What can we do to have a healthy baby?

What can we do to have a healthy baby?

Prenatal diagnosis, as the term implies, is a test that allows a baby to be examined in advance for developmental abnormalities before birth.
This article will consider what can be done through prenatal diagnosis to welcome a healthy baby.

Prenatal Diagnosis

These days, a variety of tests can be performed from the time a baby is conceived to the time it is born. Prenatal diagnosis, as the term implies, is an examination that can be performed before the baby is born to check for any developmental abnormalities. The ultrasound examinations used by pregnant women for routine checkups and heart rate monitoring for the baby are also considered to be part of prenatal diagnosis.

However, it was not in the conventional broad sense, and prenatal diagnosis was recognized as a genetic test that tests for congenital abnormalities in babies, especially whether they have chromosomal abnormalities or hereditary diseases (including amniotic fluid tests, etc.). In recent years, the maternal serum marker test, which diagnoses changes in baby-derived proteins in the mother's blood to confirm the probability that the baby has a specific chromosome abnormality or spina bifida, etc., and the ultrasound test, which diagnoses the degree of thickening in the swelling of the baby's neck to determine whether the baby is likely to have an abnormality for a specific chromosome, etc., have been recognized as prenatal diagnostic tests. In the narrow sense of the term "prenatal diagnosis," these diagnostic procedures also fall under the category of prenatal diagnosis.

This is one of the reasons why prenatal diagnosis options have become so diversified. It is natural for mothers to care for their children, so it is very good to be able to choose from such a wide variety of prenatal diagnosis methods.

What is NIPT?

As mentioned above, prenatal diagnosis has become increasingly diverse, and can be performed using a variety of methods. The official name for NIPT is noninvasive prenatal genetic testing. The acronym NIPT is an acronym for the English word.

This test is performed using the blood of a pregnant woman. As for technological innovations in the medical field, they are ever-evolving. As these studies have progressed, it has been discovered that pieces of the baby's chromosomes are flowing out into her own blood. This piece of chromosome is called "cell free DNA" in the medical field. The actual specific testing procedure is performed using a machine called a next-generation sequencer. This is a diagnosis that allows us to evaluate the results in more detail than the mother.

About NIPT test results

Even if you take the NIPT test, it does not mean that you will be able to know every event in the world of the Shinra. Currently, what the NIPT test can measure is limited to three evaluations: 21 trisomies, 18 trisomies, and 13 trisomies. The test is characterized by its high reliability when the test result is "negative. If the result is negative, we can say that the probability of the occurrence of abnormalities in the three aforementioned chromosomes is as high as 99.9%.

However, a "positive" diagnosis, unlike a "negative" diagnosis, cannot be affirmed with a high degree of certainty. This is due to the fact that the reliability of the test varies with age. Because of these characteristics of NIPT, a positive diagnosis requires an amniotic fluid test to confirm the diagnosis.

In addition, cell free DNA is composed of very fine material. Because of the microscopic nature of the DNA, it is necessary to assume that the blood sample may be "withheld" for determination, which may result in a retest.

About the medical institutions where the tests are available

The NIPT test is not available at all medical facilities in town. There are two main types of facilities: those that are accredited by the Japanese Medical Association and the Japanese Society of Obstetrics and Gynecology to perform the test (hereafter referred to as "accredited facilities"), and those that are not accredited (hereafter referred to as "unaccredited facilities"). The difference between the latter and the former is that the former are basically accredited by the Japanese Medical Association and the Japanese Society of Obstetrics and Gynecology, while the latter are not. The difference between the latter and the former is basically the same. You can be assured that you will receive a proper examination whether at an accredited or unaccredited facility, and that the person who performs the examination is an obstetrician/gynecologist.

To be tested or not to be tested

Now that you have an understanding of what the tests are, it is time for you to decide whether or not to take them. However, the most important thing is your decision to take the test or not.

Prenatal testing to determine the condition of the baby in the belly is highly beneficial. However, the high accuracy of the test results paradoxically means that if the test turns out to be positive, it is confirmed that the baby will be born with a disorder.

When this happens, whether or not to give up childbearing may be an option. How one should deal with the life that has been given to him or her is a matter of great debate. Genetic counseling can be very effective for those who have such concerns.

What is Genetic Counseling?

Genetic counseling is the process of helping people understand and adjust to the medical and psychological effects of the development of genetic disorders and the risk of developing them, as well as their impact on the family. Since it is named counseling, it is a process of deepening mutual understanding through dialogue and other methods with the people involved in the family who have given birth to a baby, so it is not just about listening to what the person in charge says as in a lecture, but mainly about deepening understanding through dialogue.

When a family has a child and the NIPT test is positive, it is necessary to consider how to deal with the situation. Of course, it is not a problem if the answer can be reached only through discussion within the family, but by working together with a physician, clinical geneticist, certified genetic counselor, or other specialist, a decision can be made from a wider range of options.

Genetic counseling can be used to expand these options. Thus, genetic counseling plays a very important role in determining how to treat an unborn baby.

The Importance of Facing Life

Thus, prenatal diagnosis is available through a variety of methods. The benefits of the advances in medical technology over the past can be very significant. However, it could also be said that we know too much, and therefore have more to worry about. It is the people involved in the family that has the child who must make the final decision based on the test results. Various kinds of knowledge and expertise are needed to make a decision. It is the role of medical institutions to support them. I sincerely hope that prenatal diagnosis will be further developed in Japan in the future.