Genetic Factors

Chromosomes are of interest in fertility treatment because chromosome disorders occur in more than half of all first-trimester pregnancy losses. Many of these early miscarriages are due to the random occurrence of a chromosomal abnormality in the embryo.

In general, genetic diseases caused by chromosomal abnormalities are not inherited but usually occur as random events during the formation of sperm, eggs, and embryos.

Genetic Disorders That Cause Male Infertility

Gene mutations or various chromosomal abnormalities cause male infertility. They affect the production of sperms or block their flow. Male infertility caused by mutations is less common or not a completely understood concept.

Several chromosomal conditions cause a low sperm count in males. They are:

Kleinfelter Syndrome


Men experience this condition when, at birth, they have an extra X chromosome that affects sperm production and testosterone levels. Such men possess an extra X chromosome. So, they have XXY chromosomes instead of XY. This is a rarity as only one male in every 1000 men has this genetic issue. It happens when the male has a low sperm count and testosterone levels.



Congenital Bilateral Absence of the Vas Deferens (CBAVD)


Yet another genetic cause of male infertility, this mutation is seen only in Caucasian people. It is known to affect male infertility. Here, the vas deferens is absent in the reproductive system. This refers to the tube that transports sperm cells from the male organ to the urethra.

Since this condition is due to the absence of the vas deferens, the male can become fertile again with appropriate genetic counseling. One can overcome this problem with ICSI in the lab.



Y Chromosome Deletion


In the absence of the Y chromosome, male fertility can be compromised. Deleting minor data from the cells’ genetic material can lead to infertility and, consequently, low sperm count.

Other Genetic Abnormalities

Balanced translocations and other such chromosome rearrangements can affect male fertility and cause unexplained infertility and several miscarriages. With preimplantation genetic screening, doctors can detect abnormalities in chromosomes and the possibility of genetic diseases.

In such cases, the egg can be fertilized artificially in the lab, and the sperm genetically tested with PSG so the embryo remains free of mutation.

Genetic Disorders That Cause Female Infertility

The possibility of a woman conceiving easily is low when there are already women in a family who have had endometriosis and early menopause.

Furthermore, female infertility also results from gene mutations or chromosomal abnormalities. This affects the ease with which a woman can ovulate.

The Need to Undergo a Complete Blood Test

Blood tests of a couple are imperative before they undergo any fertility treatment. By undergoing a preimplantation genetic diagnosis (PGD) along with IVF, potential parents can prevent passing on genes with medical disorders to the next generation.

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