Preconception Carrier Screening

Preconception Carrier Screening

Preconception 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.

Preconception screening 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
The importance of preconception carrier screening

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.

Current guidelines* recommend that screening for common genetic disorders, including CF, SMA and FXS, may be offered to all women. It is also recommended that individuals with an increased likelihood based on ethnicity be offered screening for haemoglobinopathies.

*Prenatal screening and diagnosis of chromosomal and genetic conditions in the fetus in pregnancy (C-Obs59), RANZCOG College Statements and Guidelines

Resources

Information for Doctors

Information for Patients

Preconception Carrier Screening Request Form

Test Details