Understanding NIPT

Non-Invasive Prenatal Testing

A simple blood test that gives you information about your baby's health

What Is NIPT?

A blood test that analyzes tiny pieces of your baby's DNA found in your bloodstream.

🩸 One blood draw from your arm
🔬 Lab analyzes cell-free DNA
📊 Results in 1-2 weeks

No risk to you or your baby

When Can You Have NIPT?

9+
Weeks pregnant
→
1-2
Weeks for results
→
✓
Discuss with provider

Usually offered between 10-13 weeks of pregnancy.

Can be done any time after 9 weeks through delivery.

What Does NIPT Screen For?

Condition What It Means
Trisomy 21 (Down syndrome) Extra copy of chromosome 21
Trisomy 18 (Edwards syndrome) Extra copy of chromosome 18
Trisomy 13 (Patau syndrome) Extra copy of chromosome 13
Sex chromosomes Differences in X or Y chromosomes

Some tests can check for other chromosome conditions too.

How Accurate Is NIPT?

>99%
Detection rate for
Down syndrome
~97%
Detection rate for
Trisomy 18
~95%
Detection rate for
Trisomy 13

NIPT is a screening test, not a diagnostic test.

This means it tells us the chance, but cannot give a definite yes or no answer.

Screening vs. Diagnostic Testing

Screening Tests

Tell us the probability of a condition

  • NIPT (blood test)
  • Ultrasound findings
  • First trimester screen

No risk to pregnancy

Diagnostic Tests

Give a definite answer

  • Amniocentesis
  • CVS (chorionic villus sampling)

Small risk of pregnancy loss (~1 in 500)

Understanding Your Results

Negative or Low-Risk Result

The test found a very low chance of the screened conditions.

This is the result most people receive.

A low-risk result is very reassuring
The screened conditions are unlikely
Continue routine prenatal care
No test can guarantee a perfectly healthy baby

High-Risk Results

Positive or High-Risk Result

The test found a higher chance of one of the screened conditions.

A high-risk result does NOT mean your baby definitely has the condition.

It means more testing is recommended to know for sure.

Your doctor will discuss the findings with you
You may be offered diagnostic testing (amniocentesis)
You'll meet with genetic counselors for support

Why Can Results Be Incorrect?

NIPT analyzes DNA in your blood, but sometimes that DNA doesn't perfectly match your baby's.

Reasons for inaccuracy:

  • Confined placental mosaicism
  • Vanishing twin
  • Maternal chromosome variation
  • Technical lab issues

What this means:

The DNA in your blood may come from the placenta (not the baby) or from other sources.

That's why diagnostic testing confirms results.

What If the Test Fails?

About 1-5% of NIPT tests don't give a result the first time.

Common reasons:

Not enough fetal DNA in the blood sample
Higher body weight (affects DNA concentration)
Too early in pregnancy
Technical lab issues

Usually you can repeat the test or choose a different screening option.

Who Should Consider NIPT?

NIPT is available to all pregnant people, regardless of age or risk factors.

Especially helpful for:

Anyone who wants reassurance about chromosome conditions
Maternal age 35 or older at delivery
Abnormal findings on ultrasound
Abnormal first trimester screening results
Previous pregnancy with chromosome condition
Family history of genetic conditions

What NIPT Cannot Tell You

NIPT does not screen for:

Neural tube defects (like spina bifida)
Heart defects
Most genetic syndromes
Physical abnormalities
Autism or developmental delays
Single gene disorders (like cystic fibrosis)

NIPT is one part of prenatal care. Ultrasounds and other tests give additional information.

Learning Your Baby's Sex

NIPT can tell you the fetal sex with high accuracy (>99%).

You can choose:

To learn the sex from NIPT results
To wait for the anatomy ultrasound (18-22 weeks)
To wait until birth

Some people also choose to test for sex chromosome differences (like Turner syndrome or Klinefelter syndrome). This is optional.

Cost and Insurance

Insurance coverage:

  • Often covered if you're 35+ or have risk factors
  • Coverage varies by insurance plan
  • Check with your insurance company first

Out-of-pocket costs:

  • Can range from $0 to $500+
  • Many labs offer financial assistance
  • Ask about payment plans

Your healthcare team can help you understand costs before you decide.

Is NIPT Right for You?

Only you can decide what's right for your pregnancy.

Questions to consider:

Would early information help you prepare?
How would you use the results?
Would you want diagnostic testing if NIPT is high-risk?
What are your values and preferences?

There's no wrong choice. Your healthcare team is here to support your decision.

What Happens Next?

Blood draw
(1 tube)
→
Lab analysis
(7-14 days)
→
Results to
your doctor
→
Discussion
of findings

If results are low-risk:

Continue routine prenatal care and ultrasounds

If results are high-risk:

Meet with genetic counselor → Consider diagnostic testing → Make informed decisions

You're Not Alone

Your healthcare team is here to support you through every step.

👨‍⚕️ Your OB provider: Guides your overall care and answers questions
🧬 Genetic counselor: Explains results and helps with decision-making
🏥 Maternal-fetal medicine: Specialists for high-risk situations
🤝 Support services: Connect you with resources and community

Key Takeaways

NIPT is a safe blood test that screens for chromosome conditions
It's very accurate but is a screening test, not a diagnosis
Most results are low-risk and very reassuring
High-risk results need follow-up with diagnostic testing
You choose whether NIPT is right for your pregnancy

Your healthcare team partners with you to make informed decisions about your care.

Questions to Ask Your Provider

Write down your questions and bring them to your next appointment.

Reliable Resources

American College of Obstetricians and Gynecologists (ACOG)

Patient education materials on prenatal testing

Society for Maternal-Fetal Medicine (SMFM)

Evidence-based information for patients

National Society of Genetic Counselors

Find a genetic counselor in your area

Your healthcare provider is your best source of personalized information.

Thank You

We're here to support you and your growing family.

Questions? Don't hesitate to reach out to your care team.

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