well as Down’s Syndrome, the Standard AlphaBiolabs IONA® NIPT test also screens for Edward’s Syndrome, and Patau’s syndrome, which are much more serious than Down’s syndrome; babies born with these conditions rarely survive past infancy.

Any pregnant person can take this test from just 10 weeks gestation, and can be caried out on singleton, twin, and IVF pregnancies.

The AlphaBiolabs IONA® NIPT test is 100% safe for both mother and baby, and unlike traditional prenatal screening methods (such as amniocentesis and chorionic villus sampling (CVS)), NIPT avoids the increased risk of miscarriage.

What is a NIPT test?

An NIPT test uses a blood sample obtained from the mother’s arm to analyse foetal DNA that circulates within the mother’s blood (cell-free foetal DNA – cffDNA). NIPT is a screening test that informs pregnant women about their risk of carrying a baby with a higher chance of having Down’s syndrome, Edwards’ syndrome, or Patau’s syndrome.

Because this is a screening test, a positive result would need to be confirmed by an invasive diagnostic test – such as amniocentesis or CVS. A positive result doesn’t mean that your baby definitely has one of these chromosomal conditions. However, the AlphaBiolabs IONA® NIPT test is over 99% accurate, with an incidence of false positives and false negative results of less than 0.1% (observed performances are based on post-market surveillance of the IONA® Nx workflow in over 52,258 singleton, monochorionic & dichorionic twin pregnancies, from a population of women who are predominantly at a higher risk of having a foetus with Down’s syndrome).

Who should get the NIPT test?

The AlphaBiolabs IONA® NIPT test is suitable for expectant women who are at least 10 weeks pregnant. It is suitable for both singleton and twin pregnancies, as well as IVF and surrogate pregnancies. It is unsuitable for women who have cancer, have received an organ transplant or a heterologous cell transplant in the last 12 months, or have complete or partial monosomy X (Turner’s syndrome).

How early can I do a NIPT test?

The AlphaBiolabs IONA® NIPT screening test can be taken by any expectant women who are at least 10 weeks pregnant.

What samples are required for NIPT, and how are they collected?

The NIPT test is a simple blood test obtained from the mother’s arm and poses no risk to mother or baby. The AlphaBiolabs IONA® NIPT test includes free sample collection by an AlphaBiolabs sample collector at a location of your choice, or at one of our walk-in centres.

What does a NIPT screen for?

AlphaBiolabs IONA® NIPT utilises revolutionary DNA technology to screen the foetus for chromosomal conditions such as Down’s Syndrome, Edward’s Syndrome and Patau’s Syndrome.

The three most common chromosomal conditions covered by the Standard AlphaBiolabs IONA® test are:

Down’s Syndrome (Trisomy 21)

Trisomy 21 is also known as Down’s syndrome. It is one of the most common chromosomal conditions at birth and poses an increased risk for miscarriage or stillbirth. Individuals with Down’s syndrome have mild to moderate intellectual disability, characteristic facial features, and may have treatable medical conditions, such as congenital heart defects, low muscle tone, and low thyroid levels.

Edwards’ Syndrome (Trisomy 18) and Patau’s Syndrome (Trisomy 13)

Trisomy 18 is also known as Edward’s Syndrome, and Trisomy 13 is also known as Patau’s Syndrome. Trisomies 18 and 13 are significantly less common than Down’s syndrome but are much more severe. There is an increased risk for miscarriage or stillbirth. Infants with trisomy 18 or trisomy 13 have severe physical and intellectual disabilities, and survival beyond one year of age is rare.

Additionally, the Advanced AlphaBiolabs NIPT test can also detect all other aneuploidies, including Autosomal Aneuploidies (AAs) and Sex Chromosome Aneuploidies (SCAs) such as Turner’s Syndrome, Klinefelter’s Syndrome, Jacob’s Syndrome and Trisomy X.

Does a NIPT show the baby’s gender?

The AlphaBiolabs IONA® NIPT test offers free optional gender determination with an accuracy of >99%. This is completely optional, comes at no extra cost, and we will not share this information unless you have asked us to do so.

A ‘sex determination failure’ may be reported in your results if there is insufficient data to support the sex determination analysis. However, the test results for chromosomal abnormalities will still be just as accurate, even if your baby’s gender could not be determined.

Please note, sex determination is not available for dichorionic twin pregnancies (where there are two placentas present).

How accurate/reliable is a NIPT?

The AlphaBiolabs IONA® NIPT test is >99% accurate, with an incidence of false positives and false negative results of less than 0.1% (observed performances are based on post-market surveillance of the IONA® Nx workflow in over 52,258 singleton, monochorionic & dichorionic twin pregnancies, from a population of women who are predominantly at a higher risk of having a foetus with Down’s syndrome).

What will the test results show?

