What can be done to conceive a healthy baby

About Prenatal Diagnosis

In recent times, various methods allow testing from conception to birth regarding pregnancies. Prenatal diagnosis refers to examinations conducted before the baby is born to determine if there are any abnormalities in development. Expectant mothers commonly undergo ultrasound scans and fetal heart monitoring during routine check-ups to ensure healthy growth, which are recognized as forms of prenatal diagnosis.

Traditionally, prenatal diagnosis specifically referred to genetic testing, including amniocentesis, to detect congenital abnormalities, especially chromosomal anomalies and hereditary diseases. Recently, advancements include maternal serum marker tests, which diagnose changes in fetal protein in the mother's blood to assess the likelihood of specific chromosomal abnormalities like Down syndrome or spina bifida, and ultrasound scans to evaluate conditions like nuchal translucency thickness, indicating potential chromosomal abnormalities.

With this background, the range of options for prenatal diagnosis has become highly diverse. It is natural for mothers to prioritize their child's well-being, making the availability of various prenatal diagnostic methods beneficial and supportive of informed choices.

What is NIPT?

As mentioned earlier, prenatal diagnosis has diversified, making it possible to conduct investigations through various methods. Among them, one that has recently become a topic of discussion is NIPT. The formal name of NIPT is Noninvasive Prenatal Genetic Testing. It is abbreviated as NIPT, taking the initials from the English words.

This test uses the blood of the pregnant person for examination. The field of medical technology is advancing rapidly. In the course of this research, it has been found that fragments of the baby's chromosomes are present in the mother's blood. In the medical field, these chromosome fragments are referred to as "cell-free DNA". The specific method of the examination is performed using a machine called a next-generation sequencer. This diagnostic method allows for a detailed evaluation of results from the mother.

About NIPT Test Results

Even if one undergoes NIPT, it doesn't provide insight into all aspects of the universe. Currently, NIPT testing is limited to evaluating three conditions: trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), and trisomy 13 (Patau syndrome). One notable characteristic of this test is its high reliability when the result is "negative". If the result is negative, it can confidently assert with a probability of about 99.9% that there are no abnormalities in the three aforementioned chromosomes.

However, if the result is "positive", it cannot be asserted with high certainty as with a negative result. This uncertainty stems from variations in reliability based on maternal age. Differences in accuracy of test results occur across a wide range of ages, from younger to older individuals. Due to these characteristics of NIPT, if a positive result is obtained, an amniocentesis is required for a definitive diagnosis.

Furthermore, cell-free DNA is composed of very fine components. Because of its minuteness, there is a possibility of inconclusive results even after blood collection, necessitating the need for retesting.

Medical Institutions Offering the Test

Not all healthcare facilities in town offer NIPT testing, and the availability period for testing also varies. Generally, NIPT testing is conducted at facilities accredited by the Japan Society of Obstetrics and Gynecology and the Japan Association of Obstetricians and Gynecologists (hereafter referred to as accredited facilities) as per their guidelines. There are also facilities that do not have such accreditation (referred to as non-accredited facilities). Please understand that the basic differences between accredited and non-accredited facilities are not significant. Whether at accredited or non-accredited facilities, you can receive appropriate testing, conducted by obstetricians specialized in obstetrics and gynecology, providing reassurance in either case.

Decision to Undergo Testing

As I have explained so far, I believe you now understand what prenatal testing entails. However, the most important decision revolves around whether to undergo the testing or not.

Prenatal testing to examine the condition of the baby in the womb has significant benefits. Yet, the high accuracy of test results also paradoxically means that if a positive result is found, it could confirm that the baby will be born with a disability.

At such times, the decision of whether to continue with the pregnancy becomes a choice to consider. It's a profound issue that requires careful consideration of how to approach the life you have been blessed with. Genetic counseling can be extremely beneficial for those grappling with such concerns.

Understanding Genetic Counseling

Genetic counseling is a process that helps individuals understand the medical, psychological, and familial impacts of genetic conditions and their associated risks. It aims to assist individuals in adapting to these conditions. As it involves counseling, it typically involves dialogue with family members of those expecting a baby, fostering mutual understanding through conversation rather than merely listening to lectures from professionals.

In families expecting a child, if a positive result is obtained from Non-Invasive Prenatal Testing (NIPT), it necessitates consideration of how to proceed in the future. While discussing within the family may suffice for some, involving experts such as doctors, clinical geneticists, and certified genetic counselors can broaden the range of options for decision-making.

Genetic counseling serves as a platform to expand these choices, facilitating decisions about how to approach the upcoming child. Thus, genetic counseling plays a crucial role in determining how individuals will interact with their future children.

The Importance of Facing Life

In this way, various methods allow for prenatal diagnosis today. The benefits resulting from advances in medical technology compared to the past are significant. However, one could argue that with increased knowledge comes increased worry. Ultimately, it is the family members involved in expecting a child who must make decisions based on the test results. Making these decisions requires a wide range of knowledge and insight. Isn't it the role of medical institutions to support them in this process? Looking ahead, I sincerely hope that further developments in prenatal diagnosis will continue to advance in Japan.