Genetic infertility

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Our body is a very complex system consisting of many elements and controlled by an equal number of different factors. Even now, in the 21st century, many of the mysteries of our body are still unresolved.

If we talk about such a widespread problem as infertility, it is impossible to ignore the complexity of the body, and in particular – the genetic factor. Even though infertility, as well as genetic diseases, are more often transmitted to men, women are also at risk of not having children because of a malfunction in the chromosomes.

It is the genes that determine what your child will be, depending on the mix of your genes and your man. Each is a unique set of genes taken from father and mother. Recent discoveries in genetics prove that even equal egg twins do not have identical genes.

Normally, each person has 46 healthy chromosomes – 23 maternal and 23 parentals. Sometimes, however, malfunctions occur, and chromosomes are either not healthy enough or one of them is missing in a row. These mutations cause abnormalities in the body.

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Male Genetic Infertility

In the case of male infertility, its “culprit” is the chromosomes in about half of all cases. Sperm production, quality, and mobility, as well as the quality of sperm in general are controlled by many factors in the male body. More than 2,000 genes are responsible for these factors, often located in the Y chromosomes. It is their mutation often leads to such pathology as azoospermia (absence of spermatozoa in the ejaculate) or a strong decrease in their concentration, insufficient for fertilization.

Another about 5% of men inherit a specific mutation in which the body simply lacks a strait that brings out the seeds.

There is currently no cure for such infertility, but there are several ways around it. To conceive a healthy child, you can use ICSI – a procedure in which the most active and viable sperm are isolated from all the sperm, and they are used to conceive.

If a couple is worried that mutations will be inherited by the child, medics diagnose the quality of the embryos before implantation and transfer only female embryos devoid of the Y chromosome into the uterus.

Female genetic infertility

The most common manifestation of genetic disorders in women is the inability to carry a fetus – every pregnancy ends in an early miscarriage. Two miscarriages before 12 weeks’ gestation are sufficient to raise concerns. In such cases, the woman is sent for gene testing to rule out a mutation.

Polycystic ovarian syndrome is the cause of infertility in 11% of women and is caused by endocrine disorders that disrupt normal ovarian function. It is considered a genetic abnormality.

Another 60% of infertility (and about 26% of miscarriages) are due to adrenogenital syndrome – an excess of male sex hormones due to adrenal gland malfunction. This is noticeable in the early years of life – women go through puberty earlier, and there is a male-type physique and hair.

An even smaller proportion of miscarriages are attributed to clotting disorders that interfere with normal fetal development.

Martin-Bell syndrome (fragile X chromosome) leads to early menopause in women and is also often the cause of birth of defective children.

A change in the number of chromosomes also often causes early miscarriages.

Do I need a screening?

Although most changes in chromosomes are acquired at embryo conception, some are acquired over the course of life. At this point, scientists are not ready to give the exact causes of such mutations, but several factors are likely to influence such serious changes: close relationships, living and working in unhealthy conditions, diet, and age.

The older a woman is, the greater the risk of genetic abnormalities in her and her child. Therefore, it is recommended that all women over the age of 35 undergo genetic screening when planning a pregnancy. Expectant mothers with a family history of abnormal pregnancies (frozen fetus, malformations, stillbirths, or infertility in any of the relatives) also require screening.

If you have been diagnosed with infertility for unclear reasons or have had several miscarriages, you will also be examined.

How to prevent it?

Genetic disorders most often appear now when sex cells in a man or a woman mature. That is why, if you are planning to have a baby, you need to give up alcohol and tobacco, and avoid any harmful substances, because it can affect the health of your baby.

Doctors also recommend consuming more foods with folic acid to your partners when planning a pregnancy – it helps DNA and RNA develop normally, while preserving the full set of genetic information.


The IVF program is sure to include testing for genetic defects in the parents’ bodies so that you don’t fear passing on a disease or abnormality to your baby. This diagnosis makes sure that the embryo you transfer will be healthy and viable.

Even if you are going to conceive on your own, several tests can be done to detect abnormalities. For example, women after 30 are often recommended to check the embryo for Down syndrome, because the higher the age of the mother, the greater the risk of developing such a pathology in the child. This is checked in the first trimester, as are some other genetic diseases and the presence of congenital heart defects.

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