Chromosomes are complex structures composed of DNA and proteins, located within the nucleus of cells. Chromosomes contain genes which are segments of DNA that encode for proteins that are needed for growth, development and physiological function. This genetic information passes from parents to offspring and plays a key role in determining individual traits and characteristics. In humans, the normal chromosomal complement consists of 46 chromosomes, with 23 inherited from each parent through sperm and egg cells. These chromosomes are arranged into 23 pairs, consisting of 22 pairs of autosomes and 1 pair of sex chromosomes. However, when the normal number of chromosomes is altered, this is known as aneuploidy and may result in genetic disorders and developmental abnormalities.
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What is it?
Preimplantation Genetic Testing for Aneuploidy, PGT-A, is a genetic screening technique that is performed in conjunction with in vitro fertilisation (IVF) to screen embryos for the correct number of chromosomes. Aneuploidy, which refers to an abnormal number of chromosomes, can result in implantation failure or developmental abnormalities if an affected embryo is transferred to the uterus. PGT-A identifies embryos with the normal chromosomal complement, thereby increasing the chances of a successful pregnancy and lowering the risk of certain genetic conditions. Aneuploidies occur when there is an abnormal number of chromosomes in the egg or sperm and can result in conditions such as Down syndrome (trisomy) or Turner syndrome (monosomy). These chromosomal abnormalities may lead to implantation failure, miscarriage, foetal loss, or developmental disorders in newborns.
*Please note that this test must be ordered by your reproductive specialist.
Who's it for?
Testing for aneuploidy is considered for individuals or couples undergoing in vitro fertilisation (IVF) in the following circumstances:
1) Advanced maternal age
2) History of recurrent miscarriages
3) Failed IVF cycles or implantation failure
4) Unexplained infertility
5) Known genetic predisposition to chromosomal abnormalities.
It is well documented that the risk of chromosomal abnormalities increases with advancing maternal age. With regards to Down syndrome, the risk of giving birth to a new-born with this condition is 1 in 2,000 at the age of 20, 1 in 900 at the age of 30, and 1 in 100 at the age of 40. Therefore PGT-A is recommended for women who are over 35 years of age. However, it is important to note that there is still a high incidence of babies born with Down syndrome to mothers who are under 35 years of age. As a result, individuals or couples may choose to include PGT-A as part of their IVF treatment to support the likelihood of a successful pregnancy outcome. Ultimately, the decision to include PGT-A as part of your IVF treatment plan should be made in consultation with your fertility specialist, taking the above factors into account.
When is it done?
PGT-A is facilitated through your fertility clinic, requiring your doctor to initiate the testing process. PGT-A is also performed in conjunction with PGT-M, which is used to screen for monogenic disorders. Following IVF, embryos are cultured in the laboratory for approximately five to six days until they reach the blastocyst stage. At this stage, an experienced embryologist carefully removes a small number of cells from the trophectoderm, the outer layer of cells destined to form the placenta. This biopsy procedure carries minimal risk to the embryo and does not interfere with its continued development.
The biopsied cells will then be sent to FutureGen laboratories for PGT-A analysis. On completion, the test results are sent to your referring doctor. Only euploid embryos, those with the correct number of chromosomes, are considered suitable for transfer into the uterus during an IVF cycle.
How does it work?
Embryos with chromosomal abnormalities cannot be identified using standard microscopy, requiring specialised genetic testing methods. PGT-A is a cutting-edge genetic technique utilised to screen embryos for chromosomal abnormalities. At FutureGen Labs, we are committed to excellence, utilising state-of-the-art technology and ethical practices. Our goal is to provide patients with comprehensive information, empowering them to make an informed decision in their fertility journey. Integrating PGT-A into the IVF process prior to embryo implantation holds the potential to enhance the likelihood of having a successful IVF outcome. Once the data is analysed, the results are sent to your referring doctor, and genetic counselling may be recommended based on the findings.
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What is PGT-A?