Carrier Screening for CF, SMA and FXS

Carrier Screening for CF, SMA and FXS

Carrier screening can identify individuals or couples at high risk of having a child with a serious heritable disorder. This test is becoming an essential part of prenatal care planning. It allows patients the opportunity to explore their reproductive options, and helps ensure they can make properly informed decisions.

The importance of the carrier screen

Cystic fibrosis (CF), spinal muscular atrophy (SMA) and Fragile X syndrome (FXS), three of the most common familial disorders in Australia, affect 1 in 1,500 babies; this is the equivalent to the combined risk of trisomy 18, trisomy 13 and Turner syndrome. Many people have no family history and are unaware they are carriers.

RANZCOG now recommends that information about reproductive carrier screening for common disorders be offered to every woman either prior to conception (preferred) or in early pregnancy. An expanded carrier screen of over 300 genes is also available through Sonic Genetics. It is also recommended that individuals with an increased likelihood based on ethnicity be offered screening for haemoglobinopathies.

Carrier screen identifies carriers by testing for mutations that cause most cases of CF, SMA and FXS
Condition People with the condition Carriers of the condition
CF 1 in 3,000 births 1 in 25
SMA 1 in 6,000–10,000 births 1 in 35
FXS 1 in 7,000–11,000 people 1 in 250
Data from: www.cysticfibrosis.org.au
www.smaaustralia.org.au
www.fragilex.org.au
Genetic Counselling

Couples tested by Sonic Genetics and found to be at high risk of having an affected child will be offered genetic counselling free-of-charge, upon referral from your doctor. Full details can be found here.

Resources

Information for Doctors

Information for Patients

Carrier Screening Request Form

Test Details

Genetic Counselling

CF Medicare Update