Genetic Testing In Fertility: Pre-Implantation Genetic Testing (PGT)

genetic testing

The journey to parenthood can be a challenging one, especially for couples who face the burden of genetic disorders or chromosomal abnormalities. Luckily, advancements in medical technology have revolutionized the field of fertility treatment, offering hope to couples struggling with infertility. Among these breakthroughs, genetic testing has emerged as a powerful tool to help ensure healthy pregnancies and the birth of healthy babies. 

Pre-Implantation Genetic Testing

Pre-implantation Genetic Testing (PGT) is a significant technique that involves genetic testing of the embryo for chromosomes and/or specific known genetic disorders. Here at Island Reproductive Services, we are pleased to offer this medical technology to help you start planning your future and achieve your parenting dreams. Some patients are worried that a PGT biopsy may harm the embryo. At Island Reproductive Services, we only biopsy the embryo once cells are “hatching out.” That allows us to avoid going into the embryo to perform the biopsy thus avoiding any potential harm to the embryo.

What Is The PGT Process?

Pre-Implantation Genetic Testing is used to assess the genetic health of embryos before they are implanted in the uterus. The PGT process typically follows these steps:

  1. Ovarian Stimulation and Egg Retrieval: The woman undergoes ovarian stimulation to produce multiple eggs, which are then retrieved.
  2. Fertilization: The retrieved eggs are fertilized with sperm in a laboratory setting, usually through IVF.
  3. Embryo Development: The fertilized eggs develop into embryos over a few days.
  4. Embryo Biopsy: A few cells are carefully removed from each embryo for genetic analysis. This process does not harm the embryo’s overall development since we only biopsy cells as they are extruded out of the embryo..
  5. Genetic Analysis: The extracted cells undergo genetic testing to identify chromosomal abnormalities or specific gene mutations, depending on the type of PGT being performed.
  6. Embryo Selection: Based on the results of the genetic analysis, our doctors choose the embryo that is most suitable for implantation.
  7. Embryo Transfer: The selected embryo is transferred into the woman’s uterus for potential implantation and pregnancy.

What Can Embryos Be Tested For?

Usually, at the blastocyst stage, embryos are genetically tested by removing a few cells from the outside of each embryo. Embryos are frozen, and the cells are sent to a specialized genetic laboratory for analysis. Embryos can be tested for the following:

  1. Chromosomes: Chromosome errors can occur randomly in any egg or sperm. Errors are more likely to occur in eggs and increase with a woman’s age.  Even in women at age 35, approximately 50% of eggs are chromosomally abnormal. Errors can involve an entire chromosome or part of a chromosome.
  2. Structural abnormalities: Some men and women carry chromosome abnormalities that may be passed along to their children. These are usually translocations and often lead to infertility, miscarriages, or an affected child.
  3. Genetic diseases: Some families may have a known genetic disease in family members. A man or a woman may have the disease or may carry an abnormal disease mutation. These include autosomal recessive diseases (both the egg and sperm must carry the mutation to cause the disease in a child), autosomal dominant diseases (if either the egg or sperm carries the mutation, a child has a 50% chance of getting the disease), or X linked (usually passed along from the eggs of a woman who carrier the abnormal mutation).

PGT genetic testing offers numerous benefits to couples seeking to have healthy children. It allows for the identification and selection of embryos with the best chance of successful implantation and development, reducing the risk of miscarriages and genetic disorders.

Work With Island Reproductive Services 

Pre-Implantation Genetic Testing (PGT) represents a remarkable stride in fertility treatment, providing hope to couples grappling with genetic risks and disorders. The ability to screen embryos for specific gene mutations before implantation significantly enhances the chances of healthy pregnancies and births. 
Our team at Island Reproductive Services is here for you through the process. We have resources and information that can help you make decisions. Are you interested in scheduling a consultation with our team? Check out our website or give us a call for more information.