genetic counselling Brisbane and Telehealth

preconception

carrier screening

 It is estimated that each of us is a silent carrier for approximately three to five genetic conditions. Preconception carrier screening is genetic testing which determines your carrier status for many serious genetic conditions, both common and rare.

genetic counselling Brisbane and Telehealth

Preconception Carrier Screening

Preconception carrier screening is a genetic test that determines whether you are a carrier for a serious genetic condition.  There are three main types of genetic conditions: single gene conditions, chromosome changes and multifactorial disorders.  Preconception carrier screening includes rare autosomal recessive and X-linked recessive single gene conditions. In most cases, there is no family history of the condition.  We provide expert genetic counselling to assist prospective parents in making an informed decision about the role of preconception carrier screening in planning a pregnancy.

Autosomal Recessive Conditions

In autosomal recessive genetic conditions, the affected individual has no working copies of a particular gene.  This is because they have inherited a single faulty copy from each parent.  The parent is an asymptomatic or silent carrier. Preconception carrier screening is available, should you wish to learn your carrier status. Children born to parents who are carriers for the same genetic condition have a 25% chance of being affected by the condition.  Examples of autosomal recessive conditions for which genetic testing is available are Spinal Muscular Atrophy (SMA) and Cystic Fibrosis (CF).

Mackenzie’s Mission

Mackenzie’s Mission was born out of one family’s heartbreaking loss of their beautiful baby daughter, Mackenzie, to a severe autosomal recessive genetic condition, Spinal Muscular Atrophy (SMA) type 1.  Mackenzie’s parents, Rachael and Jonny Casella, discovered they were carriers of SMA when Mackenzie was diagnosed.  They are now passionate advocates for preconception carrier screening. Read their story here.

X-linked recessive Conditions

A person with an X-linked recessive condition has a faulty gene carried on the X-chromosome.  Because females have two X-chromosomes, women are typically either silent carriers or more mildly affected than males. Preconception carrier screening includes X-linked recessive conditions. Examples of X-linked recessive conditions for which genetic testing is available include Duchenne Muscular Dystrophy (DMD) and Fragile X syndrome (FRAX).

Learning about your genetic carrier status through preconception carrier screening provides you with the opportunity to understand what your chance, as an individual or couple, would be of having a child with a serious genetic condition.  This information would provide the opportunity for you to utilise reproductive planning options to reduce the chance of passing the faulty gene on to a future child.

Reproductive planning options currently available include prenatal genetic testing of an established pregnancy or preimplantation genetic diagnosis (PGD) in an embryo created using IVF.

Preconception carrier screening is readily available to determine your carrier status for many genetic conditions including Fragile X syndrome, Spinal Muscular Atrophy (SMA), Duchenne Muscular Dystrophy and Cystic Fibrosis (CF).  We provide genetic counselling to help you make an informed decision as to which genetic testing is appropriate for you.  We explain the tests and subsequent results in an easy to understand manner, helping you to integrate this information with your own personal values to tailor a healthcare plan for you.

Questions about preconception carrier screening?  Please either contact us or ask us a question using the enquiry button below.  Ready for an appointment?  Please contact us and complete our New Genetic Patient Questionnaire Form by clicking the link below to assist us to adequately prepare for an appointment with you.

 

contact us

Genetic Counselling Brisbane:

Herston Health

298 Gilchrist Avenue

Herston QLD 4006

Appointments including telehealth:

P: 07 3088 6983

F: 07 3014 0186

E: admin@genesaustralia.com.au

Genes Australia:

M-F: 8am – 4pm

Sat: By appointment only

Urgent appointments available