At age 45, Naoko Chang said she couldn’t have been more surprised to find out she was pregnant with her second child last fall.
But before she could even begin to enjoy her pregnancy, she faced a harsh reality — that given her age, the baby could have some sort of chromosomal abnormality.
Currently living in California, Chang was informed by her doctor of the risks of genetic defects to her baby, including Down syndrome, but was surprised and relieved when told by her doctor about a simple new blood test that could detect with a high level of accuracy several chromosomal abnormalities in fetuses.
The blood test — which detects trisomy 21, 18 and 13, the genetic sources of Down syndrome and other birth defects — was first developed by U.S.-based Sequenom Inc. in 2011. It is currently available in Germany, France and some parts of the U.S.
Expectant mothers nationwide have been anxiously awaiting the test since news about Japan’s plan to make it available for high-risk pregnant women at a limited number of medical facilities made headlines last summer. But the move has triggered much controversy because of its perceived potential to prompt a surge in abortions and discrimination against people with Down syndrome. The new test will be introduced next month.
New guidelines issued by the Japan Society of Obstetrics and Gynecology have been carefully drafted to prevent widespread use of the test. The new rules include limiting patients to those of “advanced age,” generally 35 or older, or those found in earlier exams, including sonograms, to be at risk of carrying babies with chromosomal disorders. Women who have previously given birth to babies with such defects will also have access to the test.
Several medical studies have shown that the risks of having babies with Down syndrome, or trisomy 21, increases with the age of the mother. For example, the possibility of a 25-year-old mother carrying a Down syndrome baby is said to be 1 in 1,041. This rises to 1 in 87 for a 40-year-old.
“I think pregnant women should have the right to know. People are free to decide what is best for them, whether they take the test or not,” Chang said during a recent interview with The Japan Times. “Of course, that means that you have to bear the responsibility yourself regardless of the test results.”
Chang, who has a 4-year-old daughter, said she and her husband both had no problem with her taking the noninvasive test. But looking back, she also expressed the inner turmoil over what decision she might have had to make if the test results had come back positive.
“It is challenging as it is, trying to have a newborn at 45, and if I did find some sort of abnormality, I might have given the baby up this time,” said Chang, whose test ultimately came back negative. “But at the same time, if my husband said he wanted to keep the baby, I don’t know. And I would also probably feel like some sort of a murderer, too. It is a very difficult problem.”
There are several types of prenatal tests that can be taken in Japan to detect Down syndrome and other abnormalities.
Noninvasive tests, such as the sonogram, which is used in regular checkups for pregnant women, and the triple and quad marker blood tests are risk-free but cannot provide an infallible diagnosis, with false positives often a major issue. The only two that can give definite results — chorionic villus sampling or amniocentesis, which both require that long hollow needles be inserted into the uterus — are invasive procedures that can cause miscarriages.
That is why the upcoming test — noninvasive and with a higher accuracy rate — has been heralded by expectant mothers.
While the new test also does not provide a diagnosis, medical experts have described it as an “extremely accurate yet nondefinite test.”
“Honestly speaking, I think this test is wonderful. So many people would be able to avoid taking the invasive amniocentesis,” said Katsuyuki Kinoshita, chairman of the Japan Association of Obstetricians and Gynecologists. “I think that this new test is the start of a good clinical application of genetic diagnosis.”
According to Kinoshita, nationwide private-practice gynecologists who are members of the association have been swamped with desperate calls from pregnant women wanting to sign up for the test.
But the new guidelines revealed earlier this month will only allow limited medical institutions with full-time obstetricians, gynecologists and pediatricians with sufficient knowledge and experience in prenatal diagnosis — especially with trisomy 13, 18 and 21 — to begin clinical studies using the blood test.
This means that virtually no private clinics will be able to introduce the tests.
“We agree that clinical studies should begin in limited facilities for the time being but believe that the doors should be open for other clinics in the future,” Kinoshita said. “In the end, I think the decision is up to the pregnant women. They need to be able to have access to all information before making a decision based on their own responsibility.”
But Kunio Tamai, chairman of the Japan Down Syndrome Society, expressed reservations about the exam, concerned it might be used as a mass-screening test for all pregnant women in the future.
The simple procedure makes it a lot easier for women to take the test, even though they may be forced to make an extremely difficult decision depending on the results, Tamai said.
“I understand that some people need this test, but I want to remind people that this test is not for all,” Tamai said. “We have no intention of saying people should not be allowed to take the test. What we are against is to turn it into a mass-screening test that all pregnant women feel pressured into taking.”
Tamai, who has a son with Down syndrome, also said that discrimination against people with the condition has increased since the new exam, which specifically targets trisomy 21, 18 and 13, was reported. Since then, discriminatory comments have been made, especially on the Internet, against people with Down syndrome, stating that taxpayer money should not be used to support them, Tamai said.
JDSS even took the step of issuing a statement to reassure those with Down syndrome that the condition is nothing to be ashamed of.
As medical technology advances, Tamai said he believes there could come a time when women can find out if the babies they are carrying will develop cancer or be afflicted with depression.
“Right now, it is just the three types of trisomy. But pretty soon, doctors will be able to map out the information of fetuses and various genetic disorders may be identified before birth,” Tamai said. “Where do we draw the line — what sort of abnormality is ‘OK’ to be brought into this world and what isn’t?”
Nanako Oba, head of Life and Birth Studies Association, a public-interest incorporated group that aims to educate people on life and birth, agreed.
Oba said that while hospitals emphasize patients’ rights to make their own decisions, soon-to-be parents should also be warned ahead of time that such test results could end up troubling them more.
“Fear is likely to increase if you take the test and once you get the results, you are immediately faced with the difficult choice of whether to give birth or not,” said Oba, a mother of five.
Like numerous women, Oba has had multiple miscarriages but has never chosen to have any sort of prenatal tests — even when she was pregnant with her last child at 36.
“No one has the right to judge what each person decides is best, but I want to stress that there are many people out there whose lives may be short or have disabilities. But that does not mean they are unhappy,” Oba said. “From the moment you become pregnant, nothing goes as planned and some babies may have stronger characteristics than others. . . . I think that wanting to have children means that you accept them as a whole.”
Chang is well aware that her negative test results don’t necessarily mean her baby will escape serious diseases or other problems after birth. But she said it helped relieve the anxiety of not knowing, adding that she would have wanted to take the test regardless of the outcome.
“The reality is that both my 4-year-old and the baby on the way are both problem-free, only for now,” Chang said. “As they grow older, problems will become more complex, and emotional and social problems will surface as well. I don’t think I will be able to solve everything smoothly but I am hoping to become a parent who can grow and think together with my children.”