[Explained by a Doctor] Preparing Before Taking NIPT | A Complete Guide to Costs and Genetic Counseling

Rewritten on: March 25, 2026

This article thoroughly explains, based on medical evidence, the 5 things you need to prepare before taking NIPT (understanding the test, discussing it with your partner, genetic counseling, organizing your family history, and confirming costs), along with test accuracy data, a comparison of prenatal tests, and the significance of genetic counseling.

[Conclusion] The 5 things you need to prepare before taking NIPT
NIPT (Non-Invasive Prenatal Testing) is a groundbreaking screening test that can check the risk of fetal chromosomal abnormalities from the mother's blood. However, there are numerous cases where women who took the test without adequate preparation were unable to make calm decisions when the result came back positive. Indeed, there are multiple reports of pregnant women who, without sufficient prior preparation or mental readiness, fell into intense anxiety or a state of panic upon receiving an unexpected positive result, making it difficult for them to reach an appropriate decision. If you receive your results without properly understanding that NIPT is merely a screening test and not a definitive diagnosis, you risk misinterpreting the results and experiencing unnecessary psychological distress. To avoid these risks and make the most meaningful use of your test results, it is extremely important to have a clear understanding of the following 5 points before taking NIPT. (1)

What is NIPT? — Definition, target conditions, and test accuracy

NIPT (Non-Invasive Prenatal Testing) is a screening test that analyzes cfDNA (cell-free DNA) derived from the fetus contained in the pregnant woman's blood using a next-generation sequencer, to assess the risk of numerical chromosomal abnormalities in the fetus. NIPT began as a clinical research initiative in Japan in April 2013 and has since spread rapidly. Initially offered only at select university hospitals and core hospitals, the number of facilities providing NIPT has expanded year by year alongside growing social demand, and today it can be taken at a substantial number of medical institutions, both certified and non-certified, across the country. (2)

The greatest advantage of this test is that it is completed with a simple blood draw. Unlike conventional definitive tests (amniocentesis and chorionic villus sampling), there is no need to insert a needle into the mother's uterus, so there is no risk of miscarriage and almost no physical burden on the mother or fetus. During pregnancy, fragments of fetal-derived DNA cross the placenta and mix into the mother's blood, and by analyzing this cfDNA with high sensitivity, it is possible to estimate numerical excesses or deficiencies in chromosomes. cfDNA is released into the mother's blood mainly when the chorionic villi (trophoblast cells) of the placenta undergo apoptosis (cell death), and by around 10 weeks of pregnancy a sufficient amount of cfDNA has accumulated in the blood for testing. This "placental origin" is one of the most important pieces of background knowledge for interpreting NIPT results. Because cfDNA is, strictly speaking, not released directly from the fetal cells themselves but originates mainly from the placenta's trophoblast cells, in cases where the genotype of the placenta differs from that of the fetus (such as confined placental mosaicism), the test result may not match the fetus's actual chromosomal makeup.

The technological foundation of NIPT is massively parallel sequencing (MPS) using a next-generation sequencer (NGS). This technology makes it possible to simultaneously analyze millions of DNA fragments in the mother's blood and statistically evaluate the proportion of DNA fragments derived from each chromosome. The basic principle is that if the proportion of DNA fragments derived from a particular chromosome is higher than expected, this suggests the possibility of a trisomy; the dramatic improvement in the precision of this analytical method has allowed NIPT to achieve high reliability as a screening test. In recent years, several approaches have been developed, including targeted sequencing and SNP (single nucleotide polymorphism)-based analysis, and while accuracy and the scope of analysis may differ slightly depending on the method used, the detection rate for trisomy 21 remains very high across all methods.

That said, it is essential to keep firmly in mind that NIPT is merely a "screening test," not a "definitive diagnosis." Even if the test result is positive, there are cases of "false positives" where no chromosomal abnormality actually exists, so a positive result always requires a definitive diagnosis via amniocentesis or chorionic villus sampling. Known causes of false positives include confined placental mosaicism (CPM), maternal chromosomal abnormalities, and vanishing twin syndrome, all of which stem from the limitation inherent in cfDNA being placenta-derived. In particular, in cases of a vanishing twin, cfDNA derived from the placenta of the already-absorbed twin fetus may remain in the mother's blood, which can be one factor causing a false positive. (3)

