Overview
Preimplantation Genetic Diagnosis (PGD )is a technology to perform genetic testing on embryos for serious genetic or chromosomal abnormalities to ensure selection of a ‘normal’ (or unaffected embryo) prior to implantation and before pregnancy occurs. Undertaken in conjunction with IVF means only those embryos diagnosed as being unaffected or free of a specific genetic disorder will be transferred to a woman for the best IVF success rate and a pregnancy.
There are many preimplantation genetic diagnosis pros and cons you’re your fertility specialist will discuss these with you. Overall PGD has many advantages for a couple where they would find it hard to consider terminating an affected pregnancy after prenatal diagnosis at a later stage of pregnancy.
Our state of the art scientific laboratories in Sydney work in conjunction with our sister clinic Melbourne IVF and their world renowned Preimplantation Genetic Diagnosis laboratory lead by Dr Leeanda Wilton, Director of Preimplantation Genetics for our Group and a pioneer in the field of Preimplantation Genetic Diagnosis. This collaboration provides patients the most advanced technology and access to the expertise and skill of Australia’s leading Preimplantation Genetic Diagnosis team and the IVFAustralia Fertility team.
With modern technology we can now screen for almost any single gene disorder, and new conditions are being introduced all the time. Within a period of as little as a couple of months a test can be designed for couples with inherited diseases and unique gene mutations.
Q. What is preimplantation genetic diagnosis?
Preimplantation genetic diagnosis pgd is a genetic testing procedure where a cell from the embryo can be tested for genetic and chromosomal abnormalities prior to placement into the uterus. it is the earliest form of prenatal diagnosis screening carried out on a laboratory-created embryo.
one or two cells are removed from a day 3 embryo and tested for conditions such as cystic fibrosis and down syndrome.
the embryos are tested in a number of different ways, depending on the particular condition being investigated.
the aim of preimplantation genetic diagnosis is to prevent embryos that are carrying a genetic or chromosomal abnormality from being transferred into the uterus. at this point, preimplantation genetic diagnosis is helpful if a couple has an increased risk of having a child with a specific genetic disorder, such as cystic fibrosis, down syndrome or turner’s syndrome.
Q. Who should consider Preimplantation Genetic Diagnosis PGD?
Preimplantation Genetic Diagnosis PGD is very valuable in identifying whether a particular embryo is carrying known hereditary conditions.
People who have a family history or a known serious genetic condition, or who are at a higher risk of having chromosomal abnormalities in their embryos may consider Preimplantation Genetic Diagnosis, for example:
- People with a family history of inherited genetic conditions such as: haemophilia, thalassaemia, cystic fibrosis and are at risk of having a child with such conditions
- People with a known history of balanced translocation (a chromosome rearrangement) in either partner Those with previous chromosomal abnormality in a pregnancy
- Women over 38 years of age seeking to conceive (usually test for Down syndrome)
- Those who have experienced recurrent miscarriage (repeated early pregnancy loss) OR
- Implantation failure (repeated IVF cycles and embryo transfers without pregnancy)
Q. How is PGD Performed?
At IVFAustralia, genetic counselling is provided to people considering Preimplantation Genetic Diagnosis. This is to ensure the appropriate time is taken to consider all of the implications of Preimplantation Genetic Diagnosis.
The woman will undergo an In Vitro Fertilisation Intracytoplasmic sperm injection procedure (ICSI) involving ovarian stimulation to allow collection of multiple eggs. Fertilisation is then carried out by ICSI.
Three days after fertilisation, one or more cells are removed from the embryo. These cells are analysed for a specific inherited disorder or chromosome abnormality. Results are available on Day 5 following fertilisation and only healthy embryos are transferred into the uterus.