IVF can prevent genetic disorders from being passed to offspring, here's how

Can In vitro fertilisation (IVF) technology be used to avoid passing genetic disorders to one's children? Medical science says yes. With the advent of advanced fertility technology, couples are now empowered to make informed choices about embryo implantation, significantly lowering the risk of passing on genetic disorders.

In recent years, IVF has revolutionised reproductive medicine by offering parents the chance to provide their children with better life prospects. Experts reveal that through sophisticated techniques, potential parents can screen embryos for chromosomal abnormalities and hereditary conditions before implantation.

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Diseases such as hemoglobinopathies, thalassemia and certain types of muscular dystrophies can now be effectively eradicated through meticulous genetic screening. To dig deeper, Midday.com consulted Dr Kshitiz Murdia, CEO and Co-founder of Indira IVF and Dr Avantika Ramchandra Vaze-Fertility consultant Nova IVF Fertility Vashi who shared with us how genetic markers and chromosomal errors can be corrected during conception.

Edited excerpts from the interview

How does IVF help in preventing genetic disorders from being passed on to offspring? Could you explain the mechanisms involved?
Kshitiz: IVF can significantly reduce the risk of passing genetic disorders to offspring through a method called Preimplantation Genetic Testing (PGT). This advanced technique allows doctors to screen embryos for genetic abnormalities before they are implanted in the uterus. By selecting embryos that are free from specific genetic conditions or chromosomal issues, the chances of genetic diseases in future children are greatly minimized.

In this process, eggs and sperm are combined in a laboratory to create embryos. At a certain stage of development, a few cells are gently removed from each embryo. These cells are then tested for various genetic disorders and chromosomal abnormalities. This testing is particularly useful for couples with a history of genetic disorders or miscarriages, as it helps ensure the embryo transferred to the uterus is healthy.

Preimplantation genetic testing involves two main types: Preimplantation Genetic Screening (PGS) and Preimplantation Genetic Diagnosis (PGD). PGS screens embryos for chromosomal issues, ensuring they have the correct number of chromosomes, while PGD examines embryos for specific genetic conditions or single gene defects known to be present in one or both parents. Before proceeding, fertility specialists analyse the genetic history and other factors to increase the likelihood of having a healthy child. This comprehensive approach helps avoid or eliminate the risk of undesired genetic traits and chromosomal abnormalities, giving hopeful parents a better chance at having a healthy baby.

Avantika: In vitro fertilisation (IVF) is a pivotal tool when it comes to preventing genetic disorders by doing preimplantation genetic testing (PGT) which helps to check embryos created via IVF for specific genetic mutations before implantation in the uterus. Experts can look for chromosomal abnormalities or certain hereditary conditions that could be passed on to the offspring by monitoring the embryo's DNA. Couples can make informed choices regarding embryo implantation and lower the risk of genetic disorders like cystic fibrosis or Tay-Sachs disease in babies. The mechanism behind this is the use of next-generation sequencing and multiplex PCR for choosing the right embryos.

What are the most common genetic disorders that are typically targeted for prevention through IVF?
Kshitiz: IVF can play a vital role in preventing the transmission of various genetic conditions, offering hope to parents who wish to have healthy children. Here are some of the genetic disorders that can be avoided through this process:

Cystic Fibrosis: This life-threatening disorder affects the lungs and digestive system, leading to severe respiratory and digestive issues. By screening embryos, parents can reduce the risk of having a child with this debilitating condition.

Tay-Sachs Disease: A fatal genetic disorder that destroys nerve cells in the brain and spinal cord. Children with Tay-Sachs experience a relentless decline in physical and mental abilities. Preimplantation genetic testing can help identify and exclude embryos carrying this disorder.

Sickle Cell Anemia: This group of inherited red blood cell disorders causes the cells to become rigid and shaped like sickles, leading to pain, infections, and potential organ damage. IVF can help in selecting embryos without this condition, ensuring healthier blood cells.