Standard target conditions

At facilities certified by the Japanese Association of Medical Sciences' Steering Committee for the Certification System for Prenatal Testing, the following 3 conditions are the standard test targets. All of these are caused by autosomal trisomy (a state in which a particular chromosome, normally present in 2 copies, is present in 3 copies), and it is known that their incidence increases with advancing maternal age. Regarding the link between maternal age and trisomy risk, the main factor is believed to be that the frequency of chromosomal non-disjunction occurring during meiosis in the oocyte increases with age. (2)

Down syndrome (trisomy 21) is the most common autosomal trisomy, with a reported incidence of approximately 1 in 1,250 births at maternal age 25, approximately 1 in 385 at age 35, and approximately 1 in 106 at age 40. Edwards syndrome (trisomy 18) is the second most common autosomal trisomy after Down syndrome, but the postnatal survival rate is low, with a mortality rate of over 90% within the first year of life. Patau syndrome (trisomy 13) is even rarer and presents one of the most severe clinical pictures. Because these three conditions all have a major impact on life expectancy and quality of life, there is strong demand among pregnant women who wish to know their risk in advance, and these are standardized worldwide as the primary targets of NIPT.

In addition, some non-certified facilities extend the scope of testing beyond the above 3 conditions to include sex chromosome abnormalities (such as Turner syndrome and Klinefelter syndrome) and microdeletion syndromes (such as 22q11.2 deletion syndrome). However, because expanded testing tends to have somewhat lower detection accuracy compared to standard testing, it is important to fully understand the meaning and limits of broadening the test scope before deciding whether to undergo it. In particular, the detection sensitivity for microdeletion syndromes varies considerably depending on the condition and the size of the deleted region, and it has been pointed out that the false-positive rate may be higher than for the standard 3-trisomy test. Because microdeletions involve changes in a very small region of the genome, detection can be technically difficult given the fragmentary nature of cfDNA. (4)

Accuracy of NIPT

According to a large-scale study by the NIPT Consortium conducted in Japan (a total of 34,691 tests), the sensitivity for Down syndrome (trisomy 21) was reported as 99.7%, with a specificity of over 99.9%. Sensitivity refers to "the probability of correctly testing positive when a chromosomal abnormality is actually present," while specificity refers to "the probability of correctly testing negative when no chromosomal abnormality is present." (5)

Regarding positive predictive value (the probability that a chromosomal abnormality is actually present given a positive result), it has been reported as 96.3% for trisomy 21, 86.9% for trisomy 18, and 53.1% for trisomy 13. These figures vary considerably depending on the mother's age and the prevalence of the target condition, and the positive predictive value tends to be lower in younger pregnant women. This can be explained by Bayes' theorem (a probabilistic method for calculating posterior probability from prior probability and test performance): in populations with a low prevalence (prior probability), the positive predictive value declines even for a test with high sensitivity and specificity. For example, because the prior probability of trisomy 21 differs greatly between a 25-year-old pregnant woman and a 40-year-old pregnant woman, even with the same "positive" NIPT result, the probability that the result actually reflects a chromosomal abnormality (the positive predictive value) differs greatly. This is one of the most important statistical concepts to properly understand before taking the test. (5)

International meta-analysis studies have also shown very excellent performance for NIPT, with a detection rate of over 99% for trisomy 21 and a false-positive rate of 0.04% or lower. These data confirm that NIPT offers markedly superior accuracy compared to conventional screening tests (maternal serum marker tests and the combined test). A large-scale meta-analysis published in 2015, which pooled 37 studies, reported a pooled sensitivity of 99.7% and a pooled specificity of 99.96% for NIPT's detection of trisomy 21, and these figures are widely cited around the world. (3)

Important: NIPT is a screening test and not a definitive diagnosis. If the result is positive, a separate definitive test — amniocentesis or chorionic villus sampling — is always required. Recognizing this point clearly before taking the test leads to a calmer decision-making process afterward. The high sensitivity and specificity of NIPT mean it is a "highly accurate screening test," but this does not mean it is "a 100% accurate diagnosis," and this point bears repeating.

