NIPT in Pregnancy: The What, Why, and How

Since becoming pregnant, I have had tons of people ask “How did I find out the sex so early?”. Easy, NIPT testing!

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What we already knew, it’s a boy!

Traditional Fetal Screening

As a physician, I had heard vague whisperings of a test in pregnancy called “NIPT”, but I do not treat pregnant patients so I never looked into it. Then I became pregnant, did some research, and immediately knew it was for me!

Traditionally, we screen for chromosomal abnormalities known as Trisomy 21, Trisomy 18, and Trisomy 13. We normally have two copies of DNA, one set from our mom, the other from our dad. Rarely, we can have three copies, referred to as a Trisomy. Trisomy 21 is commonly known as Down syndrome and of the fetuses that do survive to full-term, there is a 75% chance of surviving past the first year of life. Trisomy 18 and 13 do not have a high-survival rate and are not as well-known. Children affected with Trisomy 18, aka Edwards syndrome, have about a 5-10% chance of survival to their first birthday. And children with Trisomy 13, aka Patau syndrome, have a similar rate of survival with 5-10% chance of surviving to their first birthday.

The trisomies

Traditional screening involves a combination of blood work and ultrasounds during the first and second trimester. At times, more invasive testing, like amniocentesis, is recommended.

Why I chose NIPT

NIPT

I am not high-risk. I am under the age of 35 without any family history of chromosomal abnormalities and this is my first child. But I know too much. Being in the healthcare field teaches you all the worst case scenarios. I knew that the blood tests and US’s weren’t 100%, and I didn’t have the patience to wait through my second trimester for these results.

What is NIPT?

Enter NIPT in pregnancy. This is a newer form of testing for these chromosomal abnormalities. NIPT stands for non-invasive prenatal testing, or cell-free DNA. A blood sample is drawn after 10 weeks gestation and the fetuses DNA is “filtered” out. This allows direct chromosomal testing without any invasive testing, i.e no risk to the baby or mother.

How accurate and predictive is it?

This test has been study and compared against traditional screening methods and it showed a higher sensitivity for the detection of Down syndrome, a lower false-positive rate, and a higher positive-predictive value. What this means for you: A better way to screen that has a higher rate of accuracy compared to other screening methods.

The Downside

With all good things comes a downside. Cost is the biggest limiting factor. Your insurance will not cover the cost of the testing if you are not high-risk. The test can range from 100’s to thousands of dollars, with NIPT.co quoting a price of $1600. However, there are several labs that will work with you if your insurance does not cover it, with some discounts accounting for a total cost of around $150.

The other downside is the ability to filter out the needed sample. The earlier the test is done, the less the amount of fetal blood is in your system. This can make it difficult to get an adequate sample. There are some women who have failed to get an adequate sample even after two attempts, and you can imagine this would get very expensive. I had my labs drawn at 10 weeks 2 days and I did not have an issue with an inadequate sample.

Availability can also be a problem. While I haven’t heard of the test being unavailable in certain areas, I have heard of physicians or other medical professionals being uncomfortable or unfamiliar with the test, so they do not offer it unless you are high-risk. This is doctor dependent and you may want to include this in your research when looking for an Ob/Gyn or midwife.

Added Bonus

Now the sex! While I got tested for the medical reasons, I also got the added benefit of knowing the sex at 11 weeks (it takes about a week to get the results). The sample they have drawn is your baby’s DNA, that is the best indicator of sex you can get. And the earliest! You have the option of opting out of this. In the forms you fill out, you can select that you do not wish to know the sex. I did not select this option and even still, my provider asked me again if I wanted to know the sex before she told me the results. It is an option that you can choose or decline.

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From where I stand

Be informed, NIPT isn’t for everyone

So that’s the latest and greatest. Just be aware of your testing options and know what you are testing. I wanted to know because I would stress the whole pregnancy thinking about everything that could go wrong. This gave me peace of mind early on, and I don’t have to do any more screening for these conditions. Many women don’t want to know and that is your right as well. We all want what is best for our child so make an informed decision!

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