NIPT Test: Non-Invasive Prenatal Test ‒ What is It?

NIPT testing is a non-invasive prenatal test that can detect some birth differences. Here's everything you need to know about the NIPT test.

From the moment you find out you’re pregnant, you might become immediately curious about who this tiny being is that’s growing inside you.

Now, with advancements in genetic studies, we can gain more insight into them than ever before.

NIPT testing is one method that can help us do this.

So what is NIPT testing, exactly? And is it a good idea to have this test done?

While there’s no single answer that will suit everyone, being armed with the info can help you make the right choice for you.

So let’s explore everything there is to know about the NIPT test, together.

In this article: 📝

What is NIPT testing in pregnancy?

The NIPT blood test stands for non-invasive prenatal testing.

(So actually, we tend to pop an extra “testing” onto the end when we say ‘NIPT test’. But you get the picture.)

NIPT is genetic testing that looks for chromosomal conditions that can give you insight into any health issues your baby could possibly have.

In a (pea) nutshell, NIPT screening is:

• Often done early in your pregnancy.
• A blood test. That means it poses no real risk for you or your baby.
• Elective. You can choose whether or not you want to have it.
  It’s important to know that NIPT is a screening rather than a diagnostic test.

This means it will not diagnose a specific condition, but it can tell you how high or low your baby’s risk is of developing it.

This can give you information on whether to conduct further diagnostic tests like chorionic villus sampling (CVS) or amniocentesis.

These diagnostic tests analyze your baby’s DNA rather than yours.

That means a sample needs to be taken from the amniotic fluid or placenta.

Because these tests use your baby’s actual genetic material, they can give more precise info.

That being said, they are considered “invasive procedures,” so risks do exist.

The RCOG warns that there is an additional risk of miscarriage following amniocentesis or CVS procedures—specifically 0.5-1.0% for CVS procedures and 0.25-0.50% for amniocentesis procedures.

How does NIPT work?

During pregnancy, your body is rather amazing and shuttles nutrients back and forth to your baby through the placenta.

However, what most people don't know is that the baby releases some of their DNA into your bloodstream.

As a result, your blood mixes with your baby's DNA and can be tested through a simple blood test.

Once blood is taken, scientists are looking out for more DNA than expected—specifically chromosomes 21, 18, or 13, as this could mean your baby has an underlying condition.

Does NIPT testing hurt?

Not really, no ‒ an NIPT test hurts only as much as a pinprick.

This is because it’s a blood test, so the medical team simply take a vial of your blood for the test.

Is NIPT test necessary?

No, an NIPT test is completely optional ‒ you can choose whether you want to undergo the screening or not.

What can be detected by NIPT test?

The NIPT test mainly looks at baby’s chromosomes ‒ their genetic makeup.

Chromosomes are strands of DNA that live inside most of the cells in your body.

Inside your chromosomes are your genes — key instructions that are passed down from one generation to another.

These instructions have a hand in everything from your eye color to your blood type.

And yes, they can tell you about genetic conditions that could be passed down to your baby.

Everyone has a unique chromosomal makeup.

In most cases, babies have a total of 46 chromosomes — 23 inherited from one side and 23 from the other.

Sometimes, missing or extra chromosomes can lead to major health challenges.

The NIPT uses your blood to screen your baby to see if they have any risks of developing serious conditions.

Will NIPT results show gender?

No — but it can show sex.

Sex is a label you’re assigned based on what genitals and chromosomes you have.

Gender is a more complex idea that has to do with social and societal expectations, behaviors, and thoughts.

Gender identity is how you feel on the inside.

So, the bottom line? Because it is a test of your baby's DNA material, NIPT can show sex ‒ whether you’re expecting a baby boy or a girl.

And of course, if you want to do the NIPT for screening purposes but are not keen to know their sex, let your doctor know.

You only have to get the info you want to get.

How to read NIPT results for gender?

You can ask your doctor who’s carrying out the NIPT test to share with you what sex your baby is.

But just how accurate is NIPT for gender?

Well, the NIPT gender accuracy (or rather, sex accuracy) is about 99.6% correct.

So it’s a pretty good indicator of what sex your baby will be.

But if you want to have a bit of fun with guessing baby’s sex before you get the results, you could always try a gender test at home or some old wives’ tales to guess baby’s sex.

Can NIPT tell paternity?

Yes, as NIPT is a genetic test, it can be used as a paternity test.

It’s about 99.9% accurate as a paternity test – unless the biological father is a close relative of the alleged father.

Can NIPT detect twins?

Not always ‒ the NIPT accuracy for detecting chromosomal abnormalities may actually be less accurate in cases of twin pregnancy.

A twin pregnancy (or multiple pregnancy) may also impact the accuracy of finding out your baby’s sex via NIPT test, too.

It’s also not an accurate way of telling whether you’re expecting twins ‒ although that can skew the results.

What does the NIPT test for?

The most common things these tests are screening for include:

• Down syndrome. This genetic anomaly is called trisomy 21 and is the most common chromosomal irregularity in humans. It’s basically a genetic condition caused by having an extra chromosome (Chromosome 21). It affects about 6,000 babies born in the United States every year.
• Edwards’ syndrome. Also called trisomy 18, this chromosomal condition comes from having an extra Chromosome 18. It results in babies born being very small with heart and lung conditions and intellectual challenges.
• Patau’s syndrome. An extra chromosome 13 is responsible for this one, and that’s why it’s called trisomy 13. It’s a very serious condition that can cause pregnancy loss or the death of a baby when they are very young. Only five to ten percent of babies with this condition live past their first year.
  Of course, deciding whether you want to find this information is a big deal.

Know that there’s no “right” answer here.

You do what feels right for you.

What if the NIPT is positive?

If your NIPT test results come back positive, that doesn’t necessarily mean that baby has Down syndrome, Edward’s syndrome, or Patau’s syndrome.

It can mean that they’re more likely to be born with one of these conditions, but there is a chance that it could be a false positive.

After all, NIPT is a screening, not a definitive genetic test.

But if your NIPT test results are positive, then your doctor will discuss your options and what they could mean, along with the next steps.

How many NIPT tests are positive?

About 1-5% of NIPT test results are positive, and from these positive results, anywhere from 84 to 91% of these babies are born with either Down, Edwards’, or Patau’s syndrome.

When is the best time to do NIPT test?

So when is NIPT done?

It can be done very early in your pregnancy — sometimes as soon as 10 weeks.

Your healthcare provider may bring it up with you at your first appointment.

Once the test is done, the lab will usually send your results to your doctor within a few days.

If anything shows up, you can decide from there if you’d like to proceed with further tests.

How long do NIPT results take?

So how long does it take to get NIPT results?

If you’ve just had your NIPT test done and you’re waiting for the results, the wait can feel like an eternity.

But generally speaking, it takes about 5-10 working days to get your NIPT test results back.

What is the cost of NIPT test?

So what’s the NIPT test cost?

If you don’t have health insurance, most NIPTs come with a cost between $99 and $400, depending on where you have it done.

Can NIPT be covered by insurance?

Is NIPT covered by insurance?

Sometimes.

Insurance might cover testing if your baby is at higher risk for developing specific conditions.

And some insurance policies pay for this testing regardless of risk.

It’s worth asking your insurance company whether they cover NIPT testing, but be prepared to answer a few health-related questions.

Ultimately, whether you choose to have the NIPT test is entirely your choice to make.

But we get it, these are all big decisions.

If you want to learn about the experience of other mamas, or simply chat with people who know where you’re at, join us on Peanut.

We’re having the conversation.