3 essential points to confirm before taking NIPT

Insufficient preparation before the test makes it difficult to make a calm decision if the result comes back positive. Indeed, there are no shortage of reports of women who took NIPT without adequate prior preparation and experienced intense psychological stress upon receiving a positive result. Overseas research has reported that more than about half of pregnant women who received a positive NIPT result experienced moderate to severe anxiety, and it has been shown that whether prior information and counseling were provided greatly affects subsequent psychological adjustment. A systematic review published in 2019 also reported that acute anxiety reactions and distress over uncertainty are frequently observed as psychological responses after receiving a positive result on a prenatal screening test, and it has been made clear that whether or not prior preparation was undertaken affects the speed of recovery. Confirm the following 3 points in advance and prepare yourself mentally. (1)(6)

Point ① Clarify "why you are taking the test"

The main motivations for taking NIPT can be organized into the following 3 categories.

• Anxiety about an increased risk of chromosomal abnormality due to advanced maternal age (35 or older)
• Family history or a past pregnancy involving a chromosomal abnormality
• A recommendation from the doctor during a prenatal checkup

Guidelines from the Japanese Association of Medical Sciences emphasize that the decision of whether to take NIPT should be made by the pregnant woman herself after full consideration. If you take the test with a vague motivation such as "because people around me recommended it" or "because I feel somehow anxious," you risk not knowing how to respond if the result is positive, leaving you psychologically cornered. It is important to be able to clearly articulate, in your own words, your purpose for taking the test. (7)

NIPT is also a test that many people take "to gain peace of mind." If the result is negative, you obtain information indicating that the risk is low for the three trisomies covered by the test, which may help reduce anxiety during the remainder of the pregnancy. On the other hand, should the result be positive, you must also be prepared to shoulder the subsequent decision-making and psychological burden. Clarifying your purpose for taking the test is the first step toward mentally preparing yourself for any of these scenarios.

Furthermore, choosing "not to take" NIPT is of course also an option. Undergoing prenatal testing is not obligatory, and a decision to continue the pregnancy without taking the test should also be respected. What matters is that, whatever the choice, the pregnant woman and her partner make an autonomous decision based on sufficient information, and it is genetic counseling's role to support this decision-making process. It should be emphasized that NIPT is not a simple binary choice of "take it or not," but rather that the process of "choosing of your own will, after fully understanding it," is itself what matters.

Point ② Discuss "what to do if the result is positive" with your partner in advance

The following options should be considered if a positive result is received.

• Whether to undergo a definitive test (amniocentesis or chorionic villus sampling)
• How to respond after the definitive diagnosis (continuing the pregnancy, ending it, etc.)
• Consulting specialists (a genetic counselor or pediatrician)

If you only begin discussing this after the result comes in, you will lack the emotional composure needed to make a calm decision. It is important to set aside time to think things through carefully with your partner beforehand, and to have a candid discussion about "what choice we would make if the result were positive."

There is no right or wrong answer in this discussion. What matters is imagining every possible scenario so that you do not regret, after receiving the result, thinking "I never expected this." Because it is not uncommon for a couple's views to differ, it can also be helpful to include a specialist in the conversation during genetic counseling. Research has shown that couples who discussed matters together beforehand experienced significantly lower psychological stress after receiving a positive result and reported greater satisfaction with the decision-making process. (1)

Helpful questions to consider during this discussion include: "How do we feel about the miscarriage risk of a definitive test?" "What kind of daily life and support system would we expect if a chromosomal abnormality were confirmed?" and "What values matter most to us?" These questions are not meant to arrive at a single correct answer but to help you share your feelings with each other. It can also help make the discussion more concrete and constructive to research local childcare support systems and welfare services in advance.

Point ③ Understand what NIPT "can" and "cannot" tell you

NIPT is not an all-powerful test. Be sure to understand that "a negative result" does not mean "no abnormalities at all." NIPT can only detect certain numerical chromosomal abnormalities; structural abnormalities and single-gene disorders, for example, are outside its scope (see the next section for details). A negative NIPT result only means that "the risk of the three targeted trisomies is extremely low," and it is essential to firmly understand, before taking the test, that it does not comprehensively guarantee the fetus's overall health.

The difference between what NIPT "can" and "cannot" tell you

When considering taking NIPT, it is extremely important to accurately understand what this test can and cannot reveal. Excessive expectations of or misunderstandings about the test can lead to misinterpreting the results. Correctly understanding NIPT's limitations forms the basis for avoiding excessive reassurance or unnecessary fear about the results, and for taking appropriate medical action.

