[Doctor's Explanation] Should You Undergo NIPT (Non-Invasive Prenatal Testing)? — Decision Criteria and How to Choose Without Regret —

Revised on: March 22, 2026

For those wondering whether to undergo NIPT, a doctor explains in detail the mechanism, accuracy, and limitations of the test, medical decision criteria, how to organize your values, and how to make use of genetic counseling. We introduce 3 steps to a decision you won't regret.

Once pregnancy is confirmed and you start researching prenatal testing, you'll increasingly come across the term NIPT (Non-Invasive Prenatal Testing).
"Should I get tested?" "Is it irresponsible not to?" — you are by no means alone in carrying these doubts.

NIPT has drawn attention for its high accuracy, but it is a test that also carries ethical debates such as "the selection of life." In Japan, too, the number of people undergoing NIPT has been rising year by year; since testing began in 2013, cumulatively several hundred thousand or more people are said to have been tested. According to a report from the Ministry of Health, Labour and Welfare's expert committee, the annual number of people tested at NIPT-certified facilities exceeded roughly 25,000 as of fiscal 2022, and including uncertified facilities the figure is estimated to be several times that. As the number of people being tested increases, the number of people struggling with "whether or not to get tested" continues to grow as well. (1)

Against this backdrop, information about NIPT is flooding the internet, but not a little of it lacks accuracy or is biased toward a particular stance. Having correct medical knowledge and weighing it against your own values is the surest path to a choice you won't regret.

In this article, for those who are undecided about whether to undergo NIPT, we explain in detail — from a doctor's perspective — the "medical decision criteria," "organizing your values," and the points worth knowing in order to make a choice you won't regret.

[Conclusion] 3 steps for deciding whether to undergo NIPT
There is no single "correct answer" to whether or not to undergo NIPT. By organizing your thinking around the following three perspectives, you can move closer to a decision you're satisfied with.

These three steps don't need to be taken in order, but missing any one of them can lead to regret. In particular, Step 3, "simulating how you'll feel after receiving the results," is a point many people tend to overlook. It is extremely important to prepare yourself mentally for the results before undergoing the test. Internationally as well, the importance of informed consent before undergoing prenatal screening is repeatedly emphasized; the American College of Obstetricians and Gynecologists (ACOG) guidelines also recommend that pre-test counseling help expectant mothers make an autonomous decision based on full understanding.

What is NIPT (Non-Invasive Prenatal Testing)? Benefits and limitations

First, correctly understanding the basics of the test and "what it can and cannot reveal" is the first step toward a decision. NIPT stands for "Non-Invasive Prenatal Testing," a test that evaluates the risk of fetal chromosomal abnormalities by analyzing fetus-derived cell-free DNA (cfDNA) contained in the mother's blood.

This cfDNA is a DNA fragment released into the maternal bloodstream mainly through the process of apoptosis (natural cell death) of placental villous cells. The proportion of fetus-derived cfDNA out of all the cfDNA in maternal blood is called the "fetal fraction," and if this value is not above a certain threshold, accurate analysis becomes difficult. Generally, a fetal fraction of 4% or higher is considered to yield reliable results, and it has been reported that this threshold is met in many cases by around 10 weeks of pregnancy.

