The History and Present of Prenatal Testing – Disentangling Eugenic Thought

Close to ten years have passed since I published Fertilized Egg Testing and Prenatal Testing – The Modern History of the Conflict over Their Introduction (Seikatsu Shoin, 2012). In that time we have seen the introduction and spread of NIPT (non-invasive prenatal testing, referred to in the media as “new prenatal testing”)¹ and steady growth in the use of preimplantation genetic testing (PGT) of fertilized eggs.

Today, in the midst of the COVID-19 pandemic, major changes are underway surrounding prenatal testing.

Until now, prenatal testing in Japan has been conducted cautiously against a particular historical backdrop. In the early 1970s when amniocentesis began to be introduced, a movement of people with disabilities, beginning with a group called “Aoishiba no kai,” argued vigorously against prenatal testing and the abortion of fetuses with disabilities that resulted from it as a practice that views people with a disability as “something that should not exist” and strips them of their right to life. In response to the women’s movement which demanded self-determination regarding whether to give birth, it sharply questioned whether selectively aborting fetuses with a disability should be included within the right to self-determination. The women’s movement tried to work out its disagreements with the movement of people with disabilities and sought to engage with it in a joint struggle. At the end of the 1990s, the idea then emerged that it was a woman’s right to choose whether to have a child, but selecting a fetus based on whether or not it had a disability was neither included in nor justified by reproductive rights.

I think the early 1970s movement of people with a disability clearly pointing out that selective abortion based on the results of prenatal testing is discrimination against people with a disability and constitutes eugenic thought in the guise of individual self-determination and the women’s movement having taken up these assertions were very significant developments. Criticism of eugenics from the movement of people with a disability also had a strong influence in the medical sphere, and a cautious attitude was taken towards the development and implementation of prenatal testing as part of standard medical care.

　In the 1990s, when there was a chance that maternal serum marker tests² would rapidly expand on a commercial basis, there was strong opposition from disabled people’s groups, parents’ associations, women’s groups, and some obstetricians. Disabled groups expressed a sense of crisis, arguing that “in the current circumstances in which support systems for people with disabilities are inadequate and discrimination and prejudice are deeply rooted, if all pregnant women are informed of the existence of this testing it will lead to the encouragement of its use and the sifting out of disabled people as a society.” In response, the Welfare Science Committee Evaluation of Advanced Medical Technology Subcommittee “Expert Committee on Prenatal Testing” discussed this issue, and in 1999 issued an extremely restrictive “Opinion regarding Maternal Serum Marker Testing” asserting that “there is no need for doctors to actively inform pregnant women about this testing”

In the 2010s, new tests capable of comprehensively checking for various genetic alterations with a single, small sample emerged, beginning with NIPT. In Japan, from April of 2013 clinical research began based on “Guidelines” set down by the Japanese Society of Obstetrics and Gynecology. These “Guidelines” state that “[testing] becoming widespread may lead to the elimination of fetuses with chromosomal aberrations or the rejection of the life of people with chromosomal aberrations” and therefore “it should be restrictively implemented in facilities capable of adequate genetic counseling” and facilities engaging in this testing must receive inspection/authorization from the Japan Association of Medical Sciences “Facility Authorization/Registration Committee.” In the seven years up to March, 2020, roughly 87,000 people underwent testing, and ninety percent of those given a diagnosis of “having a chromosomal aberration” ultimately chose abortion.

Beginning around the autumn of 2016, clinics that advertised and provided testing over the Internet without receiving authorization appeared, and by 2020 they had increased to outnumber authorized clinics. Doctors at unauthorized clinics are often from other specialties such as cosmetic surgery and dermatology rather than obstetrics, and with inadequate explanations and genetic counseling before and after the testing there are reports of pregnant women experiencing panic after receiving a “positive” test result without proper follow-up from the care provider.

Beginning in October of 2020, the Ministry of Health, Labour and Welfare held discussions in the Welfare Science Committee Evaluation of Advanced Medical Technology Subcommittee “Expert Committee on Prenatal Testing such as NIPT,” and in May of 2021 issued a “Report.” Preparations toward concrete implementation are now underway, but it includes elements that would drastically alter the existing framework of prenatal testing in four respects.

First, the national government’s report included “acceptance of selective abortion.” In the existing Law for the Protection of Mothers’ Bodies, abortion because the fetus has an illness or disability is not allowed. However, the report says that “(when prenatal testing has revealed the possibility that the fetus has a disability) the pregnant woman or her partner may choose abortion as this falls under the stipulation of the Law for the Protection of Mothers’ Bodies permitting abortion when there is a risk of substantial harm to the mother’s health for physical or economic reasons,” and adds that in such cases “it is important that the free will of the pregnant woman and other parties be respected.”

