2026.05.23
Conclusion
An NIPT result is not a confirmatory diagnosis. To interpret the result correctly and to move toward confirmatory testing such as amniocentesis or make decisions about what comes next, "genetic counseling" is essential so that patients themselves can make informed, autonomous decisions.
What is NIPT (Non-Invasive Prenatal Testing)?
NIPT is a non-invasive test that analyzes fetal-derived DNA in the mother's blood to estimate the risk of chromosomal abnormalities.
NIPT (Non-Invasive Prenatal Testing) is a screening test that analyzes cell-free fetal DNA (cffDNA) present in maternal blood to estimate the risk of chromosomal number abnormalities such as trisomy 21 (Down syndrome) (1). While its sensitivity and specificity are both extremely high, at around 99%, it remains a screening test and does not provide a confirmatory diagnosis.
The Differences Between NIPT Results and What They Mean
NIPT results are classified into three categories: "high risk," "low risk," and "inconclusive." Because none of these is a simple declaration of safety or a confirmatory diagnosis, avoid taking the numbers or wording at face value.
- High risk (positive): Indicates an elevated likelihood of a chromosomal abnormality. However, the positive predictive value (PPV) varies depending on the target condition and maternal age, and false positives can occur (2).
- Low risk (negative): Indicates a low likelihood of a chromosomal abnormality. The negative predictive value (NPV) is very high, though false negatives occur in extremely rare cases.
- Inconclusive: Occurs when the criteria for a result cannot be met, for reasons such as a low cffDNA fraction in maternal blood. This happens in 1-2% of all cases (3).
| Result | Meaning | Example next step |
|---|---|---|
| High risk | Elevated likelihood of a chromosomal abnormality (not confirmed) | Amniocentesis / chorionic villus sampling (confirmatory diagnosis) |
| Low risk | Low likelihood of a chromosomal abnormality | Continue with regular prenatal checkups |
| Inconclusive | Cannot be determined due to insufficient DNA, etc. | Retest with NIPT, or other screening tests |
Why Is Genetic Counseling Necessary? Reasons and Benefits
Genetic counseling is the process that turns a test result into a "decision." Its purpose is to communicate specialized genetic information clearly, so that patients themselves can make well-informed decisions.
Academic research has shown that receiving genetic counseling significantly reduces the decisional conflict pregnant women experience and improves their knowledge of the condition in question (4).
- Benefits before testing: Helps you correctly understand the limitations of the test and the conditions it targets, and clarifies your purpose in undergoing it.
- Benefits after testing: Helps you interpret the result accurately and organize your future choices (such as whether to pursue a confirmatory diagnosis) based on your own values.
Because a positive NIPT result is ultimately only "a sign of possibility," it is recommended to undergo testing at a facility with proper support from specialist genetic counselors and physicians (5).
Concrete Options and Steps After NIPT
Through genetic counseling, patients make autonomous choices through the following steps.
If the result is high risk
Since NIPT alone cannot confirm a diagnosis, a confirmatory diagnosis through amniocentesis or chorionic villus sampling is recommended. During counseling, you compare and consider the timing of each test and the miscarriage risk (roughly 0.2% for the transabdominal method) to decide whether to proceed (5).
If the result is low risk
"Low risk" does not mean "completely normal." You receive support to understand which conditions NIPT cannot detect, and to continue appropriately with your prenatal checkups afterward.
If the result is inconclusive
You confirm the cause of the inconclusive result (such as maternal obesity or insufficient gestational age) and consider retesting or moving to a different test.
＼Find out your risk of Down syndrome or sex chromosome conditions during pregnancy／
Apply / Purchase a Kit
FAQ (Frequently Asked Questions)
Q1. If NIPT shows "high risk," does that mean the fetus definitely has an abnormality?
A. Not necessarily. NIPT is a screening test, and a confirmatory diagnosis requires additional testing such as amniocentesis or chorionic villus sampling.
Q2. Should couples receive genetic counseling together?
A. Yes, we recommend that couples attend together. Because the test results affect the whole family, it's important to align with your partner ahead of time on how you would respond to a high-risk result.
Q3. If NIPT shows "low risk," can I feel reassured?
A. NIPT's negative predictive value is very high, but because there are chromosomal and congenital conditions that NIPT cannot detect, it does not guarantee the complete absence of any abnormality.
[References]
(1) Heliyon, July 2024(2) Best Practice & Research Clinical Obstetrics & Gynaecology, February 2025
(3) Prenatal Diagnosis, July 2025
(4) Journal of Obstetrics and Gynaecology, May 2002
(5) seeDNA Genetic Testing & DNA Paternity Testing, "[Explained by a Specialist] The Background of a Positive NIPT Result and the Need for a Confirmatory Diagnosis"
Trusted Support from seeDNA Genetic Medical Research Institute
seeDNA Genetic Medical Research Institute is a trusted DNA testing and genetic testing specialist institute that holds ISO 9001 international quality certification and the Privacy Mark for privacy protection.
If you're concerned about disease risks for your unborn baby, biological relationships, or a partner's infidelity, our DNA testing experts are here to support you every step of the way, so please feel free to contact us.
[Free Consultation with Our Specialist Staff]
If you have any questions,
please feel free to contact our toll-free line.
／Open every day, including weekends／
Business hours: Monday-Sunday 9:00 AM - 6:00 PM
(excluding public holidays)
Author
M.D., Ph.D.
Tasuku Hiroshige
Doctor of Medical Science; Board-Certified Specialist and Supervising Physician, Japanese Urological Association; Certified Physician, Japanese Society of Medical Oncology; Board-Certified Specialist, Japanese Society of Anti-Aging Medicine; Certified Occupational Physician, Japan Medical Association; Certified Physician, Japanese Society of Chemotherapy; Certified Physician, Japanese Society for Sexually Transmitted Infections; Certificate of da Vinci System Training as a Console Surgeon, and others.
After graduating from Kagoshima University School of Medicine in 2010, he has built extensive clinical experience as a urologist. Beyond his clinical work, he is also actively engaged in academic activities such as presenting at conferences, writing papers, and securing research funding. In addition to being a board-certified urology specialist and supervisor, he holds certifications across a wide range of fields including cancer treatment, anti-aging medicine, and infectious disease treatment. Drawing on his extensive medical knowledge and skills, he provides care tailored to each individual patient.