Reproductive carrier screening

Reproductive carrier screening

By Dr Jung Yoon Huh, Medical Principal of Northbridge

When it comes to preparing for pregnancy, there is more than a healthy lifestyle and folic acid.  Apart from a standard set of blood tests to check for women’s immunity to certain diseases that can cause significant deformities and for possible underlying conditions such as diabetes or iron deficiency, there is a reproductive carrier screening.

It is a type of genetic testing to determine if an individual is a carrier of certain genetic disorders.  It means that you may not have any symptoms at all and there may be no family history.  It is only when you have a baby with a person who is also a carrier for the same disease, the unborn child will be affected.  It is called an autosomal recessive disorder.  In fact, 1 in 30 people is a carrier for cystic fibrosis and 1 in 50 people is a carrier for spinal muscular atrophy.  Another condition, fragile X syndrome, is carried by a mutation on the X chromosome.

RANZCOG (Royal Australian and New Zealand College of Obstetricians and Gynaecologists) recommend reproductive carrier screening for all couples planning for or in the early stage of pregnancy.  It is currently privately charged, but from late 2023 it is expected to be available through the Medicare Benefits Schedule (MBS).  There is an expanded genetic screening test covering hundreds of conditions but this is not covered by Medicare.  It allows you to understand your risks of passing an inheritable condition and make informed reproductive choices in line with your values and wishes.  Regardless of the type of screening, it can be easily organised by simply taking a blood test.

Start your pregnancy journey by talking to one of our doctors about reproductive carrier screening.

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