Second, there was a change in the policy of the last twenty years regarding the provision of information about prenatal testing to pregnant women. This policy had followed the 1999 “Opinion” which held that “there is no need for doctors to actively inform pregnant women about prenatal testing,” but in a sharp reversal of this approach the new report states that “the purpose of prenatal testing is to accurately obtain information about the fetus and support the self-determination of the pregnant woman and her partner” and asserts that “as part of comprehensive support for pregnancy, childbirth, and childcare, pregnant women and other parties must be informed of prenatal testing.”

The third major shift was the involvement of the national government. Previously the government had had almost no involvement in implementing and regulating prenatal testing; this had been overseen by the Japan Society of Obstetrics and Gynecology and the Japanese Association of Medical Sciences. This time a new “Operating Committee” to formulate standards for facility authorization and perform authorization, evaluation, and reassessment was established within the Japanese Association of Medical Sciences. This committee is to include participation by relevant departments in the Ministry of Health, Labour and Welfare (which was replaced by the Agency for Children and Families in April 2023) in addition to relevant medical associations such as obstetrics and pediatrics, doctors and nurses groups, professionals in fields of ethics, law, and society, those involved in disability welfare, and patients’ groups. The involvement of the government will have the effect of increasing the weight of facility authorization, but going forward there is also the possibility of prenatal testing being incorporated as part of public health/medical policy.

Fourth, regardless of government involvement, it is difficult to stop the trend toward commercialization of prenatal testing, and on the contrary it may expand. Regarding institutions implementing NIPT, large hospitals capable of providing genetic counseling are to be authorized as testing centers, obstetrics clinics throughout the community will be eligible for authorization if they are affiliated with one of these large hospitals, and this will rapidly increase the number of testing institutions. On the other hand, because effective legal restrictions regarding unauthorized institutions are not included, there are concerns that the implementation of for profit NIPT will increase further.

Also, while there is not enough space to discuss it in detail here, over the last two years the Japan Society of Obstetrics and Gynecology held an “Ethics Council on PGT-M³” and a “Japan Society of Obstetrics and Gynecology Ethics Committee Public Symposium on PGT-A・SR⁴ Clinical Research,” and plans to revise its opinion and detailed regulation regarding preimplantation genetic testing (PGT) to expand its scope of application and increase testing institutions.

There has been no opportunity for people with genetic illnesses or disabilities to participate directly in the discussions of NIPT and PGT held by the national government and the Japan Society of Obstetrics and Gynecology since last year. The “Disentangling Eugenic Thought” ZOOM meetings were thus created as a venue for the expression and consideration of what kind of relationship prenatal testing has to daily life and how it has come to be thought of from the perspective of people with disabilities or people living with a child who has a disability. Part 1, “Let’s Talk About It Together – Prenatal Testing and Preimplantation Testing,” was held on July 31st and drew over a hundred participants. On October 9th, Part 2, “Let’s Talk About It Together – , , and ,” was held to deepen the discussion. Commenting on the event, one participant said, “I think eugenic thought can only be disentangled by sharing other people’s experiences narratively and confronting and giving meaning to one’s own narrative. In that sense it was good.”

Today forced sterilization because of a disability having been a clear infringement of human rights is being addressed as problematic, and lawsuits have been filed seeking state compensation. In light of the combination of eugenic thought and medicine having led to forced sterilization, I would like to reexamine once more the potential for the technology of prenatal testing to foster discrimination and the realization of a eugenic society.

Toshimitsu Keiko (Visiting Researcher, Institute of　Ars Vivendi, Ritsumeikan University)

^*1 Fetal DNA in the pregnant woman’s blood is tested to determine the chance of three kinds of chromosomal aberrations, Down’s syndrome (trisomy 21), trisomy 18, and trisomy 13. It enables testing with quite a high degree of accuracy as early as ten weeks into pregnancy.

^*2 Proteins and hormone levels in the pregnant woman’s blood are tested and the results considered along with the pregnant woman’s age to estimate the probability of the fetus having conditions such as Down’s syndrome.

^*3 Preimplantation testing to avoid becoming pregnant with a child with a monogenetic disease.

^*4 Conducted as part of infertility treatment for patients who are infertile, this testing checks for numerical aberrations in all of the chromosomes of embryos obtained through invitro fertilization with the aim of increasing the chance of avoiding miscarriage.