What NIPT can tell you

• The risk of trisomy 21, trisomy 18, and trisomy 13 (the standard test at certified facilities)
• Depending on the facility, the risk of sex chromosome abnormalities and microdeletion syndromes such as 22q11.2 deletion syndrome (expanded testing at non-certified facilities)

As noted above, NIPT is a test that primarily detects "numerical abnormalities" of chromosomes. In particular, for trisomy 21 (Down syndrome), the detection rate is extremely high, representing a major improvement in accuracy compared to conventional screening tests (such as maternal serum marker tests and the combined test). Whereas the sensitivity of conventional maternal serum marker tests was generally around 70-85%, NIPT achieves a sensitivity of over 99%, which is regarded as a qualitative leap in screening accuracy. This difference in accuracy stems from a fundamental difference in approach: maternal serum marker tests indirectly estimate risk from protein and hormone levels, whereas NIPT directly analyzes DNA itself. (5)

What NIPT cannot tell you

The following abnormalities cannot be detected by NIPT.

• Structural chromosomal abnormalities (translocations, inversions, deletions, duplications, etc.)
• Single-gene disorders (such as phenylketonuria and cystic fibrosis)
• Autism spectrum disorder and intellectual disability (multifactorial conditions)
• Structural abnormalities such as heart defects and cleft lip/palate
• Fetal growth restriction or placental dysfunction

Most structural abnormalities can be assessed via fetal ultrasound examination (a "fetal dock"). Even if the NIPT result is negative, it is important to continue with routine prenatal checkups and ultrasound examinations; it should be well understood that NIPT alone cannot reveal the full picture of the fetus's health. Because NIPT and fetal ultrasound examination each detect a different range of abnormalities, they are complementary to one another. (8)

Guidelines from the International Society of Ultrasound in Obstetrics and Gynecology (ISUOG) also position NIPT strictly as a screening tool for numerical chromosomal abnormalities, and recommend combining it with first-trimester ultrasound screening (including NT measurement) performed at 11-13 weeks of pregnancy. Because ultrasound can directly assess not only chromosomal abnormalities but also structural congenital anomalies (such as structural heart defects, gastroschisis, and spina bifida), it is an important means of checking fetal health from a different angle than NIPT. Structural congenital anomalies are said to occur in approximately 2-4% of all births, and most of these occur independently of numerical chromosomal abnormalities, meaning NIPT alone cannot cover them. To evaluate fetal health from multiple angles before birth, an approach combining NIPT with ultrasound examination is ideal.

Types of prenatal tests and how they compare

Prenatal tests include screening tests such as NIPT, as well as definitive tests such as amniocentesis and chorionic villus sampling. Each test has its own characteristics, and the advantages and disadvantages differ. To formulate the optimal testing plan, it is essential for pregnant women and their partners to accurately understand the features of each test. The main features of the leading prenatal tests are summarized below.

• NIPT: Blood draw only, no miscarriage risk, a screening test, available from 10 weeks of pregnancy, mainly targets three trisomies
• Combined test: Blood draw plus ultrasound, no miscarriage risk, a screening test, performed at 11-13 weeks of pregnancy, estimates trisomy risk
• Quad test: Blood draw, no miscarriage risk, a screening test, performed at 15-21 weeks of pregnancy, targets trisomies and open neural tube defects
• Chorionic villus sampling (CVS): Tissue sampling with a needle, miscarriage risk of 0.3-1%, a definitive diagnosis, performed at 11-13 weeks of pregnancy, covers chromosomes broadly
• Amniocentesis: Amniotic fluid sampling with a needle, miscarriage risk of 0.1-0.3%, a definitive diagnosis, performed at 15-18 weeks of pregnancy, covers chromosomes broadly

Because NIPT is non-invasive and carries no miscarriage risk, it is the safest method among screening tests. However, since it is not a definitive diagnosis, a positive result requires confirmation via chorionic villus sampling or amniocentesis. Meanwhile, the combined test and quad test are also non-invasive screening tests, but their sensitivity and specificity are somewhat inferior compared to NIPT.

The combined test calculates risk by combining the ultrasound measurement of the fetus's nuchal translucency (NT) with maternal serum markers (PAPP-A and free β-hCG). Its sensitivity is around 80-90%, which is lower than NIPT's sensitivity of over 99%, but it offers complementary value in that it can sometimes detect signs of structural abnormalities that NIPT does not target (increased NT itself can be an indicator of heart disease or other genetic abnormalities). Marked NT thickening can suggest congenital heart disease or Noonan syndrome even in the absence of a numerical chromosomal abnormality, so structural evaluation via ultrasound provides important clinical information that NIPT cannot offer.

