What should we do now that the number of "licensed" NIPT facilities has not been expanded?
In June 2019, the Japanese Society of Obstetrics and Gynecology provided guidelines for expanding testing for new prenatal diagnosis.
In this article, we will explain the process and reasons for not expanding the number of facilities where the new prenatal diagnosis tests can be performed, and how pregnant women, the recipients of the tests, should deal with the situation in the future.
Table of Contents
- What are the new guidelines for new prenatal diagnosis?
- What is the opinion of pregnant women about the proposed revision of NIPT facilities?
- Start of operation of new guidelines put on hold.
- What is the future of the new prenatal diagnosis guidelines?
- What should a pregnant woman undergoing a new prenatal diagnosis do?
What are the new guidelines for new prenatal diagnosis?
The Japan Society of Obstetrics and Gynecology has issued new guidelines for prenatal genetic testing (NIPT) using maternal blood in June 2019. *1The new guidelines are designed to ensure that pregnant women who need to undergo testing can receive appropriate testing fairly and without anxiety. The new guidelines also include the following: NIPT testing is now available at facilities with obstetricians and gynecologists who have received training in prenatal diagnosis, etc.
Why were the new guidelines issued?
So why were the new guidelines issued at that time? The reasons include the increasing number of pregnant women undergoing testing and the fact that testing is now being conducted at facilities other than licensed facilities. 2013 saw the start of new prenatal diagnosis testing in Japan, and the number of licensed facilities has increased from 15 initially to 92 (as of July 30, 2016). Since the start of *2 testing, a system has gradually been put in place for pregnant women to receive the test with peace of mind, and prenatal counseling has been provided along with the test for pregnant women who need it. NIPT testing was performed on 48,643 of them. *1Nowadays, many pregnant women undergo testing at non-licensed medical facilities. *3 Under these circumstances, the number of elderly pregnant women is increasing, pregnant women who need testing may have difficulty accessing licensed facilities due to geographical problems, and adequate prenatal counseling is required more than ever before.
What new guidelines were they?
The new guidelines of the Japan Society of Obstetrics and Gynecology further emphasize the necessity of prenatal counseling for pregnant women and their families who are considering the new prenatal diagnosis test and the importance of a system to support decision-making. Furthermore, the guidelines do not change the stance that the test should not be conducted as "mass screening for a large number of unspecified pregnant women," but rather should be conducted with caution based on a careful assessment of the various circumstances of each individual patient. On the other hand, it is "undesirable" to reduce the anxiety of the increasing number of elderly pregnant women and to make it difficult for pregnant women to undergo testing due to the limited number of approved facilities, depending on the area where they live, their jobs, and other factors. *1
Establishment of core facilities and affiliated facilities with adequate requirements
The new guidelines expand the number of facilities so that testing can be performed at a "core facility" and its "affiliated facilities" that meet the requirements. In addition, the guidelines stipulate that post-test prenatal counseling, follow-up examinations and observations, and whether or not pregnancy should be interrupted, as well as the procedures to be taken, should be conducted at the core facility. However, when it is difficult for pregnant women to go to the core facility due to the region where they live, we have written a flexible policy so that prenatal counseling related to the interpretation of test results can be provided at the collaborating facility. The conditions for being a core facility and a collaborating facility also stipulate the assignment of an obstetrician/gynecologist, pediatrician, genetic counselor, and nurse specialist in genetic nursing with extensive knowledge and experience in prenatal diagnosis and treatment. What the New Guideline PredictsThe proposal outlined in the new guideline has the advantage of making it easier for pregnant women to undergo prenatal diagnosis testing. The new guidelines will make it easier for pregnant women to undergo prenatal testing by increasing the number of facilities that can perform the test, even if they have had difficulty obtaining the test in the past because there are no licensed facilities in their area. However, there is a concern that the increased accessibility may lead to an increase in the number of pregnant women who choose to terminate their pregnancies depending on the test results.
What is the opinion of pregnant women about the proposed revision of NIPT facilities?
The new guidelines have received a wide range of opinions. The Japanese Society of Obstetrics and Gynecology conducted a web survey of "Baby App" users in March 2019. (6,859 responses) There, many positive responses were received for NIPT and the proposed guideline revisions. Nearly 90% of the respondents were positive about NIPT in Japan, and about 80% said they would consult an "obstetrician/gynecologist" when undergoing the test. Furthermore, more than 80% of respondents are positive about increasing the number of facilities where NIPT is performed, and about 70% are in favor of the proposed revision by the Japan Society of Obstetrics and Gynecology, while only 5% are opposed.
Start of operation of new guidelines put on hold.
Although many pregnant women had positive opinions about the new guidelines, the implementation of the new guidelines was put on hold due to a written request from the Maternal and Child Health Division of the MHLW and the lack of agreement from other related academic societies. *5 *6We will now wait and see what the Ministry of Health, Labor and Welfare (MHLW) will do in the future. Therefore, until the new guidelines are put into effect, it is recommended that inspections be conducted in accordance with the existing guidelines. *7
What is the future of the new prenatal diagnosis guidelines?
While the new guidelines will expand the number of facilities where testing is available and make it easier for pregnant women to receive testing, the possibility of inadequate prenatal counseling and other concerns have been raised by other academic societies, and it is thought that the government has responded first to avoid creating confusion and anxiety among these pregnant women. Even though we do not know what the new guidelines will be in the future, it is still desirable to have an inspection system that is in line with the existing guidelines. However, there is a greater need for a system that does not impair the opportunity for pregnant women who really need to be tested to receive the test equally, and for an environment that provides adequate support.
What should a pregnant woman undergoing a new prenatal diagnosis do?
In a situation where it is not known when the new guidelines will become operational, it is basically advisable for pregnant women to undergo testing in accordance with the existing guidelines. As the new guidelines also point out, when undergoing testing, it will be necessary to continue to recognize the importance of receiving adequate explanations before and after the test and prenatal counseling when necessary. It is important to understand well in advance why the NIPT test is necessary for you and how you and your spouse will think about the test results. Furthermore, if the test is positive, it is also essential to know and learn about the treatment for the fetus and the future and social support system for children with disabilities. However, there is a limit to the amount of medical information that a couple can research and understand on their own. Before and after undergoing testing, they should consider testing at a facility that has an environment and testing system where they can obtain correct information. All pregnant women undergoing testing, whether at licensed facilities or other facilities, should be fully aware of the significance of the test and interpretation of the results, as well as the need to receive appropriate prenatal counseling. The postponement of the implementation of the new guidelines may be seen as an opportunity for pregnant women to reaffirm the importance of such preparedness.
Women who wish to conceive in the future need to keep a close eye on national trends, including guidelines for NIPT testing. If the new guidelines become effective in the future, the circumstances under which women undergo testing may change significantly. Regardless of whether the existing guidelines remain the same or are replaced by new guidelines, we recommend that the first priority is to ensure the safety and security of pregnant women who undergo testing.
- The Japanese Society of Obstetrics and Gynecology - Guidelines for Prenatal Genetic Testing Using Maternal Blood (NIPT)
- Committee to Study "Genes, Health, and Society" - New Prenatal Genetic Testing Using Maternal Blood List of Clinical Research Facilities
- The Japan Society of Obstetrics and Gynecology - Public Comment on Proposed Revisions to NIPT (New Prenatal Diagnosis) Practice Facilities Result Summary Report, March 25, 2019
- 厚生労働省 子ども家庭局母子保健課長 - Response to Prenatal Genetic Testing Using Maternal Blood (NIPT) June 21, 2027