When embarking on fertility treatment, many people feel overwhelmed by the options available. Today, we shine a light on PGT-A (pre-implantation genetic testing for aneuploidy – previously known as pre-implantation genetic screening).

What are aneuploidies? What is (PGT-A) Pre-implantation Genetic Testing for Aneuploidy? Can it reduce miscarriage? What diseases are detected with the PGT-A test? Is it necessary to start a fertility treatment to perform the test?

What are Aneuploidies?

Healthy human embryos (euploid) have 23 pairs of chromosomes.

In certain cases, alterations in the egg, the sperm or the embryo itself can result in embryos with an incorrect number of chromosomes; these abnormalities are called aneuploidy.

Most chromosomal abnormalities lead to miscarriages and the rest are associated with genetic diseases (such as Down’s Syndrome).

What is PGT-A?

Preimplantation Genetic Testing for Aneuploidies (PGT A) is a genetic test done on embryos created through IVF to screen for chromosomal abnormalities. PGT-A, formerly known as preimplantation genetic screening (PGS), is used to screen embryos for extra or missing chromosomes. Embryos with extra or missing chromosomes, referred to as aneuploid, often fail to implant and lead to miscarriage or, if implantation is successful, leads to the birth of a child with a genetic condition. Embryos found to be chromosomally normal are referred to as euploid and are the most likely to lead to a successful pregnancy.

The correct number of chromosomes (46) is required for the embryo to become a normal child.

PGT-A enables the examination of all 23 sets of chromosomes including X and Y in each embryo so that only normal embryos are chosen for transfer into the womb.

Example A: a pair of chromosome 21 is normal; while three chromosomes of 21 is Down’s Syndrome.

Example B: abnormalities of chromosome 23 include:

XO (abnormal girl – Turner’s Syndrome),

XXY (abnormal boy – Klinefelter’s) compared to

XX (normal girl) or

XY (normal boy)

Who is PGT-A for?

PGT-A is appropriate for the vast majority of IVF patients and is recommended for:

• Women who are over the age of 35 – with age, the percentage of aneuploidies increases exponentially, which is why it is very useful to have a PGT-A.
• Women who have experienced one or more pregnancy losses
• Women who have had a pregnancy with chromosomal abnormalities
• Women who have experienced unsuccessful IVF cycles
• Couples who want to balance the genders in their family
• Couples challenged by male infertility factor

Benefits of PGT-A

With PGT-A, embryos without any detectable missing or extra chromosomes are selected for transfer. PGT-A may:

• Increase the chances of implantation and pregnancy
• Reduce the risk of miscarriage
• Reduce the number of IVF cycles needed to achieve pregnancy
• Increase the chances of giving birth to a healthy baby

PGT-A offers the highest reliability of results among genetic tests. It is the best alternative to ensure that your baby is born healthy.

At Cell Genomics, you will find that from our science to our customer service, we do things differently. Working from our state of the art and fully accredited clinical genetics laboratory.

If you have any further questions regarding this technique, please do not hesitate to contact one of our specialists, who will be pleased to answer your questions.