Because the timing for each test differs, planning a schedule in advance for "when to take which test" leads to a more relaxed decision-making process. In particular, if you wish to choose chorionic villus sampling in the event of a positive NIPT result, the NIPT result needs to be available by around 13 weeks of pregnancy, so it is important to plan your schedule working backward from that point. When planning your testing schedule, be sure to consult thoroughly with your regular obstetrician or a genetic counselor to determine the optimal schedule for your stage of pregnancy. Guidelines from the Japan Society of Obstetrics and Gynecology likewise emphasize the importance of providing thorough explanations before testing and of autonomous decision-making based on the pregnant woman's understanding. (9)

What is genetic counseling? Its purpose and benefits

Genetic counseling is a medical practice that provides accurate medical information about a test while also offering psychological and social support so that the client can make an autonomous decision (as defined by the National Society of Genetic Counselors, 2006). (9)

The Japanese Association of Medical Sciences holds that, in principle, one should receive genetic counseling from a clinical geneticist or a certified genetic counselor when taking NIPT. Genetic counseling is not simply an "explanation of the test"; it is a place where specialists provide support tailored to the anxieties and questions of the pregnant woman and her partner, helping them reach the best possible decision. Although the quality of genetic counseling may vary by facility, certified facilities have a clinical geneticist or certified genetic counselor on staff, ensuring a consistent standard of care. (7)

In genetic counseling, in addition to providing information on how to interpret test results and the subsequent options available, psychological support also plays an important role. Especially in counseling sessions following a positive result, the process of empathizing with the feelings of the pregnant woman and her partner while jointly considering the path forward is emphasized. The core philosophy of genetic counseling is "non-directive counseling," which aims not to recommend a particular option but to support the client in making an autonomous decision based on their own values. This "non-directive" approach is grounded in the bioethical principle of "respect for autonomy," which carries particular significance in the extremely sensitive area of prenatal testing.

Another important function of genetic counseling is to check the understanding of the pregnant woman and her partner before the test and to correct any misunderstandings or excessive expectations in advance. Taking the test without correctly understanding that NIPT is essentially a screening test carries the risk of over-trusting a negative result as "complete peace of mind" or misunderstanding a positive result as "a definitive diagnosis." Genetic counseling plays an essential role in preventing such cognitive distortions and promoting calm decision-making based on accurate information. Indeed, multiple studies have reported that pregnant women who received genetic counseling had significantly higher levels of knowledge about NIPT and better psychological adjustment to the test results compared to those who did not receive counseling. (6)

What you can confirm through genetic counseling

• A detailed explanation of NIPT's purpose, mechanism, and accuracy
• The meaning of positive and negative results and the next steps for each
• The process for a definitive diagnosis (amniocentesis or chorionic villus sampling)
• The medical and welfare support system available if a chromosomal abnormality is confirmed
• Answers to questions and concerns from the pregnant woman and her partner
• Comprehensive information covering even the option of not taking the test

Specialists who provide genetic counseling

As of October 2024, there are 562 medical institutions nationwide certified by the Japanese Association of Medical Sciences to perform NIPT. A list of certified facilities can be found on the website of the Japanese Association of Medical Sciences' Steering Committee for the Certification System for Prenatal Testing, so anyone considering taking the test is encouraged to first look for a certified facility in their area. Certified facilities are reviewed and certified by the Japanese Association of Medical Sciences as meeting a set of standards, including having specialist physicians on staff, an established genetic counseling system, and a cooperative arrangement for definitive testing. (2)

The psychological impact of NIPT and the importance of preparation

As NIPT has become more widespread, research on how test results affect the psychological state of pregnant women and their partners has been accumulating both in Japan and abroad. According to a systematic review on the psychological impact of prenatal testing, pregnant women who receive a positive NIPT result show a higher rate of experiencing anxiety, depression, and decisional conflict. These psychological reactions may be temporary in some cases and may persist throughout the pregnancy in others, with considerable individual variation. (1)

On the other hand, some reports indicate that pregnant women who received adequate genetic counseling before the test and discussed matters with their partner showed relatively good psychological adjustment even after receiving a positive result. This is thought to occur because prior preparation turns an "unexpected result" into an "expected result," softening the psychological impact. Psychologically, this phenomenon is called "anticipatory coping," referring to the mechanism by which anticipating a difficult situation in advance reduces the resulting stress response.

