Should I undergo NIPT (non-invasive prenatal testing)? Explaining the advantages and disadvantages [supervised by a doctor]

We will introduce the advantages and disadvantages that NIPT (non-invasive prenatal testing) brings to pregnant women and their families, the risks associated with undergoing NIPT (non-invasive prenatal testing) , and what you should know and understand before undergoing NIPT (non-invasive prenatal testing).

Benefits of NIPT (New Prenatal Testing)

People who are considering NIPT (new prenatal testing) have various reasons for doing so, such as being older, having had a baby with a chromosomal disorder before, or having a brother or sister with a chromosomal disorder.

Let’s take a closer look at the benefits of undergoing NIPT (new type prenatal testing) .

Being able to test the fetus (baby in the womb)

The first benefit is that it is possible to find out whether the baby has a chromosomal disorder while still in the womb. The biggest benefit of receiving NIPT (non-invasive prenatal testing) is that it can be found out before the baby is born .

There are several types of chromosomal disorders that can be detected by NIPT (new type prenatal testing) , and it is known that the incidence of all of them increases with maternal age. In particular, the probability increases sharply when the age of childbirth exceeds 35 years old , so NIPT (new type prenatal testing) is mainly requested by people who are worried about their age at childbirth or who have experienced miscarriage in the past .

Let’s look at the percentage of babies born with major chromosomal disorders.

As mentioned above, Down syndrome is the most likely to occur, while Patau syndrome has a low probability of occurring. However, the probability of occurrence of either chromosomal disorder increases sharply once the mother reaches the age of 35 at birth.

Get ready for your baby sooner

NIPT (new prenatal testing) can be performed from about the sixth week of pregnancy. The advantage of knowing the baby’s condition during this early stage of pregnancy is that you can prepare to welcome the baby.

Of course, if the NIPT (new prenatal testing) results are negative, you may be able to continue your pregnancy with peace of mind.

However, when NIPT (non-invasive prenatal testing) reveals that the baby in the womb has a chromosomal disorder, the family must accept the results and decide how to act.

For example, you will have time to research and find out what kind of disease you have, and you can also look for hospitals near your home where you can receive treatment, or facilities or organizations that can provide consultation and follow-up.
Finding out your baby’s condition early on can be a shock, as you may think, “I can’t believe it’s my child…”, but you can accept the fact and prepare to welcome the baby with a positive attitude.

To prepare yourself mentally, it is essential to have a hospital where you can receive thorough counseling.

By taking NIPT (non-invasive prenatal testing) and learning about the baby’s condition, the family can acquire correct knowledge about the disease and take proactive measures to ensure that the baby receives appropriate treatment and follow-up as the baby grows.
If you can prepare yourself early, you will be able to overcome any conflicts and make various preparations to accept your one and only child in the world.

Just thinking about the choice of whether or not to undergo NIPT (non-invasive prenatal testing) can make you realize that it was a miraculous probability that our child was able to be conceived in our womb, and that pregnancy, childbirth, and child-rearing are not things to be taken for granted .

Low risk to mother and fetus

A major advantage and feature of NIPT (new prenatal testing ) is that it places very little strain on the pregnant woman’s body.

A major advantage of this test is that it only requires a blood draw, so there is no direct stimulation of the baby in the womb and there are almost no risks involved.

Tests for chromosomal disorders during pregnancy include amniocentesis and chorionic villus sampling, but these tests place a great burden on the pregnant woman’s body because they involve inserting a needle directly into her abdomen. As the test involves inserting a needle directly into her abdomen, it also poses a great risk to the baby inside the womb.

In addition, there is a possibility that the insertion of the needle could cause the water to break, leading to a miscarriage or stillbirth , which is why many people hesitate to get tested.

What is chorionic villus sampling?

Chorionic villi are part of the placenta that connects the baby and mother.
This is a test method in which anesthesia is administered, a long, thin needle (injection) is inserted directly into the abdomen to extract the chorionic villi, and then the extracted villi are examined. There is also a method in which an instrument is inserted through the vagina and up the cervix to extract the chorionic villi.
This test is called a “definitive test,” and the results will not be false positives. There is said
to be about a 1% chance of miscarriage , and there is also the possibility of bleeding or water breaking.

What is amniocentesis?

