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Reproductive Carrier Screening



As of 1st November 2023, Medicare has started on a rebate for reproductive carrier screening and what does this mean for couples who are planning for a pregnancy.

 

Carrier screening is different from aneuploidy screening (nuchal test or NIPT), which is done after falling pregnant and screens for conditions like Down Syndrome, Edwards Syndrome or Patau syndrome (mainly). Carrier screening is ideally done before one falls pregnant as it screens for pre-existing genetic conditions such as cystic fibrosis or muscular dystrophy.

 

The basic panel screens for 3 conditions – 2 which is mentioned above (cystic fibrosis and muscular dystrophy) as well as Fragile X. There is an expanded screen which can include anything between 200 – 400+ conditions but is not medicare funded.

 

Carriers are often unaware of the condition as it is a recessive gene, so carriers are usually healthy and do not exhibit the disease. If a baby inherits both recessive (abnormal) gene (1 from mom and 1 from dad), the baby is likely to exhibit the disease condition and can be unwell.

 

The benefit of doing the test before falling pregnant is the opportunity to find out if you and your partner carries the risk, and it can be up to 25% of passing a disease  (if both parents carry the recessive gene) to the child and there is an option to go through preimplantation testing through IVF.

 

Please contact us or your GP to discuss this further before planning for your pregnancy. 


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