Genetics

The studies of embryonic chromosome structure have shown that chromosomal abnormalities or monogenic diseases are the main causes of infertility. Examining the chromosomes of the embryo before transferred to the uterus can increase the success rates. 

When you become pregnant, you are likely to have a lot of questions about your baby. Thanks to non-invasive prenatal testing (NIPT), you can get the answers to most of them. You can find out if your baby is at risk of certain genetic conditions, such as Down's syndrome, using non-invasive prenatal testing (NIPT). 

PGT - Preimplantation Genetic Testing

Increase your chances of a healthy pregnancy by having your embryos genetically tested before they are transferred in your womb.

Understanding PGT (Preimplantation Genetic Test)

Preimplantation genetic testing (PGT) is genetic testing of embryos. PGT is performed during the IVF process. After a woman has undergone an egg retrieval procedure, the eggs are fertilized with a sperm to create an embryo. These embryos are grown in the laboratory until day 5 or 6, called the blastocyst stage. The embryo has about 100-200 cells when it reaches the blastocyst stage. At this stage, it is safe to have a biopsy of a few cells from each embryo. These cells are taken from the outer layer of the blastocyst that will develop into the placenta. The biopsy will not harm the future baby. The biopsied cells are sent to a laboratory for genetic testing. Embryos are frozen until results are returned in 7-10 days.
Three different genetic tests are available for embryos. While one of these genetic tests ensures that the embryo has the correct number of chromosomes (PGT-A), the other two tests identify which embryos carry a gene for a particular disease (PGT-M and PGT-SR).

PGT-A 

Preimplantation Genetic Testing for Aneuploidy is defined as PGT-A. Aneuploidy means an abnormal number of chromosomes, so this test looks for missing or extra chromosomes in the embryo. Each egg and sperm have 23 chromosomes, but when fertilized they combine to make an embryo with 46 chromosomes. If one of the chromosomes is missing, or there is an extra chromosome, this can lead to miscarriage or a failed IVF cycle.

This test is recommended for women who:

• have had several miscarriages or failed IVF attempts without explanation.
• are over 35. 
• are interested in family balance (PGT-A will also tell you the sex of each embryo). 

PGT-SR and PGT-M 

Testing for specific genetic conditions such as structural rearrangements (PGT-SR) or monogenetic (single gene) disorders (PGT-M). 

You may want to use PGT-SR or PGT-M if:

• You've had one or more abortions because your baby had a genetic condition.
• You already have a child with a serious genetic condition.
• You have a family history of a serious genetic condition.

Steps in the PGT Process

Step 1: Consultation and review
We put every patient on the best possible treatment plan, with the highest chance of success. As genetic testing is something we can do to in conjunction with ICSI, the first step will be a discussion between you and your fertility specialist about whether it might be beneficial for you. Your doctor will also advise you to have basic fertility testing and screening if you have not already done so, before giving you a personalized treatment plan.

Step 2: Embryo creation and testing
You’ll undergo a regular IVF cycle in which all good quality embryos will be frozen, as blastocyst. Just before the embryos are frozen, a small sample of cells will be removed (biopsied) from the outer layer of the embryo, known as the trophectoderm (this layer later develops into the placenta)

Step 3: Genetic analysis
The embryos are safely kept in cryogenic storage, while the biopsies are sent to our genetics laboratory for analysis. The turnaround time for results will depend on the test being performed. Once the results are ready, your doctor will discuss them with you. If there are suitable embryos for transfer, i.e. euploid embryos, your doctor will plan a Frozen Embryo Transfer (FET).

What is the cost of PGT?
Please see the full list of all our prices in the Treatment Fees section.
 

Non-invasive prenatal testing (NIPT)

Ensure your baby's chromosomal risk by testing NIPT. The test can also determine the sex of the fetus. This is done by taking a sample of your blood, which will also contain fragments of the DNA of the fetus. DNA consists of a person's genes and chromosomes and gives healthcare providers an insight into the genetic composition of your baby.