De-linking the hidden keys of genetics and infertility

Anusree Singapur

When couples struggle to conceive, factors like age, stress, or medical conditions such as PCOS and endometriosis are often blamed. While these are valid concerns, the real reason is sometimes hidden much deeper — in our genes. Studies show that inherited and chromosomal factors silently influence reproductive health, making conception difficult for some couples despite normal reports.

Genes and Female Fertility

For women, genetic factors can disrupt various stages of reproduction that is from egg formation to embryo development. Chromosomal abnormalities may prevent ovulation, interfere with implantation, or lead to repeated pregnancy loss. Genetic conditions such as Turner syndrome, that is when one X chromosome is missing, and chromosomal translocations are classic examples that reduce fertility potential in women.

Age compounds the risk; beyond 35, chromosomal errors in eggs rise sharply, reducing the chances of a healthy pregnancy, the likelihood of chromosomal errors in eggs increases abruptly. This leads to drop in chances of a healthy pregnancy declining significantly with age.

Male Infertility and Genetic Factors

Female infertility isn’t the only one influenced by genetics. A large proportion of unexplained male infertility also has genetic roots. One common cause is Y-chromosome microdeletion, where missing segments of the Y chromosome lead to severely reduced or absent sperm production. Another important factor is chromosomal translocations — rearrangements of genetic material between chromosomes — which can cause abnormal sperm formation, failed fertilization, or recurrent pregnancy loss in couples.

Another example is certain cystic fibrosis mutations cause congenital absence of the vas deferens — the tube that carries sperm — so sperm production is normal, but delivery is blocked. Many times, these genetic disorders remain undiagnosed until couples have a complete fertility evaluation.

Understanding the Importance of Genetic Testing

The boon of today’s era is the advancements in reproductive medicines and technologies, these hidden factors can now be identified easily using technology. Couples with repeated miscarriages, failed IVF cycles, or unexplained infertility are often advised to undergo genetic testing. Because such tests can help to detect chromosomal rearrangements, inherited disorders and sperm/egg-related genetic abnormalities.

Preimplantation Genetic Testing (PGT) provides further assurance to couples contemplating in-vitro fertilization (IVF).  In this case, embryos are screened prior to transfer, increasing the likelihood of a healthy pregnancy and lowering the possibility of major genetic disorders being passed on.  Many families who might have otherwise struggled to become parents for years without answers now have hope thanks to this scientific process.

Why Genetic Counseling is Important

Although the findings of fertility tests can occasionally be complex or emotionally challenging to understand, they do provide useful information.  At this point, genetic counselling becomes essential.  In addition to discussing the consequences for future pregnancies, counsellors assist couples in understanding their reports and exploring tailored choices.

It would mean proceeding with IVF and PGT, IUI, donor eggs or sperm that may offer the safest route to parenthood. Counselling has the advantage of ensuring that couples make decisions based on knowledge and assurance rather than uncertainty or fear.

Infertility and Mental Health

Infertility is not just a medical challenge, in India it is still counted under societal stigma leading to emotional breakdown. Discovering that genes play a role can be overwhelming for couples already under pressure. Support, empathy, and clear guidance are as important as the medical interventions themselves. Fertility specialists, genetic counselors, clinical nutritionists  and mental health professionals working together can help couples navigate this journey with greater strength and clarity.

Genetics may be an invisible factor in many infertility cases, but it is not an insurmountable one. Advances in testing, counseling, and fertility treatments have opened options to identify problems early, reduce risks, and improve outcomes. The key lies in awareness, couples struggling with unexplained infertility must know that answers often exist beyond routine investigations. The mixture of science with compassion, designed reproductive medicine today as a miracle where none seemed possible even a decade ago.

Anusree Singapur, Genetic Counselor, Milann Fertility Hospital, Bengaluru