Is NIPT testing the same everywhere? How to choose a hospital or facility

From 2013, NIPT (Non-Invasive Prenatal Testing), which began to be tested in Japan, has seen an increasing number of tests conducted each year. For instance, the number of tests conducted in fiscal year 2013 was about 8,000, whereas in fiscal year 2016, it was approximately 13,000, showing a steady increase annually.

The number of hospitals and facilities offering these tests has also been increasing, and it is likely to continue growing with rising demand in the future.

However, with the increasing number of hospitals and facilities, it can be confusing to decide where to go for the test.

Everyone wants to avoid regretting such an important test, which can potentially change the future.

How should one go about finding the right place for the test?

Why Choose Hospitals and Facilities

You might think, "Since it's the same NIPT test, it should be the same everywhere," but hospitals and facilities differ in their support and features.

The most straightforward difference is the test cost. Even for the same NIPT test, prices can vary widely, ranging from around 80,000 to 100,000 yen depending on the hospital.

Of course, there are reasons behind these price differences, but looking solely at the numbers might raise questions about the variations in costs.

Furthermore, there are differences in support among hospitals. Some facilities lack specialized clinical geneticists, and there are stories of unfriendly genetic counseling experiences.

This doesn't mean that all facilities are inadequate, but it's important to choose a hospital or facility where you feel comfortable. They should explain things clearly when they are hard to understand and provide supportive counseling if the test result is positive. It's crucial to select a hospital or facility where you feel reassured and supported.

Licensed and Unlicensed Facilities

There are facilities where NIPT testing can be performed, categorized into accredited and non-accredited facilities.

Accredited facilities are those approved by the Japan Society of Obstetrics and Gynecology for NIPT testing, whereas non-accredited facilities operate outside of this approval framework.

One characteristic of non-accredited facilities is fewer restrictions for conducting the test. In accredited facilities, certain conditions must be met to perform NIPT:

1. Positive results for chromosomal abnormalities in fetal ultrasound examinations
2. Positive results for chromosomal abnormalities in maternal serum marker tests
3. Previously having given birth to a child with chromosomal abnormalities
4. Balanced Robertsonian translocation in parents, indicating a potential genetic risk for chromosomal abnormalities

However, non-accredited clinics not bound by the Japan Society of Obstetrics and Gynecology's approval framework do not require adherence to these conditions, allowing all pregnant women wishing to undergo NIPT testing to do so.

Another characteristic is lower testing fees. The discrepancies in fees mentioned earlier primarily stem from the differences between accredited and non-accredited facilities.

While non-accredited facilities offer convenience, they may exclusively perform NIPT testing. In the event of a positive NIPT result, one might need to independently arrange definitive diagnostic procedures like amniocentesis.

Certainly, some facilities offer hospital referrals or subsidies for amniocentesis, but compared to accredited facilities where support for procedures like amniocentesis is readily available in case of a positive result, the process can be more cumbersome.

The Japan Society of Obstetrics and Gynecology recommends testing at accredited facilities to avoid potential delays in response during critical situations when a series of tests is not conducted at the same facility.

In general terms, accredited facilities provide comprehensive support, while non-accredited facilities offer easier access and lower costs for testing. These considerations can serve as guidelines when making a choice.

Different Testing Items by Facility

The types of tests available differ between accredited and non-accredited facilities.

Accredited facilities can only perform testing for Trisomies 13, 18, and 21. In contrast, non-accredited facilities can conduct additional tests beyond Trisomies 13, 18, and 21, such as microdeletion testing and whole chromosome screening, offering more extensive options than accredited facilities.

This difference arises because the testing protocols are determined by guidelines from the Japan Society of Obstetrics and Gynecology. Accredited facilities operate within these guidelines and cannot conduct tests outside of them.

Non-accredited facilities, however, can offer tests beyond NIPT, such as whole chromosome screening, based on user preferences. Many of these facilities utilize testing services from overseas companies, which do not necessarily adhere to the Japan Society of Obstetrics and Gynecology's guidelines.

In addition to Trisomies 13, 18, and 21, other chromosomal abnormalities include conditions like Klinefelter syndrome and Turner syndrome due to sex chromosome abnormalities, as well as reciprocal translocations and Robertsonian translocations caused by chromosomal rearrangements.

While the occurrence of these other chromosomal abnormalities is lower than Trisomies 13, 18, and 21, they are still significant and should not be disregarded.

If confirmation of abnormalities beyond Trisomies 13, 18, and 21 is desired, it is advisable to seek testing at a non-accredited facility.

Choosing Hospitals and Facilities

The following is an overview of how to choose a hospital or facility. This is only an example, but we hope you will find it helpful in making your choice.

