By Akihiko Kano and Yohei Takei / Yomiuri Shimbun Staff WritersThe Japan Society of Obstetrics and Gynecology (JSOG) plans to expand the scope of new prenatal tests (see below) that screen for chromosomal disorders such as Down syndrome in a fetus using a blood sample from a pregnant mother. The study has been carried out as a clinical study at a limited number of institutions, such as university hospitals, but JSOG is planning to provide such screenings for regular medical services. An increase in the number of disorders screened for, and the removal of age restrictions will also be mulled step by step. As might be expected from tests whose results may result in terminated pregnancies, it seems certain to ignite public debate.
Ominous notice in the mail
“Please help me!”
This month, a pregnant woman in her early 30s rushed into Jikei University Hospital in Tokyo on the verge of tears with the results from a new prenatal test that she had undergone at a clinic.
In Japan, such tests that are certified are conducted based on JSOG guidelines, which require careful implementation. Under the guidelines, examinations must be carried out at facilities authorized by the Japanese Association of Medical Sciences, and “genetic counseling,” which assists couples making independent decisions relating to genetic disorders, is required both before and after testing.
However, the facility where this woman underwent testing was not certified, there was no genetic counseling and the results of the test were simply mailed to her. The letter that arrived stated, “Although the results did not give a clear indication as to whether it is positive, some chromosomal abnormality is suspected.” It recommended having a sample of amniotic fluid taken through a needle for further testing.
Osamu Samura, an associate professor at Jikei University School of Medicine, was on hand to help the woman when she appeared. Speaking about the incident, he said: “Without genetic counseling, it is natural for expectant mothers to become confused. Initial concerns have manifested themselves as reality.”
The existence of such uncertified facilities was one of the factors that led to JSOG’s plan to increase the number of facilities offering prenatal tests. At locations other than the 89 certified facilities, tests are also being carried out on women under the age of 35 because there are pregnant women who want examinations but are not eligible for them under the existing guidelines. Though the practice is not illegal, it goes against JSOG’s guidelines. The Health, Labor and Welfare Ministry is taking a wait-and-see approach. Prof. Akihiko Sekizawa of Showa University in Tokyo said: “There are limits to the current system. We need to put in place a system that allows for examinations with well-regulated counseling across a broader spectrum.”
The plans drawn up by JSOG will relax certification conditions relating to the appointment of genetic counselors, such as requiring them to be clinical genetic specialists. There are only about 1,500 such specialists nationwide. A promising plan is to, instead, accept obstetricians and gynecologists who have received training in genetic counseling.
It is thought that the number of people who could receive training is around 200, according to a JSOG official, so the number of eligible facilities could potentially increase to about 300.
There were five academic associations involved in the clinical study, but some academic societies are cautious about a rapid expansion of screenings.
Yoshimitsu Fukushima, a specially appointed professor at Shinshu University and an inspector of the Japan Society of Human Genetics, has a negative stance toward expansion. “The certification conditions are in place to ensure an adequate level of genetic counseling. I do not think that the conditions should be changed,” he said.
Testing those under 35
JSOG plans to gradually loosen age restrictions and expand the number of disorders screened for. Originally, there was believed to be a decrease in accuracy when testing younger expectant mothers, so the tests were restricted to women 35 or older. However, recent U.S. studies have proved that the tests are no less accurate under the age of 35. Pregnant women who are not able to take prenatal tests due to their age are compelled to take other, less accurate tests, so people in JSOG contend that there is no reason to maintain the age restriction.
According to the health ministry, out of the about 970,000 babies born in 2016, the number born to mothers under 35 was about 700,000, or more than 70 percent. Elimination of the age restriction would thus triple the number of eligible women.
As for the number of disorders to screen for, prenatal tests in Europe and the United States already screen for a wider range, including sex chromosome disorders.
If the eligible age and range of disorders tested for are expanded, prenatal tests will come closer to being a routine test open to all expectant mothers. However, in the 4½ years since testing began, over 90 percent of the women whose results positively detected abnormalities chose to terminate their pregnancies. This figure can be said to suggest that the majority of the women judged that they wouldn’t be able to securely raise children with disabilities. While respecting the independent decision of expectant mothers who undergo prenatal testing, what is required in order to create a society that accommodates all, even those with disabilities? Discussions on the matter are needed.
Tetsuya Ishii, a professor of bioethics at Hokkaido University, believes that if testing is going to make the transition from the trial stage into general practice, “We should set up public symposiums and other forums for discussions to ask people extensively about past results and the issues that have become apparent, and only proceed after having heard various opinions.”
92% with Down syndrome ‘feel happy’
Down syndrome is one of the disorders screened for in a new prenatal test, and in recent years, people with Down syndrome and their supporters have been involved in various efforts to show that they live happily even with the disorder.
One in 700 people is said to be born with Down syndrome, which is often accompanied by delays in intellectual development. However, in recent years, people with Down syndrome are seen flourishing in society as television personalities and calligraphers have also emerged.
At a gymnasium in Yokohama on the evening of Jan. 26, the dance group “Love Junx,” whose members have Down syndrome, were dancing to songs by AKB48. The group has around 700 members active in three locations across the nation, and they even released their first CD in autumn last year.
A second-year middle school student in Kawasaki who has been dancing for six years said, “I really enjoy dancing with my friends.”
His father said, “He used to be frail, but now he has become so strong.”
An investigation carried out by a research group from the Health, Labor and Welfare Ministry has found that 92 percent of people with Down syndrome feel happy.
On the other hand, the same investigation found that the annual income for 60 percent of the respondents was ¥300,000 or less. The investigation established that employment was one of the biggest challenges, with over one-third citing low wages as one of the difficulties they suffered at work, which in turn lowered the satisfaction they felt toward work.
Hidehiko Miyake, a doctor of obstetrics and gynecology and professor of clinical genetics at Ochanomizu University, who compiled the investigative report, said: “In recent years, the recognition that people with Down syndrome are not especially different has been spreading. We need to build the foundations that cherish diversity in order to protect the rights and happiness of both pregnant women and children.”
■ The new prenatal test
A blood sample taken from a woman who is 10 to 22 weeks pregnant is used to determine the likelihood that the fetus she is carrying has any of three disorders, including Down syndrome. The probability of fetuses having such disorders increases with a woman’s age. If the results are negative, there is a 99 percent chance that the child will be free of the disorders. If the results are positive, the findings must be confirmed by testing a sample of amniotic fluid.
In current clinical studies, pregnant women must meet at least one of three eligibility criteria: being 35 or older, having been pregnant with a child with a chromosomal abnormality in the past, or having had an ultrasound or other examination that identified a suspected disease in the fetus.Speech