Infertility in both men and women can have many causes. Fortunately, most of these can be treated. But there exist cases where unexplained infertility can happen and it is often linked to genetics or family history.
“Genetics can play a role in fertility challenges like unexplained infertility or recurrent miscarriages in women. Even when conception occurs, genetic factors may still influence the health of the offspring, making this an essential area for couples to understand”, says our fertility expert in Hyderabad Dr. Sreevani Kotha.
For couples planning to start a family understanding the role of genetics in fertility and pregnancy becomes absolutely essential.
In this blog, we’ll explore how genetics/genetic abnormalities impact fertility, what this means for the health of future children, and what treatment options might help. Read on:
What role does ‘genetics play in fertility and reproductive health?
Our bodies are made up of trillions of cells. Each cell contains a nucleus, which includes 23 pairs of chromosomes. One inherits 23 chromosomes from the mother and 23 from the father.
Each chromosome comprises DNA molecules resembling a ‘twisted ladder. Genes are specific segments of this DNA ladder. These genes are like instructions that determine our physical traits, like eye color and height, and influence our susceptibility to certain diseases or medical conditions.
To further simplify, the chromosome, which is made up of DNA and genes, provides a complete set of precise instructions for our body to grow and function properly.
Any slight change in the number or structure may result in abnormalities (chromosomal or genetic) that also impact the reproductive health of both men and women.
These abnormalities can be inherited from parents or spontaneously develop due to external factors. The causes are beyond the scope of this article. But let us consider the impact of these chromosomal and genetic abnormalities on male and female fertility.
Impact of Genetics on Male Infertility
- Klinefelter Syndrome: This condition occurs when a male has an extra X chromosome (XXY instead of XY). It can reduce sperm production, lower testosterone levels, and, in some cases, result in smaller testicles. Klinefelter Syndrome affects about 1 in 1,000 males.
- Y Chromosome Microdeletions: Sometimes, parts of the Y chromosome are missing, which can interfere with sperm cell development. Over time, this condition may reduce sperm production and affect fertility.
- CFTR Gene Mutations: Mutations in the CFTR gene are linked to cystic fibrosis. In some males, this causes the absence of the vas deferens, the tube that carries sperm from the testicles to the urethra, leading to infertility.
- Other Chromosomal Abnormalities: Various other genetic mutations and chromosomal abnormalities can directly affect sperm quality and quantity, making conception more difficult.
Impact of Genetic Conditions on Female Fertility & Pregnancy:
- Turner Syndrome: When part or all of one X chromosome is missing in females, it’s termed as Turner Syndrome. This condition leads to underdeveloped ovaries, often causing infertility.
- Fragile X Syndrome: This severe genetic condition can cause developmental delays and behavioral problems. For fertility, this syndrome is linked to premature ovarian failure, which may lead to early menopause in women.
- MTHFR Gene Mutation: A common genetic variation affecting the MTHFR enzyme. This mutation can disrupt hormone balance, cause ovulation problems, and increase the risk of pregnancy loss.
“These genetic issues don’t just impact fertility. They can also create complications during pregnancy. Problems with implantation, embryo development, or recurrent miscarriages are common in such cases.” says our fertility doctor in Hyderabad Dr Shalini Singh
Impact of Chromosomal and Genetic Disorders in Offspring:
Because a child inherits half of their chromosomes (23) from one parent and the other half (23) from the other parent, forming 23 pairs of chromosomes, they may inherit physical traits and genetic conditions from their parents.
In addition, genetic mutations or chromosomal abnormalities can also occur due to external factors like radiation, environmental toxins, or lifestyle choices.
Most importantly, there is a growing body of research suggesting that the age of the parents is closely related to the health of the child, with older parental age increasing the risk of genetic issues.
Way Ahead: How to Address Genetic Concerns in Fertility, Pregnancy, and Offspring
In summary, genetic disorders & infertility are closely related to one another. Chromosomal or genetic abnormalities can impair sperm quality and quantity, leading to male infertility. For women, genetic conditions can affect ovarian function, cause early menopause, disrupt hormonal balance, lead to implantation problems and ovulation issues, and even result in recurrent miscarriages.
At 9M Fertility, we use various advanced screening tools to identify, treat, and mitigate genetic conditions. Our genetic testing services include:
- Carrier Screening: This checks if either partner carries genes that may increase the risk of inherited conditions.
- PGT (Preimplantation Genetic Testing): For couples undergoing IVF, this test identifies possible genetic abnormalities in embryos before implantation.
If you’re a couple planning parenthood, we strongly recommend consulting with our fertility specialists. Through genetic counseling and advanced testing, we can identify potential risks early and pave the way for a successful and healthy journey to parenthood. Contact 9M Fertility today to learn more.
Now that we have helped you understand the role of genetics in male and female fertility & pregnancy, it is quite common to have questions on this topic. So, to help couples understand better, we have picked out the most common questions posed by couples at our IVF fertility clinic in Hyderabad and answered them here.
