HUMEDITロゴ

Double the Number of People Getting Tested! Current Status of New Prenatal Diagnosis

Double the Number of People Getting Tested! Current Status of New Prenatal Diagnosis

NIPT has been fully introduced in Japan since 2013, and the number of people taking the test has increased 2.4 times in the last 10 years.

About NIPT

NIPT is a test to check for chromosomal abnormalities in the baby by drawing blood from the pregnant mother and testing for Cell Free DNA in the mother's blood.

Chromosomes contain our genetic information, and there are a total of 46 chromosomes (23 pairs). It is known that abnormalities in the number or structure of chromosomes can cause deformities or diseases.

NIPT reveals three chromosomal abnormalities

Although there are several chromosomal abnormalities in babies, currently only three chromosome count abnormalities, including Down syndrome, can be diagnosed by NIPT at licensed facilities in Japan.

Data show that 3.0% to 5.0% of babies born in Japan have congenital diseases, 25% of which are due to chromosomal abnormalities. NIPT is particularly significant because Down syndrome accounts for the majority of chromosomal abnormalities in the fetus.

 In the past, amniotic fluid tests and other tests to check for chromosomal abnormalities in babies have been conducted. The advantage of NIPT is that it can be performed easily with a blood sample of only 10 ml.

Number of people undergoing NIPT more than doubled

NIPT has been fully introduced in Japan since 2013, and the number of people taking the test has increased 2.4 times in the last 10 years.

The first is that the number of "older pregnancies," i.e., those over the age of 35, is increasing every year in Japan against the backdrop of later marriages. These days, it is not uncommon for a baby to be born at age 40 or older. Since chromosomal abnormalities in babies correlate with the age of the pregnant woman, it is possible that more and more people are interested in NIPT.

 The second is Japan's declining birthrate. Japanese women are having fewer and fewer children each year, and the birthrate is declining. It is natural that more and more people want to have healthy children because they are only children.

Thus, the number of people undergoing NIPT is increasing not only because the test itself is easy to perform, but also because of social factors in Japan, such as the older age of pregnancy and childbirth and the declining birthrate.

NIPT test results are not a definitive diagnosis.

Although NIPT is easy to perform, a positive test result does not necessarily mean that the fetus has a chromosomal abnormality. 99.9% of NIPT tests are accurate, so a full amniotic fluid test or other tests are required to confirm whether the baby actually has a chromosomal abnormality.

NIPT can confirm chromosomal abnormalities in the fetus at a relatively early stage after conception. For this reason, some people do not wish to continue the pregnancy when the test is positive. This is not only because many people want a healthy baby, but also because the environment for raising children with disabilities in Japan is not adequately prepared.

NIPT, which was originally designed to detect the possibility of fetal disabilities at an early stage, has also been used as a trigger for abortions.

Although fetal abortion is regulated by a law called the Maternal Protection Law, there is no clear statement on whether abortion is allowed when the baby is sick or disabled. Therefore, abortions are performed for "economic reasons" because a certain amount of financial resources may be required to care for a sick or disabled child.

 The rapid spread of NIPT requires careful consideration from an ethical standpoint.

Medical institutions where NIPT is available

When NIPT was first launched, only 15 facilities were conducting the test, but by fiscal year 2008, the number of facilities had increased to 90. At the same time, the number of facilities that are not accredited by the Japanese Society of Obstetrics and Gynecology to perform NIPT is increasing.

The Japanese Society of Obstetrics and Gynecology recommends that you receive NIPT accreditation at an accredited facility, and the following conditions are presented.

  • Must have an obstetrician/gynecologist and pediatrician.
  • Ability to perform amniotic fluid tests and abortions for definitive diagnosis.
  • What genetic counseling does

etc.

Although genetic counseling is not a required part of the NIPT, it is a helpful way to address the concerns that you tend to have before and after the test. 

On the other hand, overcapacity at accredited facilities is thought to be a factor behind the increase in testing performed by non-accredited facilities. Other factors include regional disparities in the number of NIPT accreditation facilities.

Most NIPT accredited facilities are concentrated in medium-sized or larger cities, and in some cases, there are no NIPT accredited facilities in your area.

Non-accredited facilities are characterized by the ease with which you can take NIPT. The results of the test can also be checked by mail or from a smartphone, making it highly convenient.

If the NIPT results are positive.

NIPT screens for chromosomal abnormalities in the fetus for early detection of disease. If the baby's abnormality is identified from the gestational stage, treatment can be started at an early stage after delivery.

On the other hand, many people are puzzled when NIPT reveals that their unborn baby has a chromosomal abnormality; some may want to abort the baby if the NIPT test is positive.

 Especially nowadays, it is easy to look up information on smartphones and computers. However, relying solely on the Internet for information can be biased; if your NIPT results are positive, you may want to read a book about children with disabilities.

In many areas, there are family groups for families whose children have chromosomal abnormalities and "rehabilitation nurseries" that provide education for children with disabilities; if your baby was found to have a chromosomal abnormality during NIPT and you are wondering what to do, you may want to visit one of these places.

At first, everyone is concerned that they will not be able to raise a child with a disability. Seeing a child with a disability with your own eyes and hearing the experiences of a family member of a child with a disability will help you to clarify your own thoughts about disability, the child's happiness, and your own ideas.

Then, try to understand the current situation of raising children with disabilities and determine what path to take.

summary

With the aging of marriage and childbearing in Japan, more and more people are becoming concerned about whether their babies have chromosomal abnormalities prior to NIPT. Although statistics show that the probability of a baby being born with a chromosomal abnormality is low, testing can sometimes reveal the possibility of chromosomal abnormalities in the fetus.

 Some who have undergone the test view NIPT positively, saying that they were better prepared because they knew in advance what their baby's disease was, while others regret that they would have been better off not knowing their baby's disorder.

Undergoing NIPT can be a big choice, and when undergoing NIPT, it is important to consider what you will do if your baby is found to have a chromosomal abnormality.