12-07-2025
Expert stresses need for genetic counseling amid rising interest in prenatal testing in Japan
OSAKA -- Interest in prenatal testing to check on the condition of the fetus during pregnancy is growing in Japan, but expectant mothers and their families often face the difficult decision of "selecting a life" based on test results, leading to a series of cases of trouble. What exactly is prenatal testing?
Prenatal tests vary in timing, target conditions and accuracy, and are mainly divided into "diagnostic tests" and "screening tests."
Diagnostic tests, such as amniocentesis and chorionic villus sampling, involve inserting a thin needle into the abdomen to check for chromosomal abnormalities. While these tests are considered highly accurate, they carry a risk of miscarriage.
Screening tests, including ultrasound, pose no miscarriage risk. Recently, noninvasive prenatal genetic testing (NIPT), which estimates chromosomal abnormalities from a pregnant woman's blood, has gained popularity for being "safe and highly accurate."
However, neither diagnostic nor screening tests can detect all conditions. There can be errors in test results, and other conditions may be discovered after birth.
Originally, prenatal testing aimed to identify children's diseases early to facilitate appropriate care and medical intervention. However, in reality, it often forces expectant mothers to decide whether to continue the pregnancy, raising ethical concerns. NIPT, in particular, has sparked debate.
According to guidelines from the Japanese Association of Medical Sciences, NIPT is limited to testing for Down syndrome, Patau syndrome and Edwards syndrome at certified facilities. Yet these guidelines are merely self-regulation by the association, and uncertified facilities offering NIPT for profit are rapidly increasing. In some cases, insufficient counseling leads to decisions, including abortion, without a definitive diagnosis.
Japan lacks a registration system for prenatal testing, leaving the number of tests and facilities unknown. Some disputes over testing have led to lawsuits, with cases where clinics were ordered to pay compensation for conveying incorrect test results.
Need for genetic counseling
Dr. Mari Matsuo of Tokyo Women's Medical University, an expert in prenatal testing, believes that "a lack of communication between doctors and pregnant women may be behind the trouble."
Matsuo advocates for "genetic counseling," where clinical geneticists and other experts provide information about prenatal testing and its implications, supporting pregnant women in their decision-making.
"The importance of genetic counseling is not yet commonly recognized, and there are inconsistencies among medical facilities. It is essential for medical facilities to carefully listen to the reasons behind a woman's decision to undergo testing and build a system that supports the anxieties of expectant mothers," she said.
