Today is World IVF Day: IVF and Genetic Testing – Essential Insights

In the realm of assisted reproductive technologies, In Vitro Fertilization (IVF) and genetic testing have emerged as powerful tools to facilitate conception and also provide valuable insights into the genetic health of embryos, thus offeringhope and clarity to couples facing infertility challenges.

IVF coupled with PGT- Pivotal solution:

While IVF addresses the physical hurdles to conception, genetic testing enhances the process by providing critical insights into the genetic health of embryos.Preimplantation Genetic Testing (PGT) serves as a powerful tool in assisted reproductive technology, providing crucial genetic information about embryos before they are implanted. This screening helps identify embryos that are chromosomally normal (PGT-A) or free from specific genetic disorders (PGT-M), thereby reducing the risk of miscarriage and increasing the chances of a successful pregnancy and healthy child.

The primary indications for PGT can be categorized into two main purposes: screening for chromosomal abnormalities (PGT-A) and screening for specific genetic disorders (PGT-M). Here’s a detailed look at these indications:

1. PGT-A (Aneuploidy Screening):

Aneuploidy refers to an abnormal number of chromosomes in an embryo, which can lead to conditions like Down syndrome (Trisomy 21) or Turner syndrome (Monosomy X). PGT-A is primarily used to screen embryos for these chromosomal abnormalities. The main indications for PGT-A include:

• Advanced Maternal Age: Women over the age of 35 have an increased risk of producing embryos with chromosomal abnormalities. PGT-A helps identify embryos with the correct number of chromosomes, improving the chances of successful implantation and reducing the risk of miscarriage.

• Previous Miscarriages: Recurrent miscarriages may be caused by chromosomal abnormalities in embryos. PGT-A can help identify chromosomally normal embryos for transfer, potentially reducing the risk of miscarriage.

• Repeated IVF Failure: In cases where multiple IVF cycles have not resulted in pregnancy, PGT-A can identify if embryos transferred in previous cycles were chromosomally abnormal, guiding future treatment decisions.

2. PGT-M (Monogenic/Single Gene Disorders):

PGT-M is used when prospective parents carry a known genetic mutation that could result in a specific inherited disorder in their offspring. The main indications for PGT-M include:

• Known Genetic Mutation: Couples who are carriers of genetic disorders such as cystic fibrosis, sickle cell disease, Huntington’s disease, or thalassemia may opt for PGT-M to ensure that only embryos without the genetic mutation are transferred.

• Family History of Genetic Disorders: Families with a history of a specific genetic disorder may choose PGT-M to prevent passing the disorder to future generations.

• Previous Child Affected by a Genetic Disorder: If a couple has a child affected by a genetic condition, they may opt for PGT-M in subsequent pregnancies to avoid having another child with the same disorder.

Additional Considerations for prospective parents:

• Ethical and Counseling Considerations: The decision to undergo PGT involves ethical considerations related to embryo selection, potential discarding of embryos, and the beginning of life. Genetic counseling is often recommended to help prospective parents understand the implications of PGT results and make informed decisions.

• Cost and Accessibility: PGT can be costly, and accessibility may vary depending on geographical location and healthcare coverage. Prospective parents should consider these factors when deciding whether to pursue PGT.

Conclusion:

PGT plays a crucial role in assisted reproduction by providing valuable genetic information about embryos before implantation. It offers couples facing infertility or genetic concerns the opportunity to increase the likelihood of a healthy pregnancy and reduce the risk of passing on genetic disorders to their children. As technology and ethical frameworks continue to evolve, PGT remains a significant advancement in reproductive medicine, offering hope and empowerment to prospective parents worldwide.

(The write is a Consultant - Infertility, DGO (Reproductive Medicine), BirthRight Fertility by Rainbow Hospitals, Hyderabad)