Benefit of NIPT: A highly accurate test with no miscarriage risk

• Testing method
  Fetus-derived DNA fragments (cfDNA) contained in maternal blood are analyzed using next-generation sequencers and similar technology. Because it can be performed with only a maternal blood draw, there is no direct invasion of the fetus. Testing is possible from around 10 weeks of pregnancy, and obtaining results earlier than with conventional prenatal tests is also a major benefit. The blood volume drawn is only around 10–20 ml, meaning the test can be undergone with a burden comparable to a routine health checkup.
• Safety
  Invasive tests such as amniocentesis and chorionic villus sampling are said to carry a miscarriage risk of about 0.1–0.3%. Because NIPT is completed with a blood draw alone, the fact that it carries no such miscarriage risk is its greatest advantage. It is valued especially by expectant mothers with strong anxiety about miscarriage, as a test they can undergo with peace of mind. In addition, NIPT does not carry the risks of intrauterine infection or membrane rupture associated with invasive tests, making it a test with extremely little physical burden. (2)
• High accuracy
  For trisomy 21 (Down syndrome), reports indicate a sensitivity of 99% or higher and a specificity of 99.9% or higher, and the negative predictive value (NPV) is extremely high — a negative result allows one to conclude with near certainty that the condition is absent. High detection rates have also been reported for trisomy 18 (Edwards syndrome) and trisomy 13 (Patau syndrome), though accuracy tends to be somewhat lower compared with trisomy 21. Specifically, the sensitivity for trisomy 18 is about 96–99%, and for trisomy 13 about 91–99%, both of which show higher detection rates than the conventional combined test (a combination of maternal serum markers and ultrasound). (3)
• Early availability of information
  Because testing is possible from as early as 10 weeks of pregnancy, even if a risk is detected, there is ample time afterward to consider how to respond. The turnaround time for results is also relatively short, typically 1–2 weeks. Obtaining information early also offers the practical benefit of allowing you to begin preparing a prenatal medical care system or gathering information on developmental support services.

Things to note about NIPT: This is not a "definitive diagnosis"

There is one crucial premise to keep in mind when considering NIPT: NIPT is strictly a "screening test," not a "definitive diagnosis." Failing to correctly understand this distinction risks misinterpreting the results and leading to unnecessary anxiety or a mistaken decision.

• It is strictly a screening test
  NIPT is not a "definitive diagnosis" that confirms a condition; it is a "screening test." Screening is a sorting test used to identify those at higher risk, and it does not mean "positive = has the condition." Misunderstanding this point before undergoing the test carries the risk of excessive distress or a hasty decision if a positive result is received.
• Understanding positive predictive value (PPV)
  Even a positive result only indicates "higher risk." In particular, for younger expectant mothers, the positive predictive value (PPV) tends to be lower. For example, the PPV when a 25-year-old expectant mother tests positive for trisomy 21 on NIPT may be lower compared with an expectant mother 35 or older. Confirmation requires an invasive test such as amniocentesis. Since PPV depends not only on the test's sensitivity and specificity but also heavily on the prevalence (prior probability) of the condition in the population being tested, it's important to understand that the same test result can carry a different meaning depending on age.
• Possibility of false positives and false negatives
  Though extremely rare, the possibility of false positives (a positive result when the condition is actually absent) or false negatives (a negative result when the condition is actually present) is not zero. Known causes of false positives include placental mosaicism (confined placental mosaicism, CPM), maternal chromosomal abnormalities, and vanishing twin syndrome in twin pregnancies. Confined placental mosaicism refers to a state in which the chromosomal makeup differs between the placental cells and the fetal cells; because NIPT analyzes placenta-derived cfDNA, a false positive can occur when the abnormality exists only in the placenta.
• Limited detection scope
  NIPT cannot detect all congenital conditions or disabilities. The chromosomal abnormalities primarily targeted by standard NIPT are trisomy 21, trisomy 18, and trisomy 13. Some tests also cover sex chromosome abnormalities and microdeletion syndromes, but NIPT can detect only a fraction of all congenital conditions. Structural abnormalities and single-gene disorders, for example, are generally outside the scope of standard NIPT. Congenital conditions are said to occur in about 3–5% of all births, but NIPT covers only some numerical chromosomal abnormalities within that — a small portion of the whole — and it's important to keep this in mind.