The results of this screening test will be presented to you in terms of risk, with a result of ‘Low Risk’ or ‘High Risk’ for each condition screened for. In very rare instances, the laboratory will not be able to obtain a result (0.2% cases) and a new blood sample collection can be arranged for a repeat analysis.

What does a high risk/positive result mean?

If you receive a ‘High Risk’ result, it does not mean that your baby definitely has a chromosomal condition, but it is likely. Therefore, further invasive testing would be recommended. This is because NIPT is a screening test and is not diagnostic. According to current guidelines, high-risk pregnancies should be confirmed by a diagnostic follow-up procedure, such as amniocentesis or chorionic villus sampling (CVS). It would be recommended to consult your healthcare provider to seek further guidance if any results are found to be ‘high risk’.

What does a low risk/negative result mean?

A ‘Low Risk’ result means that is very unlikely your pregnancy is affected by the chromosomal conditions tested for. False negatives are very rare (>0.1%).

Are there other types of prenatal genetic tests?

The IONA® NIPT has shown much higher accuracies compared to traditional screening methods, such as amniocentesis, and chorionic villus sampling. Traditional prenatal screening methods also include many different tests over the course of the first and second trimester.

Traditional screening offered by the NHS during pregnancy is known as the ‘combined test’ and is typically carried out at 11-13 weeks. Testing consists of an ultrasound scan to measure the nuchal translucency (NT) and a blood test to look at protein markers. Together, these factors are used to predict the probability of the foetus having Down’s syndrome, Edward’s syndrome and Patau’s syndrome. Those who receive a high-risk result will be offered an invasive test (amniocentesis or CVS) that carries an increased risk of miscarriage.

Foetal DNA is traditionally obtained through invasive sampling methods e.g. amniocentesis, or chorionic villus sampling (CVS). Amniocentesis involves a long, thin needle that is inserted through the abdomen (stomach) to obtain a sample for testing. For CVS, a needle is inserted into the womb to obtain a sample of cells. Both procedures are invasive and increase the risk of pregnancy loss. The increased risk of miscarriage is often a dilemma, and many pregnant women therefore opt for NIPT as their initial screening test. However, the AlphaBiolabs NIPT test uses foetal DNA obtained from the mother’s bloodstream, posing no risk to mother or baby.

Traditional screening consists of multiple tests across the first and second trimesters that can detect around 85% of babies with Down’s syndrome, and 80% of babies with Edwards’ or Patau’s syndrome.

On the other hand, the AlphaBiolabs IONA® NIPT requires a single blood test, which can be provided by any expectant mother in the first trimester, from 10+ weeks gestation (not just those who received a high-risk result from the combined test).

The AlphaBiolabs NIPT test is a laboratory test which detects 97.2%-100% of trisomies 13, 18 and 21 in singleton and twin pregnancies. The AlphaBiolabs IONA® NIPT test can also provide early gender determination. With results available in in 7 working days, you can get results much quicker when compared to the traditional testing pathway.

Traditional Screening Tests	AlphaBiolabs IONA® NIPT
Multiple procedures over the course of the first and/or second trimester	One laboratory test at any time over 10 weeks gestation
Combined screening identifies around 85% of babies with Down’s syndrome and 80% of babies with Edwards’ or Patau’s syndrome	The AlphaBiolabs IONA® NIPT test detects >99.9% of babies with Down’s syndrome, Edward’s syndrome and Patau’s syndrome
Reduced performance of screening in twin pregnancies	Equivalent performance of screening in both twin and singleton pregnancies
Results are provided following several tests, which can take some time	Results provided within 7 working days
Can involve invasive methods that can harm the mother and baby and carry an increased chance of miscarriage.	Blood test taken from mother’s arm, posing no risk to mother or baby
No early gender identification	Gender identification available from 10 weeks

How much does a NIPT test cost?

The Standard AlphaBiolabs IONA® NIPT test costs £495 and screens for three common trisomies: Down’s Syndrome (Trisomy 21), Edward’s Syndrome (Trisomy 18) and Patau’s Syndrome (Trisomy 13).

The Advanced AlphaBiolabs IONA® NIPT costs £595 and screens for the three common trisomies included in our Standard test, plus all other autosomal aneuploidies (AAs) and sex chromosome aneuploidies (SCAs).

AlphaBiolabs offers various interest free payment options for both the Standard and Advanced tests – call us on 0333 600 1300 for more information.

Can I get a NIPT test on the NHS for free?

NIPT is being increasingly offered by the NHS. However, it is only available for pregnant women who are deemed at high-risk of carrying a baby affected by Down’s Syndrome, Edward’s Syndrome or Patau’s Syndrome.

On the other hand, the AlphaBiolabs IONA® NIPT can be taken by any expectant mother from just 10 weeks pregnancy.