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Genetic Testing: PGD & PGS

Preimplantation Genetic Diagnosis (PGD) and Preimplantation Genetic Screening (PGS) assess embryos for genetic abnormalities before transfer.

PGD and PGS are techniques whereby cells are removed from the embryo around day 3 or day 5 of its development. Genetic information is then extracted from these cells to assess genetic abnormalities in the embryos. This procedure is offered to patients who have a genetic condition or family history of genetic abnormalities that may be passed onto their baby, or to patients with recurrent miscarriages.

What is PGS?

Optionally conducted as a part of IVF treatment, PGS tests embryos for abnormalities in chromosome count. Chromosomal abnormalities can lead to miscarriage or conditions such as Down’s syndrome. If abnormalities are detected, a successive IVF cycle can be conducted and newly tested. PGS can also be utilised for those with family-balancing desires. With PGS, parents-to-be can trust in the health of their baby before implantation.

What is PGD?

PGD can likewise be conducted during IVF treatment and tests for particular gene defects that are known to cause specific diseases or genetic disorders. These are usually diseases or disorders that one of the parents or a close family member is known to carry, and which could be passed down to the child, such as cystic fibrosis or sickle cell anaemia. If any defects are identified, you have the option to undergo a successive IVF cycle and retest the embryos.

Who is a candidate for PGS?

Common factors that make PGS a good choice are:

  • Females aged 35 years or older
  • Families who are interested in single embryo transfer
  • Those seeking gender selection (family balancing)
  • Recurrent miscarriage
  • History of repeated IVF embryo implantation failure
Who is a candidate for PGD?

You may want to consider PGD if you or your partner meet any of the following criteria:

  • Individuals or couples who carry a particular genetic disease (e.g. haemophilia, cystic fibrosis, muscular dystrophy)
  • A close family member carries or carried a specific genetic abnormality
  • Ethnic predisposition to certain genetic disorders (e.g. sickle cell anaemia, thalassaemia, Tay-Sachs disease)

The steps of genetic testing (PGS/PGD)

Both PGS and PGD genetic testing are conducted as a part of IVF treatment and include the following basic steps:

  1. Embryos are produced through IVF treatment.
  2. A small sample of cells is biopsied from each embryo.
  3. The cell sample is analysed for any genetic or chromosomal abnormalities.
  4. Embryos that test negative for abnormalities are then transferred to the woman’s uterus.

The process is harmless to the embryos, and you can rest assured that we utilise the latest technologies and best practices to ensure optimal results. Your comfort and education are very important to us, so we will discuss the exact procedure in detail during your consultation.

Comprehensive Chromosome Screening (CCS)

Comprehensive Chromosome Screening (CCS) is a method of selecting high-quality embryos for in vitro fertilisation (IVF) that allows for higher implantation and pregnancy success rates than traditional screening. This state-of-the-art procedure enables embryologists to select the most viable embryos for transfer, so couples using IVF can expect an even higher chance of conception. While older methods of screening involved obtaining a biopsy of cells at an early embryo stage, CCS allows chromosomes to be tested at a later stage with nearly 99% accuracy. This leads to increased IVF success rates, fewer IVF cycles needed, and overall higher patient satisfaction.

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