About PreGen

Genomic testing tries to find the cause of health problems in people with genetic conditions.  A genetic diagnosis can sometimes lead to changes in management or treatment of a person with a genetic condition.

Physical problems (or structural anomalies) are present in 2-5% of all pregnancies and can cause health conditions for a baby.  More than 80% of these differences are due to genetic events but it can be difficult to identify the genetic cause of differences before the baby is born. Prenatal genomic testing can sometimes help to find the cause. This information helps families consider available options and could better manage a baby’s health during the pregnancy or after the birth.

PreGen provided funded genomic testing in three national diagnostic genomic laboratories (NSW Health Pathology Randwick, VCGS, SA Pathology) for families who have abnormalities identified through ultrasound in pregnancy. Recruitment was from hospitals around Australia. Families enrolled in PreGen were asked about their hopes and expectations for genomic testing and how they found the testing process. They were also asked to allow access their medical information for the length of the study.

Information collected during the PreGen study will help clinicians understand the best way to care for families who have genomic testing in pregnancy and to assess the future use of a Medicare item number for prenatal genomic testing.