Thalassemia: A blood disorder characterized by the body making an abnormal form of hemoglobin, leading to anemia and fatigue. By using genetic testing during IVF, parents can avoid passing this disorder to their offspring.

Huntington's Disease: This progressive brain disorder causes the breakdown of nerve cells, affecting movement, cognition, and mental health. Screening embryos for Huntington's can prevent the transmission of this devastating condition to future generations.

What are some of the ethical dilemmas associated with using IVF and genetic screening to prevent genetic disorders?
Kshitiz: IVF and genetic screening are powerful medical technologies that can help prevent serious genetic disorders and allow couples with fertility challenges to have healthy children. When used responsibly, these techniques offer immense benefits to families and society.

The primary goal of using genetic screening with IVF is to prevent devastating genetic diseases that can cause immense suffering. This allows parents who are carriers of genetic disorders to have children without passing on serious health conditions. The focus is on screening out severe medical issues, not selecting for cosmetic or non-health-related traits.

It's important to distinguish this medical use from scenarios about "designer babies." The current technology and regulations are centered on disease prevention, not enhancement or selection of traits like intelligence or appearance. Ethical guidelines and laws in most countries prohibit using these techniques for non-medical purposes.

Avantika: Ethical dilemmas associated with IVF and genetic screening include concerns about 'designer babies' and the selection of traits. The primary aim of genetic testing is to predict the risk of developing diseases and to prevent their transmission to progeny. These tests should be used as per clinical requirements following the guidelines of the regulatory body of the respective country. It is crucial to maintain ethical standards and ensure that the technology is used responsibly.

How do legal regulations play a role in the use of IVF and genetic screening for preventing genetic disorders? Are there any notable differences?
Kshitiz: Legal regulations are essential in the use of IVF and genetic screening to prevent genetic disorders, particularly in India, where specific laws oversee assisted reproductive technologies (ART). These regulations ensure ethical practices, protect individual rights and address concerns related to genetic testing and embryo selection.

The Assisted Reproductive Technology (Regulation) Act, 2021, provides a comprehensive framework for regulating ART services, including IVF and preimplantation genetic testing (PGT). This act mandates that genetic testing can only be used to screen embryos for known, heritable, or genetic diseases. By restricting genetic testing to medical purposes, the law aims to prevent the misuse of this technology for selecting non-medical traits, thus addressing ethical concerns about "designer babies."

Additionally, the act establishes the National Assisted Reproductive Technology and Surrogacy Board, which oversees ART practices to ensure compliance with ethical standards and regulations. This board is responsible for registering ART clinics and banks, monitoring their operations, and ensuring they adhere to the legal requirements. This regulatory framework ensures that ART services in India are conducted responsibly and ethically, safeguarding the interests of all parties involved.

Can the use of IVF and genetic screening raise concerns about potential discrimination or social implications, such as societal pressure to avoid certain genetic conditions?
Kshitiz: While it's important to consider all perspectives, the use of IVF and genetic screening for preventing genetic disorders is fundamentally about improving health outcomes and reducing suffering. When viewed in this light, these technologies offer significant benefits to individuals, families and society as a whole.

The primary goal of genetic screening in IVF is to prevent severe, life-threatening or debilitating genetic conditions. This focus on serious medical issues helps families avoid passing on disorders that could cause immense suffering or drastically reduce quality of life. It's crucial to understand that this technology is not about creating "perfect" babies or discriminating against individuals with disabilities, but rather about giving parents the option to reduce the risk of specific, severe genetic disorders.

In practice, genetic screening is used to identify embryos that do not carry particular genetic mutations associated with serious diseases. This allows couples who are carriers of these mutations to have children without passing on the condition.

It's worth noting that the use of these technologies is entirely voluntary. No one is compelled to undergo genetic screening or IVF. Instead, it provides an option for those who choose to use it, often after careful consideration and genetic counseling. This respect for reproductive autonomy is a key ethical principle in the application of these technologies.

Also read: How does IVF help men in overcoming infertility?