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First Time Mums | Ultrasound Care

Genetic Counselling and Genetic Carrier Screening

My doctor has recommended my partner and I see a genetic counsellor for genetic carrier screening…

Firstly, what is genetic counselling?

Genetic counselling is a communication process which aims to help people understand and adapt to the medical, psychological, and familial implications of the genetic contributions to disease. The role of a genetic counsellor provides a safe space for individuals and/or couples to make informed decisions about their own health, or the health of their pregnancy. 

Genetic counsellors are trained in both medical genetics and counselling to interpret family history information, genetic test results, and deliver complex information to families in a way that is meaningful to them.  

And what is genetic carrier screening? 

Genetic carrier screening is a test that determines whether you are a healthy carrier of a number of genetic disorders. Carrier screening will evaluate the reproductive likelihood of having a child with specific inherited conditions. This testing can be performed before a pregnancy (preconception) or during a pregnancy, but preferably at an earlier gestation. Genetic carrier screening is intended for the male and female who have or will, contribute their DNA to create the pregnancy. This could be the couple who have conceived a spontaneous/IVF pregnancy together or, this could be screening the biological parent and/or the sperm or oocyte donor.    

Couples have an increased chance of having a child with an inherited genetic condition when:  

  • both partners are carriers for the same autosomal recessive condition. 
  • the female reproductive partner is a carrier for an X-linked condition 

During your genetic counselling appointment at Ultrasound Care, your genetic counsellor will discuss the different types of carrier screening tests available. They will help you and your partner choose the screening option that is right for you both, with consideration to the price, wait time for results, and coverage of conditions included.