Pregnancy & pre-conception
Planning to start a family is an incredibly important time. Finding out that you may have an increased chance to conceive a child with a genetic condition can be distressing but it also allows you to be informed, allowing you to make pregnancy choices that align with your individual beliefs and values. We can provide support both prior to conception and during a pregnancy for couples and individuals through these challenges.
Reproductive carrier screening (RCS): This type of testing is ideally conducted before a pregnancy. It is designed to check if couples have an increased chance of conceiving a child with a severe genetic condition. There is a Medicare rebate for some types of RCS, others include an out of pocket cost to the couple. Your genetic counsellor can explain the options available, and support you to make an informed choice.
Non-invasive prenatal screening (NIPS): This testing is conducted at around the 10th week of a pregnancy with a blood test from the pregnant person. It is designed to identify whether there is an increased chance of specific genetic conditions, including Down syndrome (‘trisomy 21’), as well as a limited number of other conditions, depending on the test selected.
Medical imaging in pregnancy: Pregnancy ultrasounds are routinely conducted at 12 and 20 weeks in a pregnancy. Some pregnant individuals will have additional scans, based on their personal circumstances. An abnormality on pregnancy ultrasound (or MRI scan) can sometimes raise the question of a possible genetic condition for the baby. Our team can discuss possible diagnoses and potential outcomes with you. We work closely with your obstetric team to ensure rapid sharing of information in order to provide you with the best possible care.
