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What if the NIPT test fails

What if the NIPT test fails

“What if the NIPT test fails? It happened to me twice. In the hospital, they looked at me strangely. Getting pricked three times for the NIPT test isn’t usually done. Usually, after the second attempt, you enter the medical whirlwind. In this article, I share my experiences with the non-invasive prenatal test.

Please note: these are my findings in the Netherlands – this is not a medical article.

What is the NIPT test?

During pregnancy, the NIPT (non-invasive prenatal test) tests your blood for the presence of Down syndrome, Edwards syndrome, and Patau syndrome in your unborn child. This blood test can also detect other chromosomal abnormalities in the blood, known as incidental findings. Here too, it concerns major deviations in the chromosomes.

To do or not to do the NIPT test: I never doubted

Even before pregnancy, one thing was clear: I would opt for the NIPT. Of course, it’s tough if the test reveals an abnormality. And I had thought about that too: in that case, I would terminate the pregnancy. Perhaps a selfish choice, but very logical for me. Then we would just stay the three of us. At such a moment, of course, you also think ‘such a wrong result won’t happen to me’… But during that second pregnancy, things went differently…

3x NIPT test

I ended up doing the NIPT test a total of three times. We only received the reassuring phone call at 18.5 weeks. At that point, we even waited until 20 weeks to announce the news. The pregnancy was a secret for most people (even in our immediate surroundings) the whole time. With family living 200 kilometers away, that’s somewhat easier, of course.

Investigation

And when you realize that we only got the results at 18.5 weeks, you also know how long it took. In theory, you can do the NIPT from as early as ten weeks into pregnancy. I did mine at 13 weeks. At that point, blood is drawn and sent to the laboratory. Genetic material from the child is present in the mother’s blood. This blood is then tested for the presence of Down syndrome, Edwards syndrome, and Patau syndrome in the unborn child.

Result

You receive the result of the NIPT test within 10 working days. Well, if you’re unlucky like me and it really does take 10 working days each time, then the clock keeps ticking. If the result is non-abnormal, no further testing is necessary. If an abnormality is detected, you can opt for further testing for certainty. About 90% of women with an abnormal result are pregnant with a child with Down syndrome. For Edwards syndrome and Patau syndrome, this applies to 90% and 50% of women with an abnormal result, respectively.

NIPT test fails

But your NIPT test can also fail, as was the case with me twice. The first time, something went wrong in the laboratory with the sample (although I only discovered that later because I didn’t immediately receive the result letter). And the second time, there wasn’t enough genetic material available. If it fails, you can try a third time. Did you know that the NIPT test fails more often if you are severely overweight (obese)? In that case, you can opt for an amniocentesis. How often does the test fail? It’s about 20 out of 1000 women. In 80% of women, the second attempt is successful.

What stress!

And whereas you might calmly get your blood drawn for the NIPT test the first time, by the third time, you’re definitely stressed. Even the ladies who draw blood look at you with surprise that you’re there for the third time. I couldn’t find much information online, which is why I wanted to share this blog with you. So, be aware that an NIPT test can not only detect an abnormality but can also fail.

Photo: Pexels – /arm-health-medical-blood-test-8460347/ – pexels-los-muertos-crew-8460347.jpg – My English is not very good, so I’m translating this with the help of Google Translate and ChatGPT.

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