Couple With Genetic Conditions

GENETIC TESTING BEFORE PREGNANCY

Pregnant, or thinking about it? More parents in Australia are considering genetic testing during pregnancy or before IVF to learn about their baby’s health early on. Equip yourself with essential knowledge about your baby’s well-being, anticipate and manage any potential health concerns, and get supported in making informed choices about your pregnancy and the future care of your child.

If at any time you feel anxious or overwhelmed, please know that you can speak to our team confidentially. We take utmost care in ensuring you’re fully supported and informed throughout this process.

What is Genetic Testing
in Pregnancy?

Genetic testing during pregnancy, also known as Pre-Implantation Genetic Screening (PGS), is a sophisticated medical process used to identify if the unborn baby is at risk of certain genetic disorders. This noninvasive procedure can include screening tests, (which estimate the risk of the baby having genetic conditions), and diagnostic tests, (which can provide more definitive information).

PGS has been a significant aid for numerous couples in having healthy babies, especially those who have faced extended periods of infertility or have a history of serious genetic diseases in their family.

How is PGS done?

For couples planning to have a baby through IVF, the genetic carrier screening is quite straightforward.

Three days after collecting eggs in the IVF process, a small sample is taken from the embryo. This involves removing just one or two cells through a tiny hole in the embryo’s shell. These cells are then tested to check for problems in nine important chromosomes. While waiting for the test results, the embryos are kept in a special environment. If the embryos don’t have any chromosome issues, they can either be used for pregnancy or stored for later.

What Diseases Does

Genetic Testing Detect?

What Diseases Does Genetic Testing Detect?

Embryo genetic testing can detect a wide range of diseases, many of which are inherited. The specific diseases that can be identified depend on the type of genetic test being performed.

Here are some of the key categories and examples of diseases that genetic testing can detect:

Single-Gene Disorders

These are caused by changes in a single gene. Examples include Cystic Fibrosis, Sickle Cell Anaemia, Duchenne Muscular Dystrophy, and Huntington’s Disease.

Chromosomal Disorders

These occur due to abnormalities in chromosomes (like having an extra or missing chromosome). Common examples are Down Syndrome, Turner Syndrome, and Klinefelter Syndrome.

Complex Diseases

These involve multiple genes and often environmental factors, such as heart disease, certain cancers (like breast or colon cancer), and Alzheimer’s disease.

Carrier Status For Genetic Conditions

Testing can show if a person carries a gene for diseases like Thalassemia or Tay-Sachs Disease, which could be passed on to their children.

Prenatal and Newborn Screening

Detects conditions early in pregnancy or after birth, like Spina Bifida or Phenylketonuria (PKU).

PGS testing can help couples make informed decisions about family planning and increase the likelihood of a healthy pregnancy.

Am I Suitable For
Genetic Testing Before Pregnancy?

Genetic testing is not a necessity. However, if any of the following concerns apply to you, preimplantation genetic testing may be something you wish to consider:

If you or both you and your partner carries single gene mutations that you prefer not to pass on to your future children
In cases where either you or your partner has a chromosomal rearrangement, (known as a translocation), this could lead to chromosomal variations in eggs or sperm, potentially causing miscarriages or health issues in the child.
If you have experienced a previous pregnancy affected by a chromosomal variation.
In situations of advanced maternal age, particularly for testing Down syndrome in mothers over 38 years old.
If you have had recurrent miscarriages.
In cases of repeated IVF failures, particularly where five or more embryos have been transferred without resulting in pregnancy.

Prepare and Plan For Your Baby's

Future Health and Wellbeing With PGS Testing

Prepare and Plan For Your Baby's Future Health and Wellbeing With PGS Testing

Our genetic team is committed to assisting patients who may be prone to hereditary conditions. We offer detailed information about these genetic risks and provide support for any decisions you need to make.

If you are aware of, or suspect, a serious genetic or chromosomal abnormality in your family, we encourage you to schedule a consultation with our fertility team.

FAQs

What diseases can be detected through genetic testing before pregnancy?

Genetic testing before pregnancy can detect various diseases, including Cystic Fibrosis, Sickle Cell Anaemia, Duchenne Muscular Dystrophy, Huntington’s Disease, Tay-Sachs Disease, Thalassemia, Haemophilia, Fragile X Syndrome, Spina Bifida, Down Syndrome, Edwards Syndrome, Turner Syndrome, and many more. Speak with our team for a full list.

How long after egg retrieval is embryo transfer with genetic testing?

Embryo transfer with genetic testing is typically done about 5 to 6 days after egg retrieval.