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Non-Invasive Prenatal Genetic Predisposition Test (NIPT/DPNI)

The non-invasive prenatal test, known as NIPT (Non-Invasive Prenatal Testing) or DPNI in French (Dépistage Prénatal Non Invasif), is a DNA test performed during pregnancy. It detects certain chromosomal abnormalities in the fetus, particularly trisomy 21, trisomy 18, and trisomy 13.

This test is based on a simple blood sample from the pregnant woman, with no risk to the baby. Thanks to this, many parents can now benefit from reliable and early screening, without undergoing invasive procedures such as amniocentesis.

What is a genetic predisposition screening?

Sample types are exclusively:

Blood sample for the mother

You cannot use other samples for this test.

What type of sample is used for the prenatal test?

From the 10th week of pregnancy, fragments of fetal DNA naturally circulate in the mother’s blood. A blood draw allows the analysis of this free-floating DNA (mainly from the placenta) to look for excess genetic material on certain chromosomes.

The NIPT is completely non-invasive: no sampling from the fetus is required. A simple blood sample is sent to a specialized laboratory for high-precision DNA analysis.

The lab quantifies the DNA fragments from each chromosome. If one chromosome is overrepresented—for example, three copies of chromosome 21 instead of two—this may indicate a trisomy. Results are usually available within one to two weeks.

How does the NIPT test work?

What abnormalities can the NIPT detect?

NIPT primarily detects abnormalities called aneuploidies, meaning an abnormal number of chromosomes:

Trisomy 21 (Down syndrome): the most common, affecting about 1 in 400 pregnancies.
Trisomy 18 (Edwards syndrome): often associated with severe malformations.
Trisomy 13 (Patau syndrome): rarer but serious.

Most tests also screen for sex chromosome abnormalities (X and Y), such as Turner syndrome (45,X) or Klinefelter syndrome (XXY). Optionally, the test can also reveal the baby’s sex if the parents wish to know.

Some extended NIPT panels can detect chromosomal microdeletions (e.g., DiGeorge syndrome) or larger abnormalities. However, these are less reliable and more prone to false positives, so they are reserved for specific cases and not routinely included.

You must be at minimum 10 weeks of amenorrhea (8 weeks of pregnancy) for the blood test.

The longer you wait, the more likely you are to have enough of the baby's DNA in your blood to test.

Check with a healthcare professional about your weeks of pregnancy.

It happens in some mothers that the DNA of the fetus is not in sufficient quantity, even if you take the blood sample from the indicated time.

This cannot be predicted and remember that genetics is a science that depends on each person's genes.

If this happens to you, the laboratory will ask you to provide a new blood sample. Additional charges may apply.

When can we take the test?

You must arrange an appointment with a healthcare professional to have the blood drawn. It can be your doctor, a laboratory or a private nurse.

This appointment is your responsibility and the laboratory will not provide you with any prescription for this procedure.

Don't worry, it is always possible to find a professional who will understand your situation in order to help you with the blood test.

Before ordering, plan the blood test!

The analysis of the prenatal test can only be carried out within 10 days from the blood test. You must therefore ensure that the blood samples are sent on the same day as the blood test.

The receipt of the kit and the sending of your samples are often included in the purchase of the test.

They are usually carried out by a courier and take on average a few days to arrive at their destination.

- The deadline for receiving a kit is a few days, by international courier.

You have a tracking number and the reception must be done by a person.

- In order to return your samples, you must contact the laboratory a few days before the blood test to arrange collection.

It usually takes 3-4 days to get to the lab and you will get a new tracking number.

How to send samples quickly?

NIPT is very reliable, especially for trisomy 21, with sensitivity over 99%. For trisomy 18, the sensitivity is about 97%, and for trisomy 13, it ranges from 87% to 95%.

However, it's important to remember that NIPT is a screening test, not a diagnostic test. This means:

A negative result indicates a very low risk but does not guarantee 100% absence of abnormalities.
A positive result indicates a high risk but must be confirmed by a diagnostic test, such as amniocentesis or chorionic villus sampling (CVS).
In rare cases, certain factors may distort results (e.g., placental mosaicism, vanishing twin, or recent blood transfusion).

How reliable is the NIPT?

In most European countries, NIPT is now accessible to all pregnant women, but availability and conditions vary:

In Belgium, it has been reimbursed for all since 2017.
In France, it is 100% reimbursed only if a high or intermediate risk is detected in first-trimester screening.
In the UK, Germany, and the Netherlands, it is offered either in cases of risk or to all women with varying costs.

Generally, a prescription from a doctor or midwife and informed consent are required. The test is not intended for non-medical use (e.g., gender selection), though the baby’s sex can be disclosed upon request.

Is NIPT available for all pregnant women?

In the same category as NIPT, there is also the non-invasive prenatal paternity test. This test determines, before birth, whether a man is the biological father of the baby. It also involves a blood sample from the pregnant woman and a saliva or blood sample from the alleged father.

The analysis compares fetal DNA in the mother’s blood to the presumed father’s DNA to confirm or exclude a biological link. It can be performed as early as the 8th or 9th week of pregnancy and poses no risk to the mother or fetus. The result is highly accurate, typically over 99.9% for inclusion.

This test should not be confused with genetic screening tests like NIPT: it does not detect chromosomal abnormalities, only paternity confirmation.

Prenatal Paternity Test: Another Type of Non-Invasive DNA Test

Before the development of NIPT, screening relied on ultrasounds and standard blood tests, with a relatively high false-positive rate (up to 5%). If abnormalities were suspected, amniocentesis was proposed, which, although accurate, carries a miscarriage risk (estimated between 0.3% and 1%).

NIPT significantly reduces the need for invasive tests by reassuring most women with a simple blood test. It is estimated that amniocentesis procedures have decreased fourfold thanks to NIPT.

In summary, NIPT offers:

High reliability
Zero risk to the baby
A simple and fast procedure
A significant reduction in unnecessary invasive tests

Why choose a non-invasive prenatal test?

1. Does the NIPT replace ultrasounds during pregnancy?

No. NIPT is a complementary test. It does not replace ultrasounds that assess the baby’s morphology and detect physical abnormalities.

2. Can I take the NIPT in a twin pregnancy?

Yes, but the reliability is slightly reduced. Not all labs offer analysis for multiple pregnancies, so it’s best to confirm with your provider.

3. Can the test detect diseases other than trisomies?

Some labs offer extended panels for microdeletions or other genetic anomalies. These analyses are complex and should be interpreted cautiously.

4. Can the test give a false result?

Yes, though rare. False positives or negatives can occur, especially in cases of placental mosaicism, vanishing twin, or maternal anomalies. A positive NIPT result should always be confirmed by an invasive test.