The period of waiting for NIPT results (usually 1-2 weeks) is also a time when pregnant women tend to become psychologically unstable. To ease stress during this waiting period, it is helpful to accurately understand in advance how NIPT works and what the results mean (namely, that it is only a screening test, and that the negative predictive value is very high). The negative predictive value (the probability that no chromosomal abnormality is actually present when the result is negative) for trisomy 21 is close to nearly 100%, and the reassurance provided by a negative result is backed by statistically solid evidence.

In recent years, attention has also turned to the psychological impact when an NIPT result turns out to be a false positive (NIPT positive → negative on the definitive test). Some women who have experienced a false positive continue to feel residual anxiety for some time even after the definitive test confirms a negative result. To minimize this kind of psychological impact, it is extremely important to correctly understand the concept of positive predictive value before taking the test. Knowing in advance that a false positive is possible allows a woman, even if the result is positive, to avoid falling into panic and instead maintain the calm understanding that "this is still only the screening stage, and a definitive diagnosis must be awaited." (6)

What to actually prepare before taking NIPT (5 steps)

Here, we explain the concrete preparations you should actually make before taking NIPT, broken down into 5 steps. Working through each step in order will allow you to face test day with peace of mind.

1. Step 1: Receive genetic counseling
   At certified facilities, genetic counseling both before and after the test is mandatory. To make the most of counseling, it is effective to write down your questions and concerns beforehand. Preparing specific questions — such as "What can NIPT tell me?" "What options are available if the result is positive?" and "How much risk is involved in a definitive test?" — allows you to make efficient use of your limited counseling time. In the initial counseling session, you will receive a basic explanation of how the test works, its accuracy, and its limitations, with supplementary information provided according to your level of understanding. Attending counseling together with your partner is also strongly recommended.
2. Step 2: Organize your family and medical history
   Organize in advance any family history of chromosomal abnormalities or genetic disorders on both sides of the couple. Past pregnancy history (miscarriages, abnormalities in previously born children, etc.) is also important information. If you do not have records on hand, check with your regular obstetrician. Family history information is essential for personalizing the content of genetic counseling and improving the precision of risk assessment. If possible, it is helpful to prepare a simple three-generation family tree (genogram) beforehand, making it easier to convey accurate information during counseling. In particular, if there is a history of a previous pregnancy resulting in a child with Down syndrome or another chromosomal abnormality, this can directly affect the interpretation of NIPT results and risk assessment, so it is important to have accurate information ready.
3. Step 3: Discuss matters with your partner in advance
   Take time to calmly discuss with your partner how you would respond to a positive result — whether to undergo a definitive diagnosis, how to respond if a chromosomal abnormality is confirmed, and where to seek specialist consultation. You do not need to reach a complete conclusion at this stage, but it is important to share your feelings and values with each other. If the discussion proves difficult, it can also be effective to have your partner join you at genetic counseling sessions to discuss things together with a specialist present. During this discussion, it is also worthwhile to accurately understand the miscarriage risk involved in a definitive test (0.1-0.3% for amniocentesis, 0.3-1% for chorionic villus sampling) and to share your thoughts on how to weigh that risk.
4. Step 4: Confirm the testing schedule
   NIPT can be taken from 10 weeks of pregnancy onward, and results are typically available within 1-2 weeks. Plan your schedule with the timing of a definitive test in mind, in case the result is positive.

   Definitive test	Available timing	Miscarriage risk
   Chorionic villus sampling (CVS)	11-13 weeks of pregnancy	0.3-1%
   Amniocentesis	From 15 weeks of pregnancy	0.1-0.3%

   The key is to work backward from the 1-2 weeks needed for the NIPT result and the subsequent period before a definitive test, to build a schedule with no undue pressure. In particular, if you wish to choose chorionic villus sampling should NIPT come back positive, the NIPT result needs to be available by around 13 weeks of pregnancy, so it is preferable to take NIPT no later than around 11 weeks of pregnancy.
5. Step 5: Understand the overall cost picture
   NIPT is not covered by insurance, so the full cost is out of pocket. The cost varies considerably depending on the facility and the scope of testing. It is also important to understand the overall cost picture, including not just the cost of NIPT itself but also the cost of a definitive test if the result is positive. Because genetic counseling fees may be charged separately, be sure to check with your chosen facility in advance.

