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Different Perspectives on NIPT

Different Perspectives on NIPT

In 2011, a new prenatal test, NIPT, was announced by Sequenom in the United States.
Unlike traditional prenatal tests, it can be done easily, which has sparked significant reactions worldwide.
However, despite the ease of testing, there are also concerns.
How do many people perceive NIPT?

Table of Contents

Advantages of NIPT

To understand the perspectives on NIPT, we must first understand its features. Here are the advantages of NIPT.

A Test with Minimal Burden on Mother and Child

One characteristic of NIPT is that it poses minimal burden on both mother and child.

Traditional prenatal tests, such as amniocentesis and chorionic villus sampling, involve inserting a needle to collect cells from the amniotic fluid or placenta for testing.

However, such procedures carry risks of bleeding, premature rupture of membranes, and even miscarriage, occurring in about 1 in 300 cases, making them far from simple tests.

In contrast, NIPT uses the mother's blood. It examines fragments of DNA circulating in the mother's blood to test for fetal chromosomal disorders.

Since there is no need to puncture the amniotic fluid or placenta like in amniocentesis, the fetus is under minimal stress. The blood draw itself only takes a few minutes, causing minimal stress for both mother and child.

The ability to conduct the test safely and quickly is a strength of NIPT.

High Testing Accuracy

Another feature of NIPT is its high testing accuracy.

The tests measure sensitivity (the probability of a positive test when the fetus has a chromosomal abnormality) and specificity (the probability of a negative test when the fetus does not have a chromosomal abnormality). For NIPT, sensitivity is 91.7% and specificity is 99.1% for trisomy 13; sensitivity is 100% and specificity is 99.6% for trisomy 18; and sensitivity is 99.1% and specificity is 99.9% for trisomy 21.

This means that if the fetus has trisomy 21 (Down syndrome), there is a 99.1% chance the test will be positive, and if there are no issues, there is a 99.9% chance the test will be negative.

NIPT is not only less burdensome for the mother and child but also a reliable test due to its high accuracy.

Disadvantages of NIPT

NIPT is not without its drawbacks. To fully understand it, we must also be aware of its disadvantages.

NIPT is a Non-Diagnostic Test

Despite the high accuracy of NIPT, it is unfortunately not a diagnostic test.

A diagnostic test is one that can definitively diagnose a fetal disorder based on the test results.

On the other hand, a non-diagnostic test evaluates the likelihood of a fetal disorder but cannot definitively determine the result.

This means that even if NIPT shows high accuracy, the actual results cannot be known without also conducting diagnostic tests such as amniocentesis or chorionic villus sampling.

Of course, NIPT can help determine whether to proceed with riskier diagnostic tests, so it is not without value.

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

Reasons for Undergoing NIPT

Recently, NIPT is increasing worldwide, including in Japan. But what do people really think about NIPT?

Relieves Anxiety

There are stories of reduced anxiety after undergoing NIPT. With the increasing age of mothers, it is not uncommon to be pregnant in the late 30s. The incidence of chromosomal abnormalities such as Down syndrome increases with age, leading to concerns about the health of the child.

This is especially common for those whose first child has Down syndrome or other conditions. While they may love their child dearly, raising more than one child with disabilities can be an overwhelming challenge, sometimes even affecting the decision to have more children.

If the result is positive, considering termination is an option. Knowing the fetal condition early helps alleviate concerns and risks associated with childbirth.

Prepares for Childbirth

Another reason for undergoing NIPT is the preparation for childbirth. Even if the test result is positive, and they decide to give birth, knowing in advance can make a big difference.

Understanding and knowledge of disabilities and diseases, as well as convincing family and relatives, may be necessary. In some cases, cooperation from others might be required.

Additionally, it is essential to research support services such as disability welfare services and disability child welfare allowances provided by the government or prefectures.

By being prepared in advance, parents can raise their child without undue stress.

Reasons for Not Undergoing NIPT

While many undergo NIPT, some choose not to. Knowing the results in advance seems beneficial, but why do some people decide against NIPT?

Do Not Want to Choose Life

One reason for not undergoing NIPT is the desire to avoid choosing life. In many cases, if the result is positive, family and relatives may recommend termination. Considering the hardships and economic burden of raising a child with disabilities, termination is not an unreasonable option. Sometimes even doctors may recommend termination.

However, this decision can be burdensome. What could have been ignored without knowing must now be decided upon.

Some might consider it indecisive, but choosing life is a significant decision that can affect one's entire life.

For some, it is better not to know and avoid the associated distress.

Does NIPT Help Parents?

Since its introduction in Japan in 2013, approximately 65,000 NIPT tests have been conducted. About 90 facilities, including university hospitals, offer NIPT testing.

Globally, it is conducted in countries such as the United States, the United Kingdom, France, Belgium, Germany, and the Netherlands. Some countries, like Belgium, offer reimbursement for test costs, and in the UK, the test is available for free, showing significant support and promotion.

Many people who have experienced the test have positive opinions, saying "I'm glad I knew" and "I was able to prepare myself." In Japan, about 90% of those who test positive choose termination. Many parents and doctors recommend NIPT, and it will likely continue to help parents with childbirth concerns.

However, there are also skeptical voices. Some worry that the ease of NIPT may lead to taking termination lightly or fostering negative attitudes towards children with disabilities. Various organizations and medical professionals express their views in opinion pieces and conferences.

While undergoing NIPT is not wrong, the most important thing is how to face and make decisions based on the results.

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