Is the expansion of NIPT (Non-Invasive Prenatal Testing) facilities being postponed for the time being?

Discussion on the State of NIPT Implementation Facilities

NIPT (Non-Invasive Prenatal Testing) is a common test in the United States. With the increase in late pregnancies, the number of pregnant women undergoing NIPT in Japan has also been increasing year by year.

The Japan Society of Obstetrics and Gynecology has set conditions such as limiting NIPT to those aged 35 and over and only allowing certified facilities to conduct NIPT. However, with the growing demand for NIPT, unauthorized facilities that allow testing for those under 35 are increasing.

Citing the need for discussions on the state of NIPT implementation facilities by the Ministry of Health, Labour and Welfare's review committee, the Japan Society of Obstetrics and Gynecology held a board meeting on June 22, 2019, and decided to postpone the implementation of new guidelines aimed at expanding NIPT facilities.

Previously, amniocentesis was perceived as a test for older mothers or those suspected of fetal genetic abnormalities such as Down syndrome, but amniocentesis carries some risk for both the mother and the fetus. NIPT, on the other hand, only requires examining the pregnant woman's blood to detect chromosomal abnormalities such as trisomies 13, 18, and 21, thereby minimizing the risk to both the mother and the fetus.

Of course, NIPT is not a definitive diagnosis, so if NIPT results are positive, amniocentesis, which is a definitive diagnostic test, will be conducted. However, the existence of a test that can be performed before amniocentesis may be significant both physically and mentally.

Current Status of Authorized and Unauthorized Facilities

While a negative NIPT result might provide peace of mind for the pregnancy, a positive result often leads to cases of pregnancy termination. This potential for selective termination is a significant concern regarding the use of NIPT itself.

This concern is a major reason why the Japan Society of Obstetrics and Gynecology only recognizes certified facilities for NIPT. However, certified facilities are perceived as having higher costs and age restrictions compared to unauthorized facilities, making them less accessible.

Currently, even unauthorized facilities are increasing in number and offer a range of comprehensive services. These include support for amniocentesis, counseling by genetic counselors, and the ability to test for all chromosomes.

Future of NIPT

As the number of unauthorized facilities increases, competition among these facilities could lead to improvements in cost, technology, and overall quality, thus better meeting consumer needs. This could make NIPT a more accessible and routine test, recognized as a standard procedure.

As time progresses, people, medical practices, and technology continue to evolve. There is hope that NIPT will undergo positive changes in the future.

On the 22nd, the Japan Society of Obstetrics and Gynecology decided at its board meeting to postpone the implementation of new guidelines aimed at expanding NIPT facilities. This decision was made due to the need for discussions on the state of NIPT implementation by the Ministry of Health, Labour and Welfare's review committee.

The new guidelines would allow smaller clinics to conduct NIPT if certain conditions are met. However, these guidelines faced opposition from the Japan Pediatric Society and the Japan Society of Human Genetics. Additionally, the increasing number of private clinics offering NIPT without following the guidelines has led the Ministry of Health, Labour and Welfare to conclude that a national response is necessary to avoid confusion.

There are concerns that NIPT results could lead to selective termination of pregnancies, which raises ethical issues. Consequently, the Japan Medical Association has limited NIPT to approximately 90 certified facilities across the country, which conduct the tests in accordance with the rules set by the Japan Society of Obstetrics and Gynecology. Despite this, the number of private clinics conducting the tests without adhering to these rules is increasing. In response, the Japan Society of Obstetrics and Gynecology proposed new guidelines in March, allowing smaller clinics with trained obstetricians to conduct the tests in an appropriate manner.

Although these new guidelines were officially approved at the board meeting on the 22nd, their implementation has been frozen until national discussions are concluded. The approximately 90 certified facilities currently recognized will continue to conduct the tests.

The Ministry of Health, Labour and Welfare informed the society of its plan to establish a review committee on the 21st.

New Prenatal Testing: This test involves taking a blood sample from a pregnant woman after the 10th week of pregnancy to analyze fragments of fetal DNA for three types of chromosomal abnormalities, including Down syndrome. A positive result requires confirmation through amniocentesis. NIPT has been conducted in Japan as a clinical study since 2013. By September of last year, approximately 65,000 women had undergone the test, with chromosomal abnormalities confirmed in 886 cases.