This is a method to collect the amniotic fluid that surrounds the baby and perform an examination.
Since the amniotic fluid contains the baby’s cells, information on the baby’s genes and chromosomes can be examined. The position and condition of the baby is confirmed using an ultrasound, and a long, thin needle is inserted into the abdomen to collect the amniotic fluid for examination. The
pain of collecting the amniotic fluid is similar to that of a regular injection, and in many cases no anesthesia is administered.
The amniotic fluid is cultured to increase the number of baby’s cells, and then the chromosomes contained in it are examined, making it a time-consuming examination.
Furthermore, there is a 0.1-0.3% chance of miscarriage after this examination , and bleeding and water breaking may also occur.

Tests that place a direct burden on the mother, such as amniocentesis and chorionic villus sampling, are called “invasive tests.” Tests that can be performed with almost no burden on the pregnant woman’s body, such as NIPT (non-invasive prenatal testing) , are called “non-invasive tests.”

In this regard, NIPT (new type prenatal testing) only requires a blood sample.
NIPT (new type prenatal testing) does not carry the risk of miscarriage or anxiety that comes with invasive testing.

Disadvantages of receiving NIPT (new type prenatal testing)

Next, let’s look at the disadvantages of NIPT (new type prenatal testing) .

Although NIPT (non-invasive prenatal testing) is a low-risk test, there are many concerns for parents who are looking forward to the birth of their baby. Please correctly understand what
NIPT (non-invasive prenatal testing) is, the cost, the preparation for the test, and NIPT (non-invasive prenatal testing) , and understand not only the advantages but also the disadvantages of receiving NIPT (non-invasive prenatal testing) before deciding whether to receive the test.

Sometimes anxiety doesn’t go away

What if you undergo NIPT (new type prenatal testing) and are diagnosed with a chromosomal disorder?

If you find out that your baby has a chromosomal disorder at an early stage, you can make arrangements to choose the hospital for birth and make plans for how to follow up on your baby after birth, but it can be difficult for you to accept the fact, and you may experience a great shock and spend a lot of time worrying.

You may worry deeply about whether you can raise and love a baby with a disease, regret your decision, and feel guilty.

Also, while you may feel relieved if the result of NIPT (non-invasive prenatal testing) is negative, there is still a possibility of a “false negative” result, where a negative result is obtained even though the result is actually positive.

In other words, even if you get a negative result, you may continue to worry that it might be a false negative. Although the probability of a false negative is extremely low, it can be worrying.

This is where the aforementioned “definitive tests” such as chorionic villus sampling and amniocentesis become necessary. If NIPT (non-invasive prenatal testing) is positive or the result is pending, these tests are taken to make a definitive diagnosis.

Although amniocentesis and chorionic villus sampling are definitive tests, they place a great burden on pregnant women and the tests may lead to problems such as miscarriage or bleeding.

NIPT (new type prenatal testing) is a non-definitive test, so unless you undergo a test that can give you a definitive diagnosis, it is not 100% certain that your baby will have a chromosomal abnormality. You need to take into consideration various factors before undergoing the test, such as the risk of miscarriage from invasive tests such as amniocentesis and chorionic villus sampling, and the burden on the pregnant woman’s body.

Hiro Clinic NIPT ‘s NIPT (new type prenatal testing) incurs a fee if the result is positive, but we provide examinations by our doctors and genetic counseling to those who wish, and we also provide aftercare to help ease any questions or concerns that pregnant women and their families may have.

Usually only three disorders are identified

We have introduced three major chromosomal disorders: trisomy 21 (Down syndrome) , trisomy 18 (Edwards syndrome) , and trisomy 13 (Patau syndrome) . In terms of abnormalities in the number of chromosomes, the incidence rates of these three are high, so in particular, facilities certified by the Japan Medical Association are only allowed to test for these three trisomies.

However, there are actually many other chromosomal diseases, and at Hiro Clinic NIPT , we not only test for the three trisomies of chromosomes 21, 18, and 13 mentioned above, but also test all chromosomes (full chromosome testing), including chromosomes 1 to 22, known as autosomes, and sex chromosomes.

In addition to testing for abnormalities in the number of chromosomes, we can also test for diseases caused by abnormalities in the structure of chromosomes, such as ” autosomal partial deletion disease ” and ” autosomal partial duplication disease .”

Other chromosomal disorders detected by Hiro Clinic NIPT

Diseases identified by sex chromosome testing

• Turner syndrome
• Klinefelter syndrome
• XYY syndrome (Jakob syndrome)
• XXX syndrome (triple X syndrome, trisomy X)

Diseases identified by tests for autosomal partial deletions and autosomal partial duplications

• 1p deletion syndrome
• 4p deletion syndrome (Wolf-Hirschhorn syndrome)
• 5p deletion syndrome (cri du chat syndrome)< /a>
• 15q11.2 deletion syndrome (Prader-Willi syndrome, Angelman syndrome)
• 22q11.2 deletion syndrome (Digeorge syndrome)

etc.

