The Crucial Role Of Genetic Testing And Genetic Counselling In IVF
As IVF becomes increasingly intertwined with genomics, the need for ethical, empathetic, and informed genetic counselling becomes ever more critical
Advancements in reproductive healthcare have helped many couples realize their dream of parenthood. Among these innovations, in vitro fertilization (IVF) has become a widely used approach. IVF is an assisted reproductive technology where an egg and sperm are fertilized outside the body.
As our understanding of reproductive science has evolved, so has our knowledge of the genetic factors that can influence fertility outcomes. This growing insight has made genetic testing and counselling an increasingly important part of the IVF journey, helping couples make informed choices at every step.
This World IVF Day, as we understand the life-changing potential of IVF, Dr GK Madhavilatha, Principal Genetic Counsellor, MedGenome helps us explore the crucial role of genetic testing and counselling in the IVF journey.
Why Genetic Testing is important in IVF
Incorporating genetic testing in the IVF journey not only significantly improves the chances of a healthy pregnancy but also makes pregnancy care more personalised. However, it is essential to remember that genetic testing is not a tool to engineer or design babies. It is about reproductive efficiency, not perfection.
• Reduce the Risk of Miscarriage
Chromosomal abnormalities are a leading cause of miscarriage. In case of such anomalies, using preimplantation genetic testing for aneuploidies (PGT-A) in the IVF process can help select embryos with the correct number of chromosomes, improving implantation rates and reducing miscarriage risk, particularly for women over 35 or couples with recurrent pregnancy loss, thus enhancing the chances of a successful pregnancy.
• Diagnose Structural Rearrangements
Couples with known structural chromosome rearrangements face a high risk of miscarriage or affected offspring. In such cases, preimplantation genetic testing for structural rearrangement (PGT-SR) helps identify embryos with numerical and structural aberrations.
• Informed Decisions and Personalized Treatment
With clear genetic information, couples can make informed choices about embryo transfer, prenatal testing, or alternative reproductive options. Understanding their genetic risks allows for more tailored IVF protocols and postnatal care.
Role of Genetic Counselling: Beyond the Test
Genetic tests are only as meaningful as the interpretation they receive. This is where genetic counselling becomes crucial. Genetic counsellors offer couples expert guidance about the implications of genetic testing, help couples understand their results, and explain the available reproductive options. Beyond medical understanding, they also provide support to couples coping with the emotional aspects of uncertain or difficult results and the complexities associated with reproductive decisions. Genetic counsellors serve as neutral facilitators and not decision-makers. Their role is to support autonomy, not steer choices.
The Power of Genetic Information
A couple in Delhi had lost three pregnancies. Antenatal scans showed that each baby had abnormal kidneys, but the exact cause was unknown. MedGenome's carrier screening test identified a disease-causing variation in a specific gene that both partners carried, causing a lethal kidney disease in the foetuses. This gene mutation was identified as a founder mutation originating from a specific community.
Following the diagnosis, the couple received genetic counselling, where they were explained about the condition and guided on the reproductive options available for them. They then opted for ART-IVF, during which embryo biopsies were sent for genetic testing, helping select the embryos free of the condition for implantation. Today, the couple has a healthy baby.
This case illustrates the deep and meaningful impact that genetic testing and counselling have on the lives of people.
When should a couple consider Genetic Testing and Counselling in IVF?
Couples should opt for genetic testing at different times in their pregnancy planning journey. When combined with genetic counselling, this helps them understand risks and plan better. Here's when genetic testing and counselling are typically recommended:
• Before starting IVF for preconception carrier screening
• Couples with a known personal history or family history of genetic disorders
• Couples who have a history of recurrent miscarriages or failed IVF cycles
• When a couple is considering PGT-A or PGT-M
• Couples in a consanguineous (related by blood) marriage
Looking Ahead: Genetics with Compassion
As IVF becomes increasingly intertwined with genomics, the need for ethical, empathetic, and informed genetic counselling becomes ever more critical. Genetic information is powerful, but without guidance, it can be confusing or even distressing. Couples deserve support that honours both the science and the deeply human nature of reproductive choices. Genetic counselling is about empowering people with knowledge, choice, and support in one of the most personal journeys of their lives.
If you're a couple navigating IVF, consider speaking with a certified genetic counsellor early in your journey. The insight may not only enhance your outcomes; it may bring peace of mind in an otherwise complex process.
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Swati Chaturvedi
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