Medical decision criteria: Main situations where testing is considered

From a medical standpoint, we explain the main factors in what situations lead people to consider undergoing NIPT. In the past, undergoing NIPT often required meeting an age requirement or having a doctor's referral, but now, as the facilities offering the test have diversified, a much wider range of people can choose to be tested. The Japan Society of Obstetrics and Gynecology revised its guidelines in 2022, shifting its policy away from limiting NIPT to older expectant mothers and toward encouraging the provision of information to all expectant mothers. (1)

• Maternal age (advanced maternal age)
  Because the statistical risk of chromosomal abnormalities rises for expectant mothers 35 and older, this is one factor in the decision. Specifically, the incidence of trisomy 21 is said to be about 1 in 350 at age 35 and about 1 in 100 at age 40. Some reports even indicate the risk rises to about 1 in 30 by age 45. That said, more and more facilities now impose no age limit, and it is becoming less an era in which whether to test is decided by age alone. Even for younger women, strong anxiety is a legitimate reason to consider testing. Also, while the rise in maternal age is most clearly linked to increased risk of trisomy 21, the risks of trisomy 18 and trisomy 13 are also known to increase with age. (4)
• Ultrasound findings
  When morphological findings suggestive of a chromosomal abnormality are observed in the fetus (such as increased nuchal translucency or hypoplastic nasal bone), NIPT can provide useful additional information. When nuchal translucency (NT) shows a thickness above a certain level, the risk of chromosomal abnormality is known to rise, making the ultrasound result an important factor as a step toward NIPT. Generally, an NT of 3.5 mm or more is considered to significantly raise the risk of chromosomal abnormality. In addition, when multiple so-called "soft markers" are observed — such as structural heart abnormalities, renal pelvis dilation, or increased echogenic bowel — this too can be a trigger for considering NIPT.
• Prior pregnancy history
  If a chromosomal abnormality was confirmed in a previous pregnancy, or if there is a history of recurrent miscarriage, it is worth considering NIPT in light of the recurrence risk. Particular caution is needed when a parent carries a structural chromosomal abnormality such as a Robertsonian translocation. Carriers of a Robertsonian translocation often have a normal phenotype (appearance and health), but because the risk of trisomy occurring in the next generation is higher than in the general population, using NIPT alongside genetic counseling is recommended in some cases.
• Family history
  Having a family history of chromosomal abnormality is also a factor to consider. However, the vast majority of Down syndrome (trisomy 21) cases are sporadic, with genetic factors accounting for only about 5%. The absence of a family history does not mean the risk is zero, so a comprehensive judgment is needed. In particular, for translocation-type Down syndrome, hereditary factors are involved, so if there is a family history of the translocation type, the importance of genetic testing and counseling is even greater.
• Reducing psychological burden
  When anxiety during pregnancy is strong, the psychological aspect of wanting the peace of mind that comes with a negative result is also a legitimate consideration. In particular, those who conceived after fertility treatment or who have experienced a previous miscarriage tend to carry vague anxiety more easily. That said, it's important to fully understand, through pre-test counseling, the psychological burden that can come with a positive result as well. Research indicates that many expectant mothers who received a negative NIPT result reported a significant reduction in anxiety levels during pregnancy, and the value of NIPT is also recognized from the standpoint of psychological well-being.

Value-based decision criteria: What medicine alone cannot decide

The most difficult part of deciding about NIPT is the aspect of "values" that cannot be resolved by medical figures alone. Once you understand the test's accuracy and risk factors, the final decision of whether or not to undergo it is one that you and your partner make — not your doctor.
Please discuss the following questions with your partner and family.

Q1. How will you accept and make use of the results?

If the result is positive, will you continue the pregnancy, and how will you prepare after birth? There are multiple options, and which choice is "right" depends on each individual's values.
What matters is having some image beforehand of "what we would want to do if the result were positive." If you only begin thinking after receiving a positive result, calm judgment can become difficult amid the intense stress. One way to make use of this is to connect it to concrete preparation, such as "researching the developmental support environment after birth" or "confirming the support system available."

Also, the options after receiving a positive result are not limited to "continuing or ending the pregnancy." Another option is to receive a definitive test (amniocentesis) to confirm the diagnosis, and then build a collaborative support system with a pediatrician and developmental support specialists before birth. Obtaining information in advance makes it possible to arrange an environment where appropriate medical care can be received immediately after birth.

