What is a NIPT test, and how can it benefit expectant moms?

Last updated: 26 February 2021

Like every future mommy, you're on a mission: give your baby the best start of life. With the help of modern technology, you can do it simply and safely – with a non-invasive prenatal test. Discover NIPT and how can it help you spent a calm and carefree pregnancy.

Happiness, fear, joy, anxiety, confusion are feelings that are probably very familiar to every woman who has just seen that inconspicuous "+" on a pregnancy test. As you embark on an exceptional and unique journey, there is one question always on your mind …

"Is my child healthy?"

When you conceive, you will probably have to wait a while until your first doctor's appointment. If you don't have any problems, the gynaecologist usually schedules it between weeks 8 and 12. Why? Because before that time, they can't confirm your pregnancy with an ultrasound.

Especially if you're a first-time mommy, the wait for the first pregnancy check-up can drag on for what feels like an eternity. Every morning can bring a new question and a new worry, mostly centred around the health of the being you're carrying.

First, take a deep breath and believe that your child is healthy. But you don't need to rely on wishful thinking alone – there is a safe and easy way to make sure your baby is not carrying genetic abnormalities!

NIPT by GenePlanet: currently the best screening test on the market

You might have already heard about NIPT (non-invasive prenatal test) from friends, gynaecologist, or pregnancy blogs. It is a screening test for detecting the baby's potential genetic abnormalities while the little bundle is still happily growing inside you.

NIPT by GenePlanet is the most advanced, comprehensive, and accurate first-trimester screening test, detecting genetic abnormalities caused by additional or missing genetic information in the child's DNA.

It can detect the most common trisomies – Down, Edwards, and Patau syndrome as well as other aneuploidies (T9, T16, T22), sex chromosome aneuploidies, and 60 deletion and duplication syndromes. All of them can affect the development of your child.

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How does it work?

Non-invasive prenatal testing (NIPT) is based on the analysis of cell-free DNA (cfDNA) in maternal blood.

DNA is mostly located in your cells' nucleus, but some of it makes its way into your bloodstream. That is why we call it cell-free DNA. When you are pregnant, on average, 10–20% of your cfDNA belongs to the developing baby.

Because this fetal cfDNA represents the little one's entire genotype, we can use a sample of your blood to analyse his/her DNA. We identify potential chromosomal abnormalities by counting particular chromosomes. If an abnormality is present, we detect small excesses or deficits in counts of the affected chromosome. For example, Down syndrome (trisomy of chromosome 21) is identified by an increased proportion of chromosome 21-specific DNA in the sample.

Who is NIPT by GenePlanet test for?

In short – for any pregnant woman wanting one worry less and spending her pregnancy focusing only on the happy anticipation of her baby.

While the risk of some genetic abnormalities increases with age, they can occur in any pregnancy. For that reason, NIPT by GenePlanet test is recommended for any pregnant woman regardless of age or the predetermined genetic risk.

It can be especially valuable for women:

- 35 years old or older,

- with a personal or family history of chromosomal conditions,

- whose other first-trimester screening tests indicate an increased risk of aneuploidy.

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How accurate is NIPT by GenePlanet?

NIPT by GenePlanet has the highest detection rate for most common trisomies (> 99%). Independent studies, including the most extensive study on the use of NIPT in clinical practice on almost 147,000 pregnant women, showed that NIPT by GenePlanet detects these deficiencies with a 99% detection rate.

NIPT is a screening and not a diagnostic test, which means that there is – however small – chance of a false-positive or false-negative result.

Compared to traditional screening tests, NIPT by GenePlanet offers not only higher detection rate, but also smaller percentage of false-positive results:

- only 0.05% for Down syndrome (T21),

- or 0.14% for the most common trisomies overall.

In comparison: nuchal translucency screening results in approximately 5% false positives.

The only way to confirm with absolute certainty if the baby has or doesn't have chromosomal irregularities, is with diagnostic tests such as amniocentesis or chorionic villus sampling. But based on the exceptional accuracy of NIPT by GenePlanet test, fewer women need to be exposed to such procedures, which are invasive and carry a 1–2% risk of abortion.

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How do I get NIPT by GenePlanet test?

By visiting one of the gynaecologists offering the test. You can find the list on our website. When the chosen doctor takes a small blood sample from your arm, it travels to our laboratory, where we analyse it.

The results are usually ready in about a week. So 6–10 days after giving a blood sample, expect a call from the gynaecologist who performed the test, letting you know about your results.

Then comes the happy anticipation – building a loving nest for your newest family member.

There are a million worries during pregnancy. With NIPT by GenePlanet test, you can have one worry less.

 

 

Family planning About genetics

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