Reproductive genetic carrier screening describes a screening test carried out before pregnancy or in early pregnancy. It is used to identify a couple’s chance of having a child with a serious genetic condition.

Reproductive genetic carrier screening is different to screening tests undertaken during pregnancy which assess the chances of a baby having Down syndrome or another chromosomal condition.

Information and resources for healthcare professionals and patients

The Centre for Genetics Education

The Centre for Genetics Education website has information on General Genetics Clinics in NSW, and offers resources for individuals and health professionals, including a Fact Sheet - Reproductive Carrier Screening.

The Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG)

 RANZCOG has a Statement on Genetic Carrier Screening for health professionals.

NSW Health Resource – Thinking of Having a Baby

The Thinking of Having a Baby brochure includes consumer information and links to health and wellbeing resources for those who are planning and preparing for pregnancy. 

NSW Health Genomics Strategy

The NSW Health Genomics Strategy brings together key genomics policy issues and proposes a way forward that addresses the choices and challenges we may face in this rapidly evolving area of healthcare. Across 3 phases ‘Strengthening the foundations (2019 – 2020)’, ‘Enhance disease management and prevention (2021 – 2025)’ and ‘Towards precision medicine (2025 and beyond)’.

The Royal Hospital for Women - MotherSafe Fact Sheet

MotherSafe's Planning for a Healthy Pregnancy is a fact sheet about general pregnancy planning information (also available in Arabic, Chinese, Bengali and Spanish).


Current as at: Wednesday 1 April 2020
Contact page owner: Maternity, Child and Family