Each of the new prenatal test ideas

Each of the new prenatal test ideas

2011. A new prenatal test, NIPT, was announced by the American company Sequenom.
Unlike conventional prenatal testing, this test is easy to perform and has received a great response around the world.
However, while the test is easy to perform, there are some who are concerned.
What do most people think about NIPT?

Advantages of NIPT

In order to understand the idea of NIPT, we must first understand its features. here are some of the advantages of NIPT.

Testing methods that are not burdensome to mother and child

One of the characteristics of NIPT is the low burden on the mother and child caused by the test.

Conventional prenatal testing has been done by "amniocentesis" or "chorionography". The method involved puncturing the amniotic fluid or placenta to collect cells, which were then examined.

However, the puncture carries the risk of bleeding and water breaking, and with an estimated 1 in 300 miscarriages, it was never an easy test to perform.

NIPT, on the other hand, tests from the mother's blood. By testing for DNA fragments in the mother's blood, the baby is tested for chromosomal disorders.

As with the amniotic fluid test, there is no need to puncture the amniotic fluid or placenta, so there is almost no burden on the fetus. In addition, the blood sampling itself takes only a few minutes, so both the mother and the child are relieved from the burden of the test.

The strength of NIPT is that the test can be performed safely and in a short time.

High inspection rate

Another feature of NIPT is its high testing rate.

The NIPT test has a sensitivity of 91.7% and specificity of 99.1% for 13-trisomies, 100% sensitivity and 99.6% specificity for 18-trisomies, and 99.1% and 99.9% specificity for 21-trisomies. The test for 21 trisomy has a sensitivity of 99.1% and specificity of 99.9%.

In other words, if the fetus has a 21 trisomy (Down syndrome), it will show 99.1% positive for chromosomal abnormalities, and conversely, if there are no problems, it will show negative 99.9% of the time.

NIPT is not only less burdensome for mother and child, but also more reliable due to its high testing rate.

Disadvantages of NIPT

NIPT is by no means only an advantage. Some of the problems can be considered disadvantages. Let us know about the disadvantages in order to fully understand them.

NIPT is a nonconfirmatory test

Although NIPT boasts high test results, unfortunately it is not a definitive test.

A definitive test is "a test to confirm the diagnosis of a baby's disease," which means a test that can be determined from the test results.

On the other hand, a nonconfirmatory test is "a test to evaluate the possibility of a disease in the baby," which only suggests the possibility, but does not determine the result.

In other words, no matter how excellent the results of NIPT may be, the true results cannot be known unless the definitive "amniotic fluid test" and "chorionic villus test" are also performed.

Of course, this is by no means meaningless, as the results of NIPT can determine whether or not a definitive test for risk is required.

Still, the fact that it is not a definitive diagnosis is a disadvantage.

Reasons to undergo NIPT

In recent years, NIPT has been on the rise worldwide, and many people in Japan are also taking the test, but what do they really think about NIPT?

It's a relief for anxiety.

Some say that undergoing NIPT has reduced their anxiety about childbirth. With the aging of the population in recent years, it is not unusual to have a pregnancy in one's late 30s. Because the incidence of Down syndrome and other chromosomal abnormalities increases with age, older women are concerned about whether their unborn children will be safe.

This is especially common when the first child has Down syndrome, for example. No matter how cute my child is, raising two or more children with disabilities can be a difficult task. For some people, it can even slow down their decision to have a baby.

If it is positive, an abortion can still be considered. Knowing the condition of the fetus at an early stage can eliminate the anxiety and risk of "is it safe to have the baby?

I can be prepared for childbirth.

Other reasons to undergo NIPT are that it can prepare you for childbirth. Although you do not need to be tested if you are going to give birth even if the test result is positive, it makes a big difference if you know in advance.

In addition to knowledge and understanding of disabled children and diseases, it is also necessary to persuade family members and relatives. In some cases, it is necessary to ask them to cooperate with us.

It is also necessary to look into support from the national and prefectural governments, such as disability welfare services and welfare allowances for children with disabilities, if necessary.

Even if the birth is the same, having a system in place in advance will allow for easy child rearing.

Reasons for not undergoing NIPT

While some people undergo NIPT, others do not undergo NIPT. It seems to me that it would be better to know the results in advance so that we can deal with the situation, but why don't they take NIPT?

I don't want to sort out life.

One of the reasons for not undergoing NIPT is that they do not want to sort out life. In many cases, once a woman is found to be positive, her family and relatives will recommend that she have an abortion. Considering the hardships of raising a child and the financial burden, it is not strange to have an abortion. In some cases, doctors even recommend abortion.

But that decision can be burdensome. What you could have ignored if you didn't know, you now have to make the decision yourself.

Although it may seem indecisive to some people, the selection of a life can be a life-altering and important choice.

Some people would rather not know than suffer the pain of knowing.

Can NIPT help parents?

Since its implementation in Japan in 2013, approximately 65,000 cases have been performed. More than 90 facilities, including university hospitals, have performed NIPT testing.

It is also implemented in various countries around the world, including the United States, the United Kingdom, France, Belgium, Germany, and the Netherlands. Many countries offer support and recommendations, such as reimbursement of testing costs in Belgium and free testing in the United Kingdom.

Those who have actually experienced the test have many positive comments, such as "It was good to know" and "I feel more prepared. Many parents and doctors recommend NIPT, which will continue to help parents who are anxious about childbirth.

On the other hand, however, there are those who question NIPT because they believe that because it can be done so casually, it may lead people to think lightly of abortion or to have a negative attitude toward handicapped children. Parents who do not want to select life, as well as various organizations and medical professionals, have expressed their opinions in opinion pieces and at conferences.

It is not wrong to do NIPT, but how we face and make choices based on the results may be the most important thing.