Cost of NIPT

Cost of NIPT

NIPT, which has been available in Japan since 2013, raises several questions for those considering it: Where can you undergo NIPT? How much does it actually cost, given that it's often described as expensive on TV and online? Is it eligible for medical expense deductions?

Below, we provide detailed information about the costs associated with NIPT, which we hope you will find helpful.

Undergoing NIPT

NIPT is not available at all hospitals; there are certified medical institutions and non-certified medical institutions. There are the following differences between them.

Cost of the Test

The process of NIPT testing is as follows:

1. Visit the outpatient department of obstetrics.
2. Receive genetic counseling.
3. Blood collection for NIPT testing.
4. Explanation of test results.
5. If the result is positive or indeterminate, confirmatory testing such as amniocentesis is required.
6. Explanation of amniocentesis test results.

Each step incurs associated costs.

① Visiting the Obstetrics Outpatient Clinic

If NIPT testing is not conducted at the hospital where you are receiving outpatient care, you will need to visit a specific medical institution for consultation. In such cases, an initial consultation fee is charged, and the presence or absence of a referral letter can lead to a difference in costs of approximately 5,000 yen. Additionally, obtaining a referral letter typically costs around 3,000 yen.

② Genetic Counseling

Counseling is typically conducted before undergoing the test and is generally attended by both spouses or partners.

• The pros and cons of undergoing or not undergoing the test
• What can be determined and what cannot be determined through the test
• The fact that NIPT is a screening test and that definitive tests such as amniocentesis or chorionic villus sampling (CVS) may be necessary
• Potential symptoms in children born with genetic disorders associated with chromosomal abnormalities
• Possibilities related to genetics
• Options for the next steps based on the test results
• Potential impacts on children from advanced maternal age pregnancies

You receive scientifically based accurate information and guidance from clinical genetic specialists or certified genetic counselors regarding these matters.

③ Blood Draw for NIPT

Genetic counseling is conducted, and after understanding and obtaining consent in writing, the test (blood sampling) is performed. Previously, all samples were airlifted to the United States for analysis because testing could not be done domestically in Japan. However, now analysis can be conducted within the country.

Some hospitals conduct genetic counseling on the same day as the test, while others schedule it for a later date.

Test results can be "negative," "positive," or "undetermined." In cases of an undetermined result (neither negative nor positive), another blood sample may be required. If the result is positive, a definitive test is necessary, typically involving amniocentesis.

Some hospitals include counseling fees and, in the case of a positive result, the cost of amniocentesis in the test fees.

④ Post-test Genetic Counseling

After approximately 1-2 weeks following the test, the results are disclosed. Post-test, another genetic counseling session is typically conducted. If the result is negative, the testing process concludes at this stage. However, rare instances can occur where a negative result is received despite fetal abnormalities or a positive result is received despite no abnormalities. In such cases, further confirmation through amniocentesis is necessary to obtain a definitive diagnosis. The genetic counselor explains these possibilities during the counseling session.

⑤ Amniocentesis

If the NIPT result is positive, it necessitates further genetic counseling with a specialist and the consideration of an amniocentesis. To ensure the safety of the mother, after amniocentesis, it is common to rest quietly for about two hours, either on an outpatient basis or with a one-night hospital stay.

※Chorionic Villus Sampling (CVS)

This procedure is also performed when NIPT shows a positive result or when significant abnormalities are detected during ultrasound examinations. While using ultrasound to guide, chorionic villi are sampled from the placenta.

CVS provides earlier results compared to amniocentesis and is considered more definitive, but it involves higher risks to the mother and requires specialized facilities, which is why amniocentesis is more frequently chosen.

⑥ Explanation of Amniocentesis Results

Got it, the results are typically available within 2 to 4 weeks after the test.

Eligibility for Medical Expense Deductions or Subsidies

Medical Expense Deduction is a system where a portion of taxes can be refunded when significant medical expenses are incurred, such as exceeding ¥100,000 in medical expenses within a year (or exceeding 5% of income for those earning less than ¥2 million). This applies specifically to expenses paid for medical procedures aimed at treatment purposes.

Activities like health check-ups or preventive screenings, which do not involve treatment of a disease, are not eligible for this deduction. NIPT and amniocentesis are diagnostic tests used to detect fetal chromosomal abnormalities and are considered diagnostic procedures rather than treatments, thus they do not qualify for the deduction. Even if a positive result or chromosomal abnormality is detected, these do not lead directly to treatment and are therefore not eligible for deduction under current regulations.

However, expenses such as transportation costs related to clinic visits are eligible for deduction, including those incurred for prenatal diagnosis. Medical insurance covers hospitalization and surgical procedures specifically for treatment purposes.

Therefore, hospitalization for amniocentesis, which is not considered a treatment-related procedure, does not qualify for the deduction. Maternity check-ups may receive partial or full subsidies from local governments, but prenatal diagnosis is categorized differently and does not receive such subsidies.

High-cost medical expense refunds are applicable when monthly medical expenses exceed a certain threshold under health insurance. However, since prenatal diagnosis is not covered by medical insurance, it is also not eligible for these refund programs.

Conclusion

NIPT is generally self-funded, and the decision to undergo the test is entirely voluntary.

Currently, NIPT is not universally available at all healthcare facilities, but due to increasing maternal age and rising demand since its introduction, it is expected that more facilities will offer the test in the future.

Even at accredited facilities, appointments may be limited to specific times or days, and there may be a shortage of facilities in certain regions, making it difficult to schedule within the recommended timeframe. Because of this, some individuals opt for non-accredited facilities to potentially receive the test sooner and at a lower cost. However, some non-accredited facilities may only provide test results via mail without additional follow-up care.

Being non-accredited does not imply illegality. Accredited facilities are required to have both knowledgeable obstetricians and pediatricians on staff, as well as specialized outpatient clinics for genetics. This makes it challenging for private clinics to obtain accreditation, leaving them as non-accredited facilities.

Given the significant waiting times and financial burdens involved, there is hope for an increase in accessible and suitable facilities in terms of both affordability and availability.

References

• Genetech Co., Ltd.
• Department of Obstetrics and Gynecology, Hyogo Medical University Hospital - Guide to Prenatal Diagnosis