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

What is a non-invasive prenatal genetic test (NIPT)?

NIPT is a screening test performed during pregnancy to screen unborn babies for certain chromosomal conditions.

These conditions, also known as aneuploidies, are caused by having an incorrect number of chromosomes i.e. an extra or a missing copy of a chromosome.

AlphaBiolabs’ NIPT is over 99.99% accurate and can be performed from as soon as 10 weeks’ gestation.

How does non-invasive prenatal genetic testing (NIPT) work?

AlphaBiolabs NIPT works by analysing cell-free foetal DNA (cffDNA), found in the mother’s bloodstream during pregnancy, to find out if there is an increased chance of the baby being affected by a chromosomal condition (aneuploidy).

These conditions are caused by having an incorrect number of chromosomes i.e. an extra or a missing copy of a chromosome.

The test is over 99.99% accurate and 100% safe for mum and baby. To perform the test, a blood sample must be collected by an AlphaBiolabs clinician, and you must be at least 10 weeks pregnant.

This needs to be confirmed via an ultrasound scan before your blood sample is collected, and the blood collection for your NIPT should be arranged within 1 week of the scan, to ensure the most accurate dating of your pregnancy when the test is carried out.

We provide three options for your NIPT:

• Standard 
  Screens for the three most common chromosomal conditions – Down’s (Trisomy 21), Edwards’ (Trisomy 18) and Patau’s syndrome (Trisomy 13).
• Advanced 
  Screens for the three trisomies covered by our Standard test, plus all other automosal aneuploidies (AAs) and sex chromosome aneuploidies (SCAs), caused by having an abnormal number of sex chromosomes (X and Y chromosomes).
  Examples of SCAs include Turner’s syndrome, Klinefelter’s syndrome, Jacob’s syndrome and Trisomy X.
• Premium 
  Includes everything covered in our Advanced test, plus six specific microdeletions, a group of conditions cause by the absence of a small portion of specific chromosomes.

Whichever test you choose, you’ll receive your password-protected results by email in just 6 business days.

You can also find out the sex of your baby at no extra cost. This is completely optional, and we will not share this information unless you have asked us to do so.

Order a Non-Invasive Prenatal Genetic Test Online

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

Unlike traditional screening methods such as amniocentesis or chorionic villus sampling (CVS), the AlphaBiolabs NIPT is completely non-invasive and 100% safe for mum and baby.

All that’s required is a blood sample from mum, which must be collected by an AlphaBiolabs clinician at one of our nationwide walk-in centres or an address of your choice.

Any pregnant person can take the test from just 10 weeks into pregnancy, and it can be carried out on singleton, twin, surrogate and IVF pregnancies.

The test is not suitable 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).

Who should take the NIPT?

Knowing the level of risk of your baby having a genetic/chromosomal condition can give you peace of mind or provide you with the information you need to make important decisions about your pregnancy.

Expectant mothers can take the test from 10 weeks into pregnancy, and you must have this confirmed via ultrasound scan (NHS or private) before your blood sample is collected for analysis.

Our NIPT is suitable for singleton, twin, 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 soon can I take a non-invasive prenatal genetic test (NIPT)?

You must be at least 10 weeks pregnant to take the AlphaBiolabs NIPT.

This needs to be confirmed via an ultrasound scan before your blood sample is collected. The blood collection for your NIPT should be arranged within 1 week of the scan, to ensure the most accurate dating of your pregnancy when the test is carried out.

Call 0333 600 1300 to order your test

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

Our NIPT is completely non-invasive and 100% safe for mum and baby, with only a blood sample required. This is collected from mum’s arm.

The sample must be collected by an AlphaBiolabs clinician. This can be done at one of our nationwide walk-in centres or at a location convenient to you.

Simply select your preferred option when placing your order.

What does the NIPT screen for?

AlphaBiolabs uses next-generation sequencing to analyse foetal DNA for certain genetic conditions, including the most common chromosomal abnormalities, from 10 weeks into pregnancy.

We provide three options for your NIPT. Whichever test you choose, you’ll receive your password-protected results by email in just 6 business days.

You can also find out the sex of your baby at no extra cost. This is completely optional, and we will not share this information unless you have asked us to do so.

Standard NIPT

Screens for the three most common chromosomal conditions – Down’s (Trisomy 21), Edwards’ (Trisomy 18) and Patau’s syndrome (Trisomy 13).

While Edwards’ and Patau’s syndrome are both extremely rare, they are much more serious than Down’s syndrome. Sadly, many babies affected by Edwards’ or Patau’s syndrome do not survive.

Advanced NIPT

Screens for the three common trisomies covered by our Standard test, plus all other automosal aneuploidies (AAs) and sex chromosome aneuploidies (SCAs).

An autosomal aneuploidy is a genetic condition caused by having an incorrect number of chromosomes, usually an extra chromosome, or a missing copy of a chromosome.

Sex chromosome aneuploidies are a group of genetic conditions that are caused by having an abnormal number of sex chromosomes (X and Y chromosomes).

