Testing for genetic conditions
Along with general screening in pregnancy and ultrasounds, we offer two types of genetic screening. These screening tests are usually done in the first trimester and are optional.
Aneuploidy testing
Aneuploidy testing, or chromosomal testing, identifies your risk of having a baby with an abnormal amount of chromosomes. The most common condition associated with this is Down Syndrome. There are two ways to test for chromosomal abnormalities in pregnancy:
NIPT or Free Cell DNA testing
This is a blood test down after 10 weeks of pregnancy. This test can also tell you the gender of your baby if