TOKYO -- The Japanese government has decided to improve the provision of information on noninvasive prenatal genetic testing (NIPT), which examines pregnant women's blood to determine the risk of chromosomal abnormalities in fetuses.
The decision has come about due to factors including births at advanced maternal ages driving up need for testing, but concern is growing among people with Down syndrome and their families that depending on how the information is conveyed, it could lead to "selection of life" practices and perpetuate prejudice.
"I hope that medical professionals and others around those (who have tested positive) will not impose their values on involved parties, but instead support them in their choice to give birth or not," said Yukiko Yamagami, 40, a company employee in Saitama Prefecture raising her eldest daughter Nana, 4, who has Down syndrome.
Nana was the first child Yamagami conceived after receiving fertility treatment. She did not undergo NIPT, but an amniotic fluid test diagnosed Nana with Down syndrome. At the time, Yamagami and her husband agonized over whether to keep the fetus because they could not foresee how their daughter would grow up. Yamagami was 18 weeks pregnant, and had only three weeks to decide.
She visited families raising children with Down syndrome and went to her local city hall to ask about support systems. By getting a clear image of what her life would be like after giving birth, Yamagami's vague, negative impression of Down syndrome changed, and she decided to go through with the pregnancy.
However, when she told her obstetrician-gynecologist that she wanted to give birth, they explained that most pregnant women carrying fetuses found to have disabilities choose abortion. She recalled, "It was frustrating to be spoken to in a way that made me feel like it was only natural not to have the child." Since her birth, Nana has grown steadily, and Yamagami says she wants as many people as possible to know that these children live healthy lives.
At the same time, looking back on the time when she was forced to choose whether to have Nana, Yamagami said, "No matter what my decision, I wanted (my doctor) to support me until the end. My judgment as a parent could easily be swayed by my environment or things said around me. If I hadn't been able to meet people with Down syndrome, I might have given up."
NIPT was introduced in Japan in 2013. It analyzes a fetus's DNA in the blood of their pregnant mother, and estimates the presence of three diseases: trisomy 21 (Down syndrome), trisomy 13, and trisomy 18 -- in which the fetus has an additional chromosome. The test costs around 200,000 yen (about $1,820).
The Japan Society of Obstetrics and Gynecology (JSOG) enforces strict guidelines on introducing NIPT, including requiring that facilities be able to provide counseling to support expectant mothers' decision-making.
The test has been implemented largely for pregnant women aged 35 or older. But the guidelines are only self-imposed by the JSOG, and there has since been a rapid increase in uncertified facilities conducting tests commercially without following guidelines.
In May, a Ministry of Health, Labor and Welfare expert committee formulated a report on government involvement in the examination and certification of facilities. A major point of contention in discussions was how to provide prenatal testing information.
The health ministry has so far left prenatal testing including NIPT up to the JSOG's judgment, and taken the position that "there is no need to actively convey information on the tests" due to concerns they could be used as a method to mass-screen fetal diseases and result in "selection of life" practices.
But because factors including childbirth at advanced maternal ages have fueled need for prenatal testing, the new system encourages providing information on prenatal testing, including NIPT, to women in the early stages of pregnancy. The national government and other organizations will disseminate information via their websites, and local governments will distribute leaflets on the tests and promote consultation services as needed.
In response, the Japan Down Syndrome Society (JDS) -- a group of patients and their families -- has called for a cautious approach, saying that depending on how information is conveyed, "there is an unavoidable concern that it will spread false understanding that (Down syndrome) is a disability requiring testing and a choice whether to give birth."
Based on her experience, Yamagami believes a system providing pregnant women with correct information is essential: "I would like the national government to launch the new system only after it makes it easier for pregnant women to receive support from counselors and others before and after testing. If only the implementation of the test goes forward preceded (by information provisions), pregnant women's wishes may be ignored."
Behind the concerns of people with connections to the disease is a sense that societal understanding of diseases covered by NIPT, such as Down syndrome, is not sufficient. According to the NIPT Consortium comprising facilities certified under the current system, of the 1,385 pregnant women whose fetuses were confirmed to have a chromosomal abnormality as of March 2020, 1,083 -- about 80% -- chose abortion.
Why are so many couples forced to give up having a child? Director of the JDS Hiroshi Tamai, whose 24-year-old daughter has Down syndrome, said, "A negative image of Down syndrome is prevalent, and tests are adding to that anxiety."
Dr. Hirofumi Ohashi, head of the department of genetics at Saitama Children's Medical Center, said, "Medical institutions are biased toward explaining the condition and complications of the disease; they do not sufficiently convey information about support after a child with a disability is born."
The center is making efforts to support parents raising children with various congenital diseases. One initiative is its "outpatient group meetings," where parents can meet and talk about child-rearing problems. Dietitians and clinical psychologists also participate, and they provide health support and information on welfare systems.
One of the attendees is a 41-year-old company employee from Koshigaya, Saitama Prefecture; her eldest son, 2, has Down syndrome. She said that going to the outpatient group meeting after giving birth made her more positive: "I hope that with the spread of this kind of initiative, prenatal testing will not be a way to determine whether to have a baby, but rather a test to prepare for a child's birth."
Taichi Kishimoto, 36, a Tokyo resident whose 9-year-old daughter Misaki has trisomy 18, said, "If NIPT is based on the image that their birth is an unhappy event, then that's a big mistake."
Trisomy 18 is associated with intellectual disabilities and heart disease, and those who have it are generally considered to have a short life expectancy. But as with Down syndrome, development of symptoms varies by person. Team 18, a group of families headed by Kishimoto, has held photo exhibitions of their daily lives with their children in 28 prefectures, and provided consultations to affected people.
"I want people to know that even if the time we have together is short, each family has its own shape and happiness," Kishimoto said.
According to Dr. Ohashi, in a year 2000 survey of about 70 outpatient group meeting participants, more than 80% answered that "abortion encouraged by external pressure (in society) is possible."
Ohashi said, "As long as information about the tests is widely publicized, it is essential that sufficient care is taken to prevent false messages unknowingly permeating society. We urgently need to create a system where the diverse choices of pregnant women and their partners are accepted by society and the people around them, and given the necessary support."
(Japanese original by Ayumu Iwasaki, Science & Environment News Department)