Genetic Testing

Pre-implantation genetic screening
“Embryo screening does not increase your chances of a baby from your egg collection. What it does is exclude embryos destined to fail, miscarry or have significant chromosomal errors avoiding grief & reducing your time to a healthy baby” — Dr Myvanwy McIlveen

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Preimplantation Genetic Screening FAQs

What is Preimplantation Genetic Screening (PGS)?

PGS, is a specialised reproductive technology that involves screening embryos for chromosomal abnormalities before they are implanted during In Vitro Fertilisation (IVF). This helps identify embryos with the best genetic makeup, increasing the chances of a successful pregnancy. Genea uses GeneSure to screen your embryos.

Why should I do PGS?

During your IVF cycle,  a scientist will select an embryo for transfer based on its appearance — but a significant proportion of embryos that look normal under the microscope actually have chromosomal issues. Usually an embryo with a chromosomal abnormality will either not implant or miscarry, but sometimes you can fall pregnant with a child that has, for example, Down syndrome.

Some couples opt to try and avoid this, by having PGS. This reduces the risk of miscarriage, excludes any embryos with chromosomal errors, and allows us to better select the embryo most likely to implant. It may also mean that less embryo transfers are required to achieve a healthy baby.

Who can benefit from PGS?​

PGS is typically recommended for couples with a history of recurrent miscarriage, advanced maternal age, or a known risk of carrying a genetic disorder. It ensures the selection of healthy embryos, reducing the likelihood of miscarriage and the birth of a child with genetic abnormalities.

Who should consider this technology

  • Patients who have multiple embryo transfers (>4-5) without success

  • If you have had multiple miscarriages
  • If you wish to avoid at all costs a termination of a Down syndrome pregnancy
  • If you would prefer to have less embryos in storage
  • Older patients (>37) who are more at risk of embryos with errors

How is PGS performed?

PGS involves the biopsy of one or more cells from the embryo at the blastocyst stage (at day five or six of development). The embryos are then frozen & the cells tested. We screen for chromosomal abnormalities using the GeneSure technique. Single gene disorders such as cystic fibrosis can also be screened for if you are known to be at risk.

Is PGS a guaranteed way to have a healthy baby?

While PGS significantly improves the odds of selecting healthy embryos, it cannot guarantee a successful pregnancy or the birth of a healthy baby. Other factors, such as age, general health, age, embryo quality and uterine factors also play essential roles in achieving a successful pregnancy.

Are there any risks associated with PGS?

PGS is generally considered safe, but it does involve a minor risk of damaging the embryo during the biopsy process. However, advancements in technology have reduced these risks significantly. The benefits of selecting healthy embryos often outweigh the minimal risks involved.

What is the cost and is it covered by insurance?

It costs $995 per embryo for testing in addition to the cost of your IVF cycle. This is capped if you have 5 or more embryos for testing. Most people would have 1 to 3 blastocysts suitable for testing. If you have a genetic disorder (for example spinal muscular atrophy- SMA) the testing will also require a genetic workup & the costs will be reduced by a Medicare rebate.

Preimplantation Genetic Diagnosis FAQs

What is PreImplantation Genetic Diagnosis?

Preimplantation diagnosis or PGD or PIGD is the term used to refer to the testing of embryos to exclude inherited, genetic disorders.

It uses the same methodology as Preimplantation Genetic Screening (PGS) where a sample of cells is taken from the outer edge of the embryo on day 5 or 6, the embryo is frozen & the cells sent off for testing. We test for both the affected gene (or genes) and also screen the embryos for chromosomal normality (PGS).

What genetic disorders can be screened for with PGD?

The vast majority of genetic diseases can be screened for if the gene mutation or location of the gene is known.

For example, cystic fibrosis (CF), spinal muscular atrophy (SMA), BRCA gene mutations can all be tested for.

We can also do exclusion testing for Huntington’s Disease when someone has chosen not find out their own status but has an affected parent.

  • Any single gene defect e.g., cystic fibrosis, BRCA1, haemophilia
  • Chromosomal translocations
  • Exclusion testing

What is involved in PGD?

It takes around 4-6 months before we are ready to do an IVF cycle for embryo testing as a number of things need to be done to get things ready.

After seeing one of the NFS doctors we will then refer you to a clinical geneticist who works with Genea for a Zoom consultation. The lab will organise DNA collections (blood spots or saliva) from yourselves & other family members to start a genetic workup that will take 3 months. This allows us to fingerprint DNA markers around the affected gene to help discriminate between the normal & affected genes. The workup takes 3 months. This only happens once & there is a cost involved of approximately $800-1000 out of pocket.

Are the costs different for PGD vs PGS?

Yes, the government provides a Medicare rebate for the first 3 embryos tested with PGD but not with PGS. This makes the cost of testing the embryos less expensive with PGD than PGS. The actual IVF cycle costs are the same.

Will I know the gender of my embryo?

Gender is only disclosed if it affects the results. If we are screening for example an X- linked genetic disorder where women are carriers but not affected yes, we will know gender. In the majority of situations, the lab does not tell us if the embryo is male or female. But we can find out the result once you reach 8 weeks gestation.

Genea Genetic Testing of Embryos (Pre-implantation Genetic Screening PGS)

How long has Genea being doing embryo testing?

Our IVF clinic, Genea Newcastle, has been providing embryo testing services for over 20 years — for patients from the Hunter, Northern NSW, Upper Hunter, New England and the Central Coast. 

What can we screen for in an embryo?

  • Any single gene defect eg cystic fibrosis, BRCA1, haemophilia
  • Chromosomal translocations
  • Chromosomal normality (to exclude Down syndrome)

Why consider GeneSure testing with us?

We are constantly on the lookout for the most advanced technology to provide the best outcomes for our patients. Our highly experienced team of scientists, trained in embryo biopsy and genetic testing, work closely with our genetics team at Genea Sydney. Our patients do not have to travel to Sydney for their egg collections: all embryos tested are biopsied at our lab in Newcastle. Go to GeneSure Genea for more information: https://www.genea.com.au/assisted-conception/genetic-testing/pgd-genetic-test