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isei health: Japanese obstetrician explains the examination and hereditary nature of infertility diagnosis

author:医圣ISEIHEALTH

After pregnancy, repeated miscarriages and stillbirths more than 2 times are called "infertility". I think there are many things that are not clear about the cause, and there are also many people who are having trouble dealing with them and people who are troubled. What should I do if I am diagnosed with infertility? We asked Dr. Matsumi at Ms. Matsumi's clinic Mita about the hereditary nature of infertility, possible causes, examinations, and coping methods.

[This article was released after a Medical DOC consultant confirmed the reliability of medical information]

What is the most common cause of infertility such as recurrent miscarriage and stillbirth even if pregnant? About the examination method and diagnosis

Newsroom:

What is Infertility?

Dr. Matsumi:

Even if pregnancy occurs, repeated miscarriages and stillbirths do not result in a healthy baby is known as infertility. Newly revised, regardless of whether there is a history of childbirth, more than 2 miscarriages or stillbirths are defined as infertility.

Newsroom:

Why does infertility occur?

Dr. Matsumi:

The causes of infertility are often not well understood. In fact, about 65% of people don't know why. In addition, it occurs due to various reasons such as positive antiphospholipid antibodies, abnormal uterine morphology, abnormal coagulation, abnormal thyroid function, and chromosomal abnormalities.

Newsroom:

Is it infertility or an occasional miscarriage, how can you tell the difference?

Dr. Matsumi:

After the examination and examination, it is necessary to check the blood clotting system and hormone values. For uterine morphological abnormalities, ultrasound, hysteroscopy, hysterosalpingography, MRI, etc. are used.

Newsroom:

What to do if you are diagnosed with infertility?

Dr. Matsumi:

The above tests are performed to confirm the cause of infertility. The causes of infertility are very numerous.

In the "Infertility Management Recommendations Based on the Research Results of the Ministry of Health, Labor and Welfare" produced by the Ministry of Health, Labor and Welfare, the "Infertility Management Recommendations" also show "uterine morphology examination", "endocrine examination", "antiphospholipid antibody examination", and "blood clotting factor examination", etc., and systematic screening is required to find the cause of infertility.

Is it easy to pass on infertility to children? Things to know if family members and parents are diagnosed with infertility

Newsroom:

I've heard that "infertility is hereditary". Are you sure?

Dr. Matsumi:

Not only infertility, but many diseases are thought to be based on genetic abnormalities and are inherited quite a bit. If you are a little more professional, you will be directly passed on to your child if you have structural abnormalities such as microchromosomes. Therefore, if it applies to infertility, it can be said that "infertility is hereditary".

In this way, the general physical nature and the susceptibility to illness are inherited from parents to children, so confirming "family experience" is the basis of the consultation. In addition, due to the influence of smoking and alcohol consumption, it can also cause diseases such as cancer and lifestyle-related diseases.

Although acquired, these are also acquired modifications to the chemical structure of the DNA that makes up the genes on the chromosomes, resulting from changes in genetic information.

Returning to the topic of infertility heredity, there are familial diseases such as abnormalities of enzymes necessary for blood clotting as one of the causes. In addition, chromosomal structural abnormalities, especially in the case of mothers, are rarely passed on to children.

Newsroom:

What should I do if my family and parents have been diagnosed with infertility and want to get pregnant?

Dr. Matsumi:

If your sisters and parents are suffering from infertility, it is also a good idea to be actively screened for infertility.

This time, we will talk about infertility and heredity, and from the point of view of miscarriage caused by chromosomal microstructure abnormalities, in the case of in vitro fertilization, we will study preimplantation genetic testing (PGT-A· PGT-SR) is better.

Newsroom:

What kind of inspection is that?

Dr. Matsumi:

In vitro fertilized zygotes, which are part of the cells of the embryo, are collected and the number of chromosomes of the fertilized eggs is checked. It is called so because it is performed before transplantation (before implantation).

Chromosomal abnormalities include abnormalities in the number of chromosomes and structural abnormalities. PGT-A is a test that confirms an abnormal number of chromosomes in an embryo, i.e., a fertilized egg. PGT-SR is a test that confirms structural abnormalities in the chromosomal structure of the embryo.

Through these tests, infertility caused by chromosomal abnormalities can be avoided, and pregnancy and fertility rates can be expected to increase, and miscarriage rates can be reduced.

In order for the baby to be born safely, what is the treatment for infertility? Treatment also changes based on the results of tests such as thyroid hormones and diabetes?

Newsroom:

Can infertility be treated?

Dr. Matsumi:

Yes, research on infertility is ongoing, and several treatments have now been established. For example, there is a treatment called "low-dose aspirin therapy".

This is a treatment for abnormal blood clotting, one of the causes of infertility, and prevents microscopic blood clots in blood vessels by inhibiting excess clotting function.

In addition, congenital uterine morphological abnormalities (uterine malformations) such as bicornuate uterus and septal uterus are treated surgically, that is, surgery.

Newsroom:

What other treatments are available?

Dr. Matsumi:

Low-dose aspirin therapy, low-dose aspirin-heparin combination therapy, PRP therapy, a new treatment strategy for more refractory infertility and implantation disorders, and embedded therapy for infertility due to immune abnormalities.

"PRP therapy" is a regenerative medicine that uses the blood of patients to suppress pathological inflammation mainly through the action of good proteins contained in living cells in the blood.

"Endotherapy" is a new treatment that is now gaining traction, and it is a lipid emulsion that is being used to treat miscarriage caused by immune abnormalities. At present, some clinics and universities in Japan, including our hospital, are working energetically.

Newsroom:

Does the treatment differ depending on the cause?

Dr. Matsumi:

Yes, these treatments are prioritized if endocrine abnormalities are the cause of infertility, for example.

If abnormal thyroid function is the cause of infertility, it is better to take thyroid hormones internally to normalize thyroid function, and in the case of diabetes, it is best to control blood sugar levels before getting pregnant.

In cases of clotting abnormalities, as mentioned above, aspirin and heparin are used to treat states in which blood tends to clot.

Many people are troubled by infertility, and on the other hand, there are also many people who are troubled by repeated chemical abortions due to repeated challenges to IVF. People who have had recurrent miscarriages and chemical miscarriages may be considered for preimplantation testing.

There are no abnormalities of chromosomes and structures when I receive this examination, and it is possible to choose a fertilized egg with a low probability of miscarriage and stillbirth to be transferred to the uterus. On the other hand, even if a fertilized egg is transferred that is genetically not at all problematic, there are a certain number of people who have recurrent miscarriages or chemical miscarriages.

Such a person will also have a strong immune system activity and rejection reaction to the fertilized egg, so it is recommended to check for immune abnormalities beforehand. In any case, if you have any difficulties, please consult an experienced and knowledgeable doctor.

Infertility is an area of medicine that still has a lot to be understood. When choosing a medical institution, it is important to investigate what kind of treatment results you have in the hospital.

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