The role of genetic testing in IVF: A guide for aspiring parents

by Sofia Arvanitidou, last updated 07 Jul 2025,

4 min read

Starting a family is a profound journey, and for many, In Vitro Fertilization (IVF) offers a path to parenthood. IVF is a remarkable medical procedure where an egg is fertilized by sperm outside the body, in a laboratory setting, to create an embryo, which is then transferred to the uterus. While IVF has revolutionized fertility treatment, a common question that arises is: how can we maximize the chances of a healthy pregnancy? This is where genetic testing in IVF steps in, offering invaluable insights and hope.

At Newlife, we believe in empowering you with knowledge. So, let's explore what genetic testing in IVF entails and how it can play a crucial role in your fertility journey.

What is genetic testing in IVF?

Imagine being able to get a clearer picture of an embryo's genetic health before it's even transferred. That's essentially what genetic testing in IVF, often referred to as Preimplantation Genetic Testing (PGT), allows us to do. It involves analyzing a few cells from an embryo created through IVF to check for certain genetic conditions or chromosomal abnormalities. This testing is performed in a specialized lab while the embryos are safely developing.



Why is PGT important?

The main goal of PGT is to help identify the healthiest embryos for transfer, increasing the likelihood of a successful pregnancy and a healthy baby. Here's how it can make a difference:

Reducing the Risk of Miscarriage: A significant number of miscarriages are due to chromosomal abnormalities in the embryo. PGT can help identify embryos with the correct number of chromosomes, significantly reducing the risk of early pregnancy loss.
Increasing IVF Success Rates: By selecting chromosomally normal embryos, PGT can improve the chances of successful implantation and a healthy ongoing pregnancy, potentially reducing the number of IVF cycles needed.
Preventing the Transmission of Genetic Disorders: If you or your partner are known carriers of a specific genetic disease (like cystic fibrosis, thalassemia, or Huntington's disease), PGT can screen embryos for that particular condition, allowing you to choose embryos free from the disorder.
Insights into Implantation Failure: For couples who have experienced recurrent IVF failures, PGT can provide answers by revealing if chromosomal issues in the embryos were a contributing factor.
Reducing the Chance of Chromosomal Syndromes: PGT can help identify embryos with conditions like Down syndrome (Trisomy 21), Edwards' syndrome (Trisomy 18), or Patau's syndrome (Trisomy 13) before implantation.

Types of genetic testing in IVF

There are a few main types of PGT, each designed to look for different genetic concerns:

PGT-A (Preimplantation Genetic Testing for Aneuploidy): This is the most common type of PGT. It screens embryos for the correct number of chromosomes. Humans typically have 46 chromosomes (23 pairs). Embryos with missing or extra chromosomes (aneuploidy) often don't implant, lead to miscarriage, or result in conditions like Down syndrome. PGT-A helps us select embryos with a normal set of chromosomes.
PGT-M (Preimplantation Genetic Testing for Monogenic/Single Gene Defects): If there's a known single-gene disorder that runs in your family, PGT-M can specifically test embryos for that particular genetic mutation. This allows for the selection of embryos unaffected by the condition.
PGT-SR (Preimplantation Genetic Testing for Structural Rearrangements): This testing is for individuals or couples who carry a structural rearrangement in their chromosomes (like a translocation or inversion). These rearrangements can lead to embryos with missing or extra pieces of chromosomes, which can result in miscarriage or health issues in a child. PGT-SR helps identify embryos with balanced chromosome sets.

The Newlife Approach

At Newlife, we are committed to providing you with the most advanced and personalized fertility care. Our team of experts will guide you through every step of the IVF process, including a thorough discussion about genetic testing and whether it aligns with your family-building goals. We understand that this journey can be emotionally taxing, and we are here to offer support, information, and the latest technologies to help you achieve your dream of parenthood.

If you have questions about IVF or genetic testing, don't hesitate to reach out to us. We're here to help you navigate your path to a healthy, happy family.

Sofia Arvanitidou

Sofia Arvanitidou, BSc, MSc

Sofia is a Clinical Embryologist at the Newlife IVF Greece clinic.

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