What Your NIPT Results Really Mean
Confused by 'positive' or 'high risk' NIPS results? This article helps you interpret your report and plan next steps.
Overview
Noninvasive prenatal screening (NIPS), also called noninvasive prenatal testing (NIPT), is a common blood test that screens for chromosomal conditions during pregnancy—like Down syndrome (trisomy 21), trisomy 18, and trisomy 13.
But what happens when your results come back and… they raise more questions than they answer?
If you’ve just received your NIPS report and you’re feeling anxious, you are not alone. This guide will help you understand what your results actually mean, what terms like “positive” and “high risk” are really saying, and what to do next.
What Is NIPS/NIPT, and What Does It Test For?
NIPS is a screening test, not a diagnostic test. That means it estimates the likelihood that your baby has certain genetic conditions—but it doesn’t confirm them.
It analyzes fragments of placental DNA in your bloodstream starting around 10 weeks of pregnancy.
Most NIPS panels screen for:
• Trisomy 21 (Down syndrome)
• Trisomy 18 (Edwards syndrome)
• Trisomy 13 (Patau syndrome)
• Sex chromosome differences (like Turner or Klinefelter syndrome)
• Optional add-ons like microdeletions or gender
Decoding Your NIPT Report
“Low Risk” or “Negative” | This means the test didn’t detect an increased likelihood for the conditions it screened for. That’s good news! But remember: no test is perfect. A “low risk” result doesn’t guarantee the absence of a condition. |
“High Risk” or “Positive” | This means the test detected a pattern that may suggest a higher chance of a chromosomal difference. But: • It’s not a diagnosis • It could be a false positive • Next steps typically include diagnostic testing like amnio or CVS |
“No Result” or “Inconclusive” | This happens in about 1–5% of cases. Common reasons include low fetal DNA (especially early in pregnancy or with a higher BMI). Your provider may recommend repeating the test. |
What Is a False Positive?
Because NIPT is a screening tool, there’s a chance of getting a “high risk” result when your baby doesn’t actually have a condition.
This is more common for:
• Rare conditions
• Sex chromosome differences
• Microdeletions
The positive predictive value (PPV) helps estimate how likely your result is to be correct. It depends on:
• Your age and risk factors
• The specific condition
• The testing lab’s algorithm
This is exactly where a genetic counselor can help make sense of it.
What Should I Do If My NIPT Is High Risk?
Don’t panic. You’re not alone—and you have options.
Next steps usually include:
Talking to a genetic counselor (that’s me!)
Considering diagnostic testing (CVS or amnio)
Ultrasound follow-up with a high-risk OB (MFM)
I’ll walk you through each of these and help you figure out what feels right for you and your family.
Common Questions I Hear from Clients
Did I do something wrong?
No. These conditions usually happen randomly during egg or sperm formation. Nothing you did caused this.
Should I get another NIPT test?
Usually not. If your result was high-risk, a second screen won’t offer new clarity—diagnostic testing is next. If the test was inconclusive, your provider may suggest repeating it.
What if I don't want invasive testing?
That’s okay. Some families prefer to wait and see. I can help you understand your options and weigh what’s right for yo
Recap
• NIPS/NIPT is a powerful tool, but it’s not perfect
• A high-risk result isn’t a diagnosis
• You have options—including diagnostic testing or additional screening
• You don’t have to navigate this alone