Response to Positive Results

The most crucial aspect of NIPT testing is how it addresses a positive result.

If the result is positive, it is necessary to undergo amniocentesis for a definitive diagnosis. In such a situation, learning of a positive result can lead to anxiety and uncertainty about what to do next. There may be indecision about whether to proceed with termination, causing significant emotional distress.

During such times, accredited facilities are equipped to provide support and guidance. They not only offer genetic counseling but also assist with arrangements for amniocentesis or termination procedures, addressing uncertainties and providing support.

In non-accredited facilities where preparation for procedures like amniocentesis or specialized clinical geneticists may not be available, you would need to search for suitable hospitals or handle everything yourself.

While a negative result alleviates concerns, it's essential to choose a facility that offers comprehensive support, including amniocentesis and genetic counseling, in case of a positive result.

Reviews

Even if a facility is touted as having excellent support, you won't truly understand until you experience it firsthand. Exaggerations are common, and experiences can often differ from expectations.

To avoid such situations, thorough research beforehand is crucial. Many reviews are based on personal experiences, providing detailed insights into the actual experience, the atmosphere of the facility, and the demeanor of the doctors. This information can be invaluable when making a choice.

Choose a facility with numerous high-quality reviews that demonstrate trust and reliability.

However, it's important to note that not all reviews are entirely accurate. People's perceptions vary, so you may encounter instances where your experience differs from the reviews.

Different doctors can also lead to varied assessments, so consider reviews as indicative rather than definitive.

Cost

NIPT testing costs vary significantly between facilities. Some places offer the test for around 90,000 yen, while others exceed 200,000 yen.

Pregnancy involves various expenses, and it's important to save for postpartum needs as well. When it comes to NIPT testing, most people naturally prefer to find a facility that offers the test at a lower cost, as long as it's the same NIPT test.

Considering cost is the most straightforward comparison point, so it might be a good starting point to evaluate.

However, opting for a facility solely because of lower costs may sometimes mean sacrificing genetic counseling or support in case of a positive result.

Rather than choosing solely based on cost, it's advisable to verify the details and services offered by each facility before making a decision.

Convenience

No matter how highly recommended a facility is based on reviews, difficulty in commuting can make it inconvenient for visits. Long travel times impose significant strain on pregnant women and can even lead to discomfort along the way.

Locations that are far from train stations or take over an hour by car are generally not recommended.

Unless there's a compelling reason otherwise, it's advisable to choose a facility that is close to a train station and accessible locally.

Differences Due to Testing Companies

The differences in NIPT testing extend beyond hospitals and facilities to the testing companies themselves.

In many cases, instead of testing samples in the facility where NIPT is conducted, samples are outsourced to companies like Verinata Health in the United States.

Just as hospitals vary in quality, so do testing companies. While it may sound blunt, the accuracy of the test can vary depending on the testing company. Lower accuracy can lead to false positive results, where a test indicates a positive result when the actual condition is negative, potentially necessitating an invasive procedure like amniocentesis for confirmation.

Amniocentesis is a test with a reported miscarriage risk of 0.3%. This means there is a 0.3% chance of miscarriage, which makes it a test one would want to avoid if unnecessary. Higher testing accuracy can reduce the need for amniocentesis and lower the risk of miscarriage.

Additionally, outsourcing the testing means different turnaround times for results. While Verinata Health is a reputable company, shipping samples overseas can take time. In contrast, domestic testing companies may offer quicker results due to shorter transportation times. Differences of nearly a week in result delivery times can occur between different testing companies.

Unlike hospitals and facilities, testing companies often do not publicly disclose their information, making it challenging to gather information beforehand. Therefore, relying on reviews, referrals, or information from websites is common.

While there are no testing companies that are categorically "should be avoided at all costs" or "untrustworthy," researching information about the testing company can provide some assurance of a negative result.

NIPT Begins with Your Choices

Not all NIPT testing facilities are the same. The support and services they provide can vary significantly, so it's important to choose one that suits your needs.

Some individuals who have undergone NIPT testing have regretted their decision due to insufficient explanations or support.

Rather than thinking "anywhere is fine," take the time to research thoroughly and ensure you undergo NIPT testing without any regrets.

References

• Ministry of Health, Labour and Welfare - Ministry of Health, Labour and Welfare NIPT: noninvasive prenatal testing
• Reference for taking the NIPT test
• The Japanese Society of Obstetrics and Gynecology Guidelines for New Prenatal Genetic Testing Using Maternal Blood
• GeneTech Corporation - GeneTech, Inc. What are the considerations in amniotic fluid testing?