   Test	Estimated cost
   NIPT (certified facility)	Approximately 100,000-200,000 yen
   NIPT (non-certified facility)	Approximately 50,000-200,000 yen
   Amniocentesis	Approximately 100,000-150,000 yen

   If you have concerns about the cost, some local governments have set up consultation desks for prenatal testing, so it may be worth contacting your local public health center.

Test timing and estimated costs

When to take NIPT and the process leading up to a definitive diagnosis

The timing at which you take NIPT has a major impact on the schedule for your subsequent decision-making. Below is a summary of the typical process from taking the test to reaching a definitive diagnosis.

• From 10 weeks of pregnancy: Take NIPT
  This is completed with a blood draw alone. Some medical institutions recommend taking the test between 10 and 13 weeks of pregnancy. Because the concentration of cfDNA (fetal-derived DNA fragments) in the blood rises as pregnancy progresses, sufficient accuracy can be expected from 10 weeks onward. At 10 weeks of pregnancy, the fetal fraction (the proportion of fetal-derived cfDNA in the mother's blood) averages around 10-15%; if this proportion is below 4%, test reliability decreases and a retest may be recommended. A low fetal fraction tends to occur when the mother's BMI is high or when the pregnancy is at an early stage, and in such cases, retesting after allowing the pregnancy to progress a little further often yields sufficient accuracy.
• If positive: Choosing a definitive test
  You will choose either chorionic villus sampling (11-13 weeks of pregnancy) or amniocentesis (from 15 weeks of pregnancy onward). Which to choose depends on the stage of pregnancy and consultation with your doctor. Chorionic villus sampling has the advantage of yielding results earlier than amniocentesis, but interpretation of the results can be more complicated due to the effect of confined placental mosaicism. Amniocentesis directly cultures fetal cells to analyze chromosomes, and thus has the advantage of being less affected by confined placental mosaicism.
• 1-3 weeks later: Definitive diagnosis
  Based on the results of the definitive test, you will decide on your path forward through genetic counseling. The results of a definitive diagnosis, obtained by directly evaluating chromosomes using methods such as G-banding, FISH, or microarray analysis, provide definitive information distinct from the screening results of NIPT. In the genetic counseling session following the definitive diagnosis (post-test counseling), comprehensive information about the medical interpretation of the results as well as the options going forward, along with psychological support, is provided.

Taking NIPT at around 12-13 weeks of pregnancy leaves both chorionic villus sampling and amniocentesis available as options in the event of a positive result, providing more scheduling flexibility. Because both taking the test too early and too late carry drawbacks, discuss the optimal timing with your regular doctor or genetic counselor. While taking NIPT early gives you more time to obtain information, the early stages of pregnancy also carry a possibility of natural miscarriage, so the timing of the test should be judged according to individual circumstances. On balance, 11-13 weeks of pregnancy is often considered the most reasonable time to take NIPT, but the final decision should be made in consultation with your regular doctor.

NIPT's international standing and latest trends

NIPT has spread rapidly not only within Japan but around the world, and it is highly regarded in international obstetric and genetic medicine guidelines. In its 2020 practice guidelines, the American College of Obstetricians and Gynecologists (ACOG) recommends offering NIPT as the first-choice screening test for all pregnant women. Whereas NIPT was originally recommended only for older or high-risk pregnant women, international consensus is shifting toward the view that it should be offered as an option to all pregnant women regardless of age or risk factors. (3)

In the United Kingdom as well, the NHS (National Health Service) launched a pilot program in 2018 incorporating NIPT into the Down syndrome screening pathway, adopting a "contingent screening" model in which NIPT is offered to pregnant women identified as high-risk by the conventional combined test. This model has attracted attention as an approach that balances cost efficiency with test accuracy, and it has been reported to significantly reduce the number of unnecessary invasive tests (amniocentesis and chorionic villus sampling) performed. (4)

Meanwhile, as NIPT has become more widespread, ethical debate has also intensified. There are concerns that the ease of taking NIPT may encourage testing without sufficient reflection or an overly hasty decision to terminate a pregnancy based solely on the test result, and the importance of genetic counseling is being emphasized now more than ever. The World Health Organization (WHO) has also repeatedly stated the importance of ethical considerations regarding prenatal testing, holding that a system to support the pregnant woman's autonomous decision-making is essential when offering such tests.

