There is a lot to consider during pregnancy, including testing for genetic conditions. This can often be an anxious experience for expecting parents, however prenatal testing and screening are incredibly important as they provide valuable information about your baby’s health.
Below are some common questions I receive from patients about tests like these, along with answers that will help prepare you for your first test or antenatal appointment with your obstetrician.
Prenatal screening is a broad term that refers to tests that are often recommended during pregnancy. This type of testing is non-invasive and reveals the risk of your baby having a particular genetic condition. Results are not definitive but can provide health professionals with guidance on whether further diagnostic tests are required.
Diagnostic tests may be more invasive and some may carry a risk of complications; they do however provide more accurate results and are recommended for mature mothers and those who have a family history of a genetic condition.
Prenatal testing can begin as early as 10 weeks and include the following:
Available tests include:
The most important care required during the third trimester is your regular antenatal appointments. Your obstetrician or midwife will check the baby is growing as expected and look for signs you are not developing complications such as preeclampsia. Should there be any concern, your obstetrician will arrange further blood or ultrasound scan tests.
At around 36 weeks, you may be offered a vaginal swab looking for Group B Strep, a bacteria that is found in one-third of all women. If identified, your obstetrician will give you antibiotics in labour to reduce the chance of your baby having a serious infection after birth.
The NIPT and early blood tests are available at most GPs. Though, after the 10-week mark, it is recommended to organise prenatal testing with your obstetrician who is trained to understand the results of the tests and can best inform you how they affect the ongoing pregnancy care.
Depending on your healthcare provider, out-of-pocket expenses for the first trimester can range from $450 to $500 and out-of-pocket expenses for the second trimester can range from $300-$400.
Learning that your unborn baby is at risk of having a genetic condition or birth abnormality and planning ahead for their future can lead to complex emotions including shock, grief and guilt.
In this situation, you and your partner should:
To give yourself the best care during this busy and emotional time, my advice is do not postpone or cancel your tests.
Dr Andrew Pickering is an obstetrician and gynaecologist with more than 20 years’ experience in high- and low-risk pregnancies, ensuring women and their families get the best, evidence-based obstetric and gynaecological care. He delivers babies at the Mater Hospital, North Sydney – one of Sydney’s leading maternity hospitals.