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 will provide 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 will be from 14 major hospitals around Australia. Families enrolled in PreGen will be asked about their hopes and expectations for genomic testing and how they found the testing process. They will also be asked to allow access their medical information for the length of the study.
Information collected during the PreGen study will help to 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.
Clinical teams may discuss with families who are having prenatal genomic testing whether they may be wish to be involved in the PreGen study.
Click here for more information for health professionals on recruiting families
Click here for more information for families on how to participate in the PreGen study