Q2. What does "knowing" mean to you?

Those who want to know
They believe that knowing in advance allows them to prepare mentally. This way of thinking is common among those who want to make an active, informed choice. Knowing offers the benefit of enabling concrete action, such as gathering information on developmental support facilities or confirming the medical care system, from before birth.
Those who don't want to know
They want to avoid the anxiety and conflict that comes from knowing. This way of thinking is common among those who want to welcome the birth in a natural flow, unaffected by test results. "The peace of mind protected by not knowing" is also a value worth respecting.

Neither position is one that others should deny — both are legitimate. What matters is that partners share their respective thoughts with each other and reach a decision they can both accept. Note that psychological research shows that the most important factors in decision-making about prenatal testing are "the quality of information" and "communication between partners." Receiving sufficient information and setting aside time to candidly share your feelings with each other leads to a choice you're less likely to regret.

Q3. Can you face the anxiety of not getting tested?

The anxiety that "if I don't get tested and something turns out to be wrong, I might regret it" is one major reason people consider testing. On the other hand, it is also true that some voices say, "getting tested left me carrying unnecessary anxiety." Calmly considering which risk weighs more heavily for you leads to a choice you won't regret.

As a hint for facing this question, psychological findings on "decision regret" can be helpful. People generally tend to carry "regret over inaction" longer than "regret over action." However, when it comes to prenatal testing, there are also reported cases of "suffering because of having found out," so it cannot be said which is universally better. It can be useful to reflect on your own personality tendencies and coping style, and consider "which pattern would I regret more."

The importance of genetic counseling: Getting help from experts

When you are undecided about whether to undergo NIPT, receiving genetic counseling is a highly effective option. Genetic counseling is a process in which a counselor or doctor with specialized genetic knowledge provides information on the test's content, interpretation of results, and psychological support. In Japan, certified genetic counselors and clinical genetics specialists take on this role, and genetic counseling clinics are set up mainly at university hospitals and general hospitals nationwide.

• Pre-test counseling
  You can receive accurate information about how NIPT works, its accuracy, and its limitations. In addition, by organizing in advance "what options exist if the result is positive," you can build mental readiness for the results. Pre-test counseling provides individualized information based on your own risk factors (age, medical history, family history, etc.), making it far more useful than general information gathering on the internet.
• Post-test counseling
  Especially if a positive result is received, you can receive multifaceted information and psychological support regarding how to proceed to a definitive test, the decision on continuing the pregnancy, and the support system after birth. It's important not to carry the burden alone, but to get help from experts. Since emotional distress is often significant immediately after a positive result, it is recommended to receive counseling as promptly as possible. Many facilities have an emergency counseling system in place for when a positive result is confirmed.
• A bridge between partners
  When opinions differ between partners, having a third-party expert involved can make it easier to organize each other's thinking. A counselor's role is not to push a particular choice, but to support the couple in reaching a decision they can be satisfied with themselves. The basic principle of genetic counseling is "non-directive counseling" — an approach that supports the client in making an autonomous decision, rather than steering them in a particular direction.

On the choice not to undergo NIPT

What we want to emphasize here is that choosing "not to undergo" NIPT is also a completely valid decision, with nothing wrong about it. Some people feel as if undergoing prenatal testing were an obligation or responsibility, but that is not correct.

There are various reasons for not getting tested. "I've decided to give birth regardless of the result, so testing is unnecessary," "I don't want to be swayed by test results," "I'm reluctant to proceed to an invasive definitive test" — all of these are views that deserve respect. NIPT is just one option among many, and there is no reason anyone should be blamed for not undergoing it.

The Japan Society of Obstetrics and Gynecology has also taken the position that prenatal testing should be based on the expectant mother's own autonomous decision-making. Please value the conclusion you and your partner reach through discussion, rather than being swayed by opinions around you. (1)

Note that even if you choose not to undergo NIPT, the fetus's growth and the presence or absence of morphological abnormalities continue to be monitored through the regular ultrasound examinations performed during prenatal checkups. NIPT is just one of several prenatal tests, and other non-invasive methods, such as ultrasound and maternal serum marker testing, also exist. Please keep in mind that "not undergoing NIPT" does not mean "obtaining no information at all."