If you would like to check for not only the three trisomies but also other diseases like these, we recommend that you consider Hiro Clinic NIPT .

Costly

Like many prenatal tests, NIPT (new type prenatal testing) is not covered by insurance and must be paid for entirely by the patient.

The cost varies depending on the testing institution, but the cost of the test is by no means cheap. In addition, some facilities require an additional fee for genetic counseling.

While the test itself only requires a blood sample to be taken and is not physically demanding, the downside is that it is not an easy expense to come up with. Discuss with your spouse, family, and doctor and think carefully about whether the test is really necessary before taking it.

Hiro Clinic NIPT offers courses that minimize the test items and make it easier to undergo the test at a low cost, so make good use of this clinic.

NIPT (New Prenatal Test): Considering the pros and cons, should you take it?

When you are wondering whether you should undergo NIPT (new type prenatal testing) , the first thing you will face is the ethical issue of “Does NIPT (new type prenatal testing) amount to the selection of life?”

In fact, there are both pros and cons regarding NIPT (new prenatal testing) .

Opinions in favor of NIPT (new type prenatal testing)

 The pro-opinions are:

• If your baby has a congenital abnormality, you can find out before birth and begin taking measures.
• Early treatment can be started to reduce the negative impact on development and growth.
• Although it may result in an abortion, considering the life of the fetus and the burden on the parents, I cannot say I am against it.

The reasoning behind this seems to be that “if an abnormality is found in the fetus or newborn, the parents will need to be prepared and have the necessary knowledge.”

Opinions against NIPT (new prenatal testing)

The opposing opinion is,

• If an abnormality is found, the woman may request an abortion.
• The parents are given consideration, but the human rights of the unborn child are ignored.
• The lives of unborn children are taken due to the parents’ lack of will and responsibility

There are many opinions that show more consideration for the fetus than the parents. Although they understand that it is a test to detect abnormalities and diseases early, they seem to have a problem with parents who want to abort the baby after receiving the results.

Things to consider, taking into account the pros and cons, so you don’t regret it later

NIPT (non-invasive prenatal testing) can detect chromosomal disorders while minimizing the risks to the mother and baby, but because it is so simple, it can cause great anxiety depending on the results. You may be unsure about whether to take the test or not, how to handle the results, whether you will regret taking the test, how to welcome your baby into the world, what preparations you and your family need to make, etc. Genetic counseling can help ease these various issues, anxieties, and worries.

And, whether the NIPT (new type prenatal testing) is positive or negative, it can be said to be a test that gives you an opportunity to think about how to welcome your baby. Please understand in advance that NIPT (new type prenatal testing) is not a way to “select life” or to eliminate the anxiety of parents.

As mentioned above , Hiro Clinic NIPT also provides follow-up care such as genetic counseling (for a fee) and amniocentesis in cases of positive results.

When undergoing NIPT (non-invasive prenatal testing) , the results should not be received solely by the pregnant woman and her parents. To avoid regretting having or not having undergone NIPT (non-invasive prenatal testing) , it is important to keep in mind that it is also important to consider whether the facility offers thorough consultation about future plans.

【References】

• GTC – 2002 Report No. 13 Answers
• Ministry of Health, Labor and Welfare – Results of a questionnaire survey of NIPT test takers

Article Editorial Supervisor

---

Dr. Kunihiko Shiraogawa

Head Doctor of Hiro Clinic NIPT Nagoya
Certified Obstetrician and Gynecologist, Japan Society of Obstetrics and Gynecology

As an obstetrician/gynecologist with nearly 40 years of extensive experience, he has worked with many pregnant women.
Currently, as the head doctor of Hiro Clinic NIPT Nagoya , he is in charge of NIPT testing, and also provides consultations to pregnant women online at all Hiro Clinic NIPT clinics in Japan.

Brief History

1982 – Aichi Medical University Hospital
1987 – OB/GYN, Kagoshima University Hospital
1993 – Head Doctor, Shiranogawa Clinic
2011 – Kaba Memorial Hospital
2019 – Okamoto Ishii Hospital
2020 – Head Director, Hiro Clinic NIPT Nagoya

Check his Profile here