What are the problems with the new prenatal diagnosis? Let's understand the disadvantages.

What are the problems with the new prenatal diagnosis? Let's understand the disadvantages.

Although the new prenatal diagnosis is useful to learn about the health of the baby, there are some problems.
This article presents some of the issues you should be aware of before undergoing a new prenatal diagnosis.

What is the new prenatal diagnosis?

New Prenatal Diagnosis (NIPT)This is a test to check for chromosomal abnormalities by taking blood samples from pregnant women. Although prenatal diagnosis has been available in the past, the difference from the conventional method is that the test can be performed from the 10th week of pregnancy.

NIPT is being tested in Japan and can confirm the presence of three chromosomal abnormalities, including Down syndrome. The major advantage is that it can be undergone at an early stage and without any burden on the pregnant woman.

Problems with the New Prenatal Diagnosis

Although NIPT appears to be beneficial to pregnant women, there are several problems with it.

Although NIPT is said to be highly accurate, the accuracy rate varies from result to result. For example, the negative NIPT result has a 99.9% accuracy rate, while the positive result has a slightly lower accuracy rate. In other words, even if the test result is positive, there may be no abnormality in the unborn baby.

If the test results are positive, you need to take a full examination.

After NIPT, there are two types of tests that can be performed.

  • Amniotic Diagnosis

The test is performed by inserting a needle into the uterus to collect amniotic fluid. The accuracy of the test is said to be almost 100%.

  • Chorionic Test

This is a test in which fetal-derived cells called chorionic villi are collected and examined. This test can be performed at an earlier stage than the amniotic fluid test, but there are few medical institutions that perform it.

Keep in mind that the two tests require direct sampling of amniotic fluid and chorionic villi cells, so there is a small risk of miscarriage.

New prenatal diagnosis can lead to selection for life.

Although NIPT is useful in ascertaining whether a child is born with a chromosomal abnormality, it also raises ethical issues, as some parents may choose to abort the pregnancy if NIPT reveals that their baby has a chromosomal abnormality. In fact, some organizations of people with disabilities have expressed concern about NIPT.

In response to this situation, the Japanese Society of Obstetrics and Gynecology has limited the number of chromosomal abnormalities that can be detected by NIPT to three diseases, including 3 Down syndrome. In order to ensure that NIPT does not easily lead to the selection of life, the following two conditions must be met in order to be eligible for the test.

  • If the baby will be over 35 years old
  • If there is a possible chromosomal abnormality in the baby
  • If you have carried a baby with abnormal chromosome number in the past

NIPT itself can be performed at non-specialized medical facilities because it requires only a blood draw on the pregnant woman. On the other hand, depending on the results of NIPT, it can have a significant impact on the choice of the baby's family.

When the NIPT test reveals the possibility of chromosomal abnormalities in the baby. Professional follow-up, including professional counseling, is desired.

What's next for the new prenatal diagnosis?

It is natural for a family approaching the birth of a child to be concerned about the health of the baby. Many people would like to have a healthy baby if possible. On the other hand, there are a few families who casually undergo a new prenatal diagnosis and then wish to abort their baby.

Reasons for seeking an abortion when there is a possibility of disability in the baby include

  • Concerns about the future of a baby born with a disability
  • Concerns about raising a child with a disability

In fact, five years after NIPT was initiated, a survey reported the following

  • Fifty-eight thousand people were tested for NIPT.
  • 1,038 had positive test results, of which 729 chose abortion.

The above data shows that NIPT, besides helping to prepare and prepare for the baby's disability, also provides an opportunity to choose abortion.

Is abortion due to congenital anomalies OK in the first place?

In Japan, abortion is permitted if it would cause health or financial problems for the pregnant woman. On the other hand, conditions regarding the fetus are not stipulated in the law, and no specific arrangements have been made.

Therefore, some parents choose to have an abortion when some abnormality is found in the baby (the technical term is "elective abortion"). Originally, amniotic fluid tests were conducted in Japan since the 1970s, and some people would have chosen to have an abortion depending on the health of the baby.

Recently, ultrasound examinations, a common test performed on pregnant women, have become more precise. Currently, NIPT, which is performed on a limited basis, is limited to testing for only three chromosomal abnormalities. Therefore, even if the NIPT test is negative, there is a possibility that the baby will be born with some kind of disability.

There will also be a need to discuss elective abortion.

It is also important to clarify the purpose when undergoing NIPT

Older births are increasing in Japan due to the trend toward later marriages. Older births are more likely to cause birth defects such as Down syndrome. Therefore, it is beneficial to know the health status of the baby in advance through NIPT. If NIPT reveals any abnormalities, it can help prepare you in advance for welcoming your baby.

On the other hand, if the test results reveal the possibility of abnormalities in the baby, some may consider abortion in their painful decision. Even those who initially just want to know the health of their baby may change their minds depending on the test results.

As mentioned above, a positive NIPT test result does not guarantee 100% results. Even if the test comes back negative, there is a possibility that the child may be born with other disabilities.

A characteristic of families undergoing NIPT tends to be that many are concerned about the health of the baby and look forward to the birth. On the other hand, the families themselves may suffer a great deal of emotional trauma when a positive NIPT test results in a choice of abortion.

Although NIPT is a very simple test, it is important to discuss it with family members beforehand rather than taking it casually. It is important to clarify each family member's thoughts and opinions about how to respond to each test result in advance. Then, you can decide whether or not to take NIPT.

If you test positive for the new prenatal diagnosis…?

Many parents hope that their baby is healthy. If your baby is found to have a congenital abnormality through NIPT or subsequent confirmatory testing, it is recommended that you first seek counseling.

Genetic counseling is provided for genetic issues such as NIPT. Genetic counseling is also available for those who are not sure whether to take NIPT or not, and those who want to learn more about NIPT are encouraged to seek genetic counseling.


NIPT is a new prenatal diagnosis, in which a pregnant woman's blood is drawn to see if her baby has any chromosomal abnormalities. At this time, only three chromosomal abnormalities are included in the NIPT test, but it is not conclusive as to whether the baby has a disability.

Some families may choose to have an abortion depending on the results of the NIPT test, so NIPT should not be taken lightly, and families should discuss the decision to have the test after careful consideration.