Factors affecting NIPT accuracy and the latest findings

NIPT is said to be highly accurate, but it is also important to understand several factors that can affect the test results. Below is a summary of the main factors related to test accuracy.

1. Fetal fraction
   This is the proportion of fetus-derived cfDNA out of all the cfDNA in maternal blood. If this value is low, the reliability of the analysis decreases, which can result in a "no result" (requiring retesting). The fetal fraction tends to rise as pregnancy progresses, but it has been reported that the fraction tends to be lower when the mother has obesity (a high BMI).
2. Maternal body mass index (BMI)
   The higher the mother's BMI, the relatively greater the proportion of maternal-derived cfDNA, which dilutes and lowers the fetal fraction. Some studies report that when BMI is 30 or higher, the risk of requiring a retest is higher than for mothers of average body type.
3. Gestational age
   Because the fetal fraction rises as pregnancy progresses, testing at 11–12 weeks or later, rather than right at the 10-week threshold, is said to yield more reliable results. However, if testing is done too late, there may not be enough time to respond adequately after a positive result is confirmed, so it's recommended to undergo testing at an appropriate time.
4. Multiple pregnancy
   In multiple pregnancies involving twins or more, it can be technically difficult to determine each fetus's chromosomal status individually. In particular, for dizygotic twins, it has been pointed out that detection accuracy may be lower than in singleton pregnancies when only one of the fetuses has an abnormality.
5. Maternal chromosomal abnormality or mosaicism
   If the mother herself has low-level chromosomal mosaicism, or has a benign tumor, maternal-derived cfDNA can affect the test result and become a cause of a false positive.

Given these factors, NIPT results should always be interpreted comprehensively together with clinical information (ultrasound findings, age, medical history, etc.). Making a final decision based solely on a single test result is not recommended.

The historical background and international trends of NIPT

NIPT traces its origins to 1997, when Professor Dennis Lo of the Chinese University of Hong Kong discovered the presence of fetus-derived cfDNA in maternal blood. Building on this groundbreaking discovery, clinical use began in the United States in 2011 and then spread rapidly around the world. In Japan, introduction as clinical research began in 2013; initially it was offered only at a limited number of facilities, but it is now available nationwide at both certified and uncertified facilities.

Internationally, the UK's NHS announced in 2018 a policy to incorporate NIPT into its public screening program, and has been introducing it in stages. In European countries such as the Netherlands and Belgium, there is a growing trend to position NIPT as the first-choice screening test. On the other hand, in Iceland, reports that the birth of babies with Down syndrome has fallen to nearly zero following the spread of NIPT sparked international debate, with some raising the critical view that this represents "a return to eugenic thinking."

In this way, while NIPT is highly regarded as a medical technological advance, it is also a test that carries social and ethical challenges. In Japan too, discussions continue regarding prenatal testing and the rights of people with disabilities and the nature of an inclusive society, and it is considered desirable for individual decisions to be made with this social context in mind as well.

Summary: The process of deliberation itself is preparation for becoming a parent

There is no single correct answer to the question of "whether to undergo it or not."
What matters is making the decision after satisfying the following three points.

The decision of whether to undergo NIPT may be one of the biggest decisions you face during pregnancy. But the process of gradually deepening your thinking, even amid uncertainty, is itself part of preparing to welcome your baby. Whatever choice you make, as long as it is a conclusion you and your partner reached through discussion and are satisfied with, that is the best answer.

Finally, if you still feel uncertain after reading this article, please don't hesitate to seek out genetic counseling. Through dialogue with an expert, thoughts and feelings you hadn't noticed in yourself can become clearer. The seeDNA Genetic Medical Research Institute also accepts consultations regarding NIPT, so please feel free to contact us.