The additional AAs and SCAs that our Advanced test looks for include severe chromosomal abnormalities such as Turner Syndrome, Klinefelter Syndrome, XYY Syndrome (Jacob’s Syndrome) and Trisomy X, that can often cause pregnancy loss (miscarriage or stillbirth).

Premium NIPT

Includes everything covered in our Advanced test, plus six specific microdeletions, a group of conditions cause by the absence of a small portion of specific chromosomes.

• 1p36 deletion syndrome
• Wolf-Hirschhorn syndrome (4p16.3 deletion)
• Cri-du-Chat syndrome (5p15 deletion)
• Prader-Willi syndrome (15q11.2-q13 deletion)
• Angelman syndrome (15q11.2-q13 deletion)
• DiGeorge syndrome (22q11.2 deletion)

The inclusion of microdeletions makes this test the most comprehensive of the three prenatal genetic tests we offer at AlphaBiolabs.

Read: What is Down’s syndrome?
Read: What is Edwards’ syndrome

Does non-invasive prenatal genetic testing (NIPT) show the baby’s gender?

The AlphaBiolabs NIPT includes free foetal sex determination. This is completely optional, 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 NIPT?

AlphaBiolabs’ NIPT is over 99.99% accurate based on the samples we receive at our laboratory.

What will the test results show?

Your test results will show whether you are at low risk or high risk of your baby having one of more of the chromosomal abnormalities (aneuploidies) or microdeletions for which we have tested, or whether no result was obtained.

The results will also show the sex of your baby if you have asked for this to be included when placing your order.

• If you receive a low-risk result, this means that it is very unlikely that your baby will be affected by the chromosomal conditions for which you were tested.
• If you receive a high-risk result, this means that you are at an increased risk of your baby having a chromosomal condition.
• If you receive no result, this means that there was an insufficient amount of foetal DNA in the mother’s bloodstream, and a result could not be obtained. However, this is extremely rare.

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?

NIPT has shown much higher accuracies compared to traditional screening methods, which 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. It 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, Edward’s and Patau’s syndrome. In the case of a high-risk result, the pregnant woman will be offered the chance to receive non-invasive prenatal genetic testing (NIPT), another screening test, or diagnostic testing (amniocentesis or chorionic villus sampling/CVS).

For amniocentesis and CVS, foetal DNA is obtained through invasive sampling methods.

Amniocentesis requires a long, thin needle to be 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 miscarriage.

In contrast, an AlphaBiolabs NIPT is 100% safe for mum and baby, and completely non-invasive, with only a blood sample from mum required.

With this single blood test, performed from as soon as 10 weeks into pregnancy, the AlphaBiolabs NIPT can detect chromosomal conditions in an unborn baby with an accuracy of over 99.99%.

Results are available in just 6 business days – much quicker than NHS screening.

The test also includes optional, free foetal sex determination.

How AlphaBiolabs NIPT compares to traditional screening tests:

	Traditional screening tests	AlphaBiolabs NIPT
Number of tests	Multiple procedures over the course of the first and/or second trimester	One blood test that can be taken from as early as 10 weeks gestation
What does it screen for?	Combined screening identifies around 85% of babies with Down’s syndrome and 80% of babies with Edwards’ or Patau’s syndrome	Over 99.99% accurate for detecting chromosomal abnormalities
Screening in twin pregnancies	Reduced performance of screening in twin pregnancies	Equivalent performance of screening in both twin and singleton pregnancies
Speed of results	Results are provided following several tests, which can take some time	Results provided within 6 business days
Sample collection	Can involve invasive methods, carrying an increased chance of miscarriage	Blood sample taken from mother’s arm – non-invasive and 100% safe for mum and baby
Can you find out the baby’s sex?	No early gender identification	Optional foetal sex determination, at no extra cost

How much does NIPT cost?

We provide three options for your NIPT. All tests include optional, FREE foetal sex determination.

• Standard AlphaBiolabs NIPT
  £279 + sample collection fee

  Ideal if you want to screen for the three most common chromosomal abnormalities – Down’s syndrome (Trisomy 21), Edwards’ syndrome (Trisomy 18), and Patau’s syndrome (Trisomy 13).

• Advanced AlphaBiolabs NIPT
  £309 + sample collection fee

  Includes testing for the three trisomies covered by our Standard test, plus all other autosomal aneuploidies (AAs) and sex chromosome aneuploidies (SCAs).

• Premium AlphaBiolabs NIPT
  £689 + sample collection fee

  Includes everything covered in our Advanced test, PLUS six specific microdeletions, a group of conditions cause by the absence of a small portion of specific chromosomes.  The inclusion of microdeletions makes this test the most comprehensive of the three prenatal genetic tests we offer at AlphaBiolabs.

Whichever test you choose, the mother’s blood sample must be collected by an AlphaBiolabs clinician. This can be done at one of our nationwide walk-in centres (+£49), or at an address of your choice (+£85).

Can I get a free NIPT on the NHS?

NIPT is increasingly being 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, Edwards’ syndrome or Patau’s syndrome.

The AlphaBiolabs NIPT can be taken by any expectant mother from just 10 weeks pregnancy, giving you peace of mind, or providing you with the information you need to make important decisions about your pregnancy.