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Carrier Screening

Explore genetic carrier screening to assess your risk of passing on inherited conditions to your children, such as cystic fibrosis.

Carrier screening is recommended for all couples who are planning a pregnancy or already in early pregnancy. This simple blood or saliva test assesses one or both parents’ genetic make-up to determine whether there is an increased chance of the child inheriting a genetic condition. The results of carrier screening empower parents to make informed decisions about the pregnancy and to prepare themselves appropriately before the baby arrives.

The purpose of genetic carrier screening is to identify whether an individual carries specific gene for an inherited disease that could potentially be passed on to their child. It is possible to be a carrier of a gene for an inherited condition without having the disease yourself. In fact, it is not uncommon for a child with no known family history of such disease to be diagnosed with a genetic condition.

As of 2023, Medicare now covers carrier screening for three common conditions – cystic fibrosis, spinal muscular atrophy, and Fragile X syndrome, meaning that limited carrier screening is bulk billed for Medicare-eligible patients.

Common Questions about Genetic Carrier Screening

Do these screening tests find every abnormality?

You have the option of a 3-Gene Carrier Screening, which tests for the three most common conditions (cystic fibrosis, spinal muscular atrophy, and Fragile X syndrome), or the more comprehensive Carrier Screening which tests over 500 other rare childhood-onset conditions. However no test is able to cover the entire spectrum of possible genetic abnormalities. There is also the potential of an inaccurate result following the test, though this is uncommon.

What do we do if we receive a high-risk result?

If your genetic carrier screening test indicates your child has the potential for an inherited genetic condition, you have a few options available. You may consider in vitro fertilisation (IVF) with preimplantation genetic testing, prenatal diagnosis from 12 weeks of pregnancy, or testing your child at birth to allow early treatment. Your genetic counsellor will talk you through the results and your options moving forward. Genea Fertility offers bulk-billed genetic counselling for patients who have received a high-risk genetic carrier screening result.

Is this the best option for us/me?

Not everyone chooses to undergo carrier screening. Those who decide to do so benefit from better peace of mind and the ability to make more informed decisions about their reproductive journey. However, the results of these genetic tests can also potentially increase costs, such as if you choose comprehensive carrier screening, and create a difficult moral dilemma for some. In considering the advantages and disadvantages of carrier screening, discuss your risk of passing a genetic condition to your children with your fertility specialist and genetic counsellor, who can help you to make a more informed choice.

How long does it take for the results to arrive?

Results for limited carrier screening (for the three most common genetic diseases), are available within two to three weeks. Comprehensive carrier screening takes a little longer, usually returning results in four to eight weeks.

Genetic Carrier Screening with Dr Ying Li

Dr Ying Li is a CREI (Certificate of Reproductive Endocrinology and Infertility) accredited fertility specialist, and is a part of Genea, a network of world leading fertility centres. Having partnered with a renowned genetic testing lab, Eugene Labs, Genea is one of the few centres facilitating both IVF and genetic testing services in combination, enabling a more streamlined and efficient process. In light of a high-risk carrier screening result, Ying can provide expert care and advice if you choose to explore IVF and preimplantation genetic testing. Patients who have returned a high-risk genetic carrier screening result are also eligible for a bulk-billed session with our Genea genetic counsellors.

Consulting Rooms

Level 3, 321 Kent St
Sydney NSW 2000

137 St Johns Rd,
Glebe, NSW 2037

50-52 Gloucester Rd,
Hurstville NSW 2220

Phone and Fax

T: 1300 323 297
F: 02 8212 8944

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