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Frequently Asked Questions

Q1. From what week of pregnancy can NIPT be performed?

A. Generally, testing is possible from 10 weeks of pregnancy onward. Once 10 weeks have passed, the concentration of fetus-derived cfDNA in maternal blood reaches a sufficient level for accurate analysis. The available testing period may vary by facility, so please check in advance. Also, since the fetal fraction rises as gestational age progresses, testing at 11–12 weeks or later is said to yield more stable results.

Q2. If NIPT comes back positive, does that mean the baby definitely has an abnormality?

A. No. NIPT is a screening test, and positive does not mean confirmed. A positive result indicates "elevated risk"; to confirm whether a chromosomal abnormality is actually present, a definitive diagnosis such as amniocentesis or chorionic villus sampling is required. Since false positives are also possible, please consult your doctor or a genetic counselor calmly if you receive a positive result, rather than panicking.

Q3. Is it a problem to choose not to undergo NIPT?

A. Not at all. NIPT is an optional test, and undergoing it is not an obligation. Reasons for not testing vary — "I've decided to give birth regardless of the result," "I don't want to be swayed by the result" — but all are decisions that deserve respect. What matters is reaching a decision you're satisfied with after discussing it with your partner.

Q4. Where can I receive genetic counseling?

A. Genetic counseling can be received at medical institutions where certified genetic counselors or clinical genetics specialists are on staff. In addition to the genetic medicine departments of university hospitals and general hospitals, some facilities offering NIPT also have counseling available on-site. The seeDNA Genetic Medical Research Institute also has a support system staffed by specialists, so please feel free to consult us.

Q5. How much does NIPT cost?

A. NIPT is basically an out-of-pocket expense and is not covered by insurance. The cost varies by facility and the test items selected, but generally ranges from tens of thousands to over a hundred thousand yen as a rough guide. The price also varies depending on the types of chromosomes tested (whether only the basic three, or also sex chromosomes and microdeletions), so please check each facility's fee structure in advance.

Q6. Can I undergo NIPT even if I'm under 35?

A. Yes, you can. In the past, many facilities set an age requirement of "35 or older," but now more and more facilities offer NIPT regardless of age. Anyone who feels anxious, regardless of age, may consider undergoing the test. That said, it's important to understand that for younger women, the positive predictive value tends to be relatively lower, and to keep this in mind when undergoing the test.

Q7. What kinds of conditions can NIPT not detect?

A. The conditions targeted by standard NIPT are mainly the three chromosomal abnormalities: trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), and trisomy 13 (Patau syndrome). Structural abnormalities (such as heart malformations), single-gene disorders (such as cystic fibrosis or sickle cell disease), and neural tube defects are generally outside the scope of standard NIPT. Since NIPT can cover only a portion of all congenital conditions, a negative NIPT result does not guarantee the absence of a congenital condition.

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Author

M.D., Ph.D.
Tasuku Hiroshige

Doctor of Medical Science; Board-Certified Specialist and Instructor, Japanese Urological Association; Board-Certified Physician, Japanese Society of Medical Oncology; Board-Certified Specialist, Japanese Society of Anti-Aging Medicine; Certified Occupational Physician, Japan Medical Association; Board-Certified Physician, Japanese Society of Chemotherapy; Board-Certified Physician, Japanese Society for Sexually Transmitted Infections; Certificate of da Vinci system Training As a Console Surgeon and more
After graduating from Kagoshima University School of Medicine in 2010, he has built extensive clinical experience as a urologist. Alongside clinical practice, he is also actively engaged in academic activities, including conference presentations, paper writing, and securing research funding. He holds specialist qualifications across a broad range of fields, including urology, cancer treatment, anti-aging medicine, and infectious disease treatment, and draws on his extensive medical knowledge and technical skill to provide care tailored to each individual patient.

[References]

(1) Medical Doc, March 2026
(2) Obstet Gynecol, October 2020
(3) J Biol Chem, March 1997
(4) Pregnancy & Childbirth Help Column, December 2025