As for the latest research trends, efforts are underway to further expand the scope of NIPT to include the detection of single-gene (monogenic) disorders. However, at present such expanded applications remain at the research stage, and because clinical accuracy, cost-effectiveness, and ethical issues have not yet been sufficiently resolved, they have not reached the point of being recommended as standard clinical practice. While technological innovation in NIPT is advancing rapidly, it is important for anyone considering the test to clearly distinguish between "what NIPT can reliably tell you today" and "what may become possible in the future but remains limited at this stage."

＼Learn your risk of Down syndrome and sex chromosome conditions during pregnancy／

Frequently Asked Questions

Q1. Can anyone take NIPT?

A. At certified facilities, testing is offered to pregnant women who meet certain conditions, such as being at least 10 weeks pregnant, in accordance with guidelines from the Japanese Association of Medical Sciences. Non-certified facilities may have more relaxed conditions. Be sure to check the requirements of your chosen facility before taking the test. Note that following a 2022 revision of the guidelines, the age restriction has been lifted even at certified facilities, allowing a wider range of pregnant women to take NIPT than before. (7)

Q2. Can I feel reassured if my NIPT result is negative?

A. A negative result only indicates that "the risk of the three trisomies covered by the test is low"; it does not guarantee the absence of all chromosomal abnormalities or structural abnormalities. It is important to understand that "negative" does not mean "completely healthy." Because structural abnormalities can be assessed via fetal ultrasound examination (a "fetal dock"), consider combining this with NIPT. (8)

Q3. Is genetic counseling mandatory?

A. At certified facilities, genetic counseling both before and after taking NIPT is a mandatory requirement. At non-certified facilities, it may be optional. The Japanese Association of Medical Sciences recommends, in principle, receiving genetic counseling. Genetic counseling allows you to fully understand the meaning of the test, its risks, and the options available once you have the results. (7)

Q4. If the result is positive, must I undergo amniocentesis?

A. Even with a positive result, whether to undergo a definitive test is up to the pregnant woman's own decision. It is important to make an autonomous decision after receiving genetic counseling. Because definitive tests (amniocentesis and chorionic villus sampling) carry a slight risk of miscarriage, carefully weigh that risk against the benefit of obtaining a definitive diagnosis.

Q5. What is the difference between certified and non-certified facilities?

A. Certified facilities are reviewed and certified by the Japanese Association of Medical Sciences' Steering Committee for the Certification System for Prenatal Testing, and have specialist physicians on staff along with an established genetic counseling and support system. Non-certified facilities are not legally prohibited, but the level of counseling and follow-up support varies considerably from facility to facility. In particular, the psychological support offered after a positive result and the arrangements for connecting to definitive testing are important points to consider when choosing a facility. (2)

Q6. Can the NIPT result come back as "requiring a retest"?

A. Yes, in rare cases a retest may be required. This can occur, for example, when the proportion of fetal-derived cfDNA in the blood (the fetal fraction) is low. The fetal fraction is known to be affected by the mother's body weight (tending to decrease with a higher BMI) and the stage of pregnancy. In the case of a retest, you will either undergo another blood draw and retest, or consider another testing method.

Q7. Can NIPT be taken for a twin pregnancy?

A. NIPT can be taken for a twin pregnancy, but test accuracy may be somewhat lower compared to a singleton pregnancy. In addition, if the result is positive, it can be difficult to determine which fetus has the abnormality, so be sure to consult your doctor or genetic counselor in advance.

Q8. Is the cost of NIPT eligible for a medical expense tax deduction?

A. NIPT is not covered by insurance, but whether it qualifies for a medical expense deduction depends on individual circumstances and tax rules. Generally, the cost of a test performed under a doctor's judgment may be eligible for a medical expense deduction, but for a definitive determination, please consult your local tax office or a tax accountant. Because the cost of a definitive test (amniocentesis or chorionic villus sampling) is likewise out of pocket, it is recommended to understand the total cost from NIPT through to a definitive test in advance.

[References]

(1) NSGC
(2) J Perinat Neonatal Nurs, July 2014
(3) Med J Aust, July 2015
(4) Ministry of Health, Labour and Welfare, "NIPT Consortium Data," 2019
(5) Sci Rep, July 2015
(6) Japan Society of Obstetrics and Gynecology, October 2022
(7) Oncology (Williston Park), May 2016
(8) Steering Committee for the Certification System for Prenatal Testing, November 2023
(9) Cancer Biother Radiopharm, May 2019