What to do if you're worried about prenatal diagnosis results? The necessity of genetic counseling

Prenatal diagnosis is one of the tests conducted during pregnancy to examine the health status of the baby in the womb. Specifically, it checks for any abnormalities in the number of chromosomes in the baby.

What is Prenatal Diagnosis?

Prenatal diagnosis is one of the tests conducted during pregnancy to examine the health status of the baby in the womb. Specifically, it checks for any abnormalities in the number of chromosomes in the baby. Historically, prenatal diagnosis involved invasive procedures such as amniocentesis, which involved inserting a needle into the abdomen to examine the amniotic fluid, causing discomfort for both the mother and the fetus.

In recent years, a widely adopted method in Japan is Non-Invasive Prenatal Testing (NIPT). NIPT can be performed early in pregnancy with just a blood sample.

However, it's important to note that when disabilities are detected in the test results, some individuals opt for pregnancy termination.

Confirmation Diagnosis Required for Positive Prenatal Diagnosis

The results of NIPT testing can be either "negative" or "positive." When there is a possibility of chromosomal abnormalities in the baby, the test result is positive. Since NIPT is a screening test, if the result is positive, it is necessary to undergo confirmatory tests such as amniocentesis or chorionic villus sampling to confirm the diagnosis.

Benefits of Positive Prenatal Diagnosis

Even if a positive result is obtained through NIPT, treatment cannot be administered during pregnancy, but knowing about the baby's disability has several benefits:

Preparation for a Baby with Disabilities
Knowing about chromosomal abnormalities in advance allows for gathering information and making preparations for childbirth and subsequent childcare.

Consideration of Appropriate Childbirth Methods
By understanding disabilities in advance through NIPT, appropriate childbirth methods can be chosen based on the baby's condition. Additionally, postnatal care can be administered smoothly.

Possibility of Regret Even When Wishing to Give Birth
Even among those who wish to give birth to the baby despite knowing about disabilities, some may regret undergoing NIPT. This is because they may feel shocked or anxious about the baby's disabilities.

During pregnancy, hormonal changes can make it difficult to maintain emotional balance. The feelings experienced when receiving a positive result from prenatal diagnosis vary from person to person.

Before undergoing testing, it is important to understand one's own and one's partner's personality traits.

Prenatal Diagnosis Results - Response of Fellow Pregnant Women

Some people may be considering what decision to make based on the results of NIPT. According to a 2013 survey of NIPT, the following results were obtained:

  • Among 3,514 people who underwent NIPT, 3,438 tested negative and 67 tested positive. Of those who tested positive, 62 underwent amniocentesis for confirmation diagnosis.
  • Among those who underwent amniocentesis, 6 had no abnormalities, and 56 had abnormalities. Of those with abnormalities, 53 chose to terminate the pregnancy.

Looking at the above results, it can be seen that when disabilities of the baby are detected as a result of NIPT, most people choose to terminate the pregnancy.

Things to Consider Before Undergoing Prenatal Diagnosis

Prenatal diagnosis is not necessarily something that must be done. However, it is natural for parents to be concerned about whether their baby in the womb is healthy.

While prenatal diagnosis can be easily undergone, it is important to consider what actions you would like to take for each case.

  • ・Whether to receive notification from the doctor if abnormalities are found in the test
  • ・Whether to continue the pregnancy if there is a possibility of chromosomal abnormalities in the baby in the womb

Tendencies in Mindset Before Undergoing NIPT

Some individuals may find it difficult to consider situations that have not yet occurred before undergoing NIPT. In fact, surveys regarding NIPT have revealed the following results:

  • ・The survey asked about the coping strategies when the baby has an illness or disability.
  • ・Among women, 41% chose "to give birth," 30% chose "depending on the partner's feelings," 23% chose "uncertain," and 2% chose "to terminate the pregnancy."
  • ・Among men, 17% chose "to give birth," 45% chose "depending on the partner's feelings," 21% chose "uncertain," and 5% chose "to terminate the pregnancy."

However, even if individuals consider giving birth despite the baby having a disability, many actually face significant dilemmas and opt for pregnancy termination. Furthermore, even if one desires to give birth, they may be encouraged to terminate the pregnancy by their partner or family.

Especially when abnormalities are detected in the baby through NIPT or subsequent confirmatory tests, individuals may experience significant shock and anxiety, making it difficult to make calm judgments. Seeking support from experts is recommended, particularly when testing positive in NIPT.

Seek Counseling When Undergoing Prenatal Diagnosis

When abnormalities are found through NIPT, many individuals find themselves unable to confide in someone and end up bearing their worries alone. When abnormalities in the baby are detected as a result of NIPT, counseling by experts is available.

Supporting individuals to understand and adapt to the various impacts of genetic diseases, such as those related to chromosomes, is the role of "genetic counseling." Typically, undergoing genetic counseling is recommended before undergoing NIPT.

In genetic counseling, individuals can receive the following information from experts such as doctors or counselors:

  • ・Methods and characteristics of NIPT testing
  • ・Benefits and drawbacks of undergoing testing
  • ・Treatment and social support for the baby in case of disabilities

Furthermore, the purpose of counseling is not to provide information but to guide the individual toward actions they desire through dialogue. Through counseling, individuals are not instructed or directed; they remain the agents of their actions.

There are Non-Profit Organizations Where You Can Consult About NIPT

In Japan, genetic counseling is conducted by specialists who have been certified by academic societies. However, the number of genetic counselors in Japan is currently less than 300 nationwide, which is still insufficient. Therefore, there may be cases where genetic counseling is not available in your area.

Recently, there are also non-profit organizations (NPOs) formed by volunteer doctors, nurses, or families of children with disabilities. For example, the NPO "Yurikago" provides a service where you can consult with experienced individuals who have undergone NIPT.

Additionally, when abnormalities in the baby in the womb are detected, pamphlets are created for both those who choose to continue the pregnancy and those who do not. Since many people may be undecided about whether to continue the pregnancy based on the results of NIPT, the pamphlet is one for both cases.

By opening the front and back covers of the pamphlet, you can find information tailored to your direction.

If you are unable to undergo genetic counseling before undergoing NIPT or are struggling after receiving a positive result, utilizing such support may be beneficial. It can serve as a significant opportunity to express your feelings openly.


NIPT is a screening test for chromosomal abnormalities in the baby in the womb. Since it can be conducted early in pregnancy, many people choose to terminate the pregnancy when a positive result is obtained.

However, the high number of individuals opting for termination may be attributed to a lack of understanding about the purpose of NIPT and the medical and social support available for children with disabilities.

When undergoing NIPT or when struggling with the results, consider utilizing resources such as genetic counseling. Through dialogue with experts and experienced individuals, choose the best path for yourself.


Asahi Shimbun Digital - Support for Pregnant Women by NPOs When Troubled by Prenatal Diagnosis Results

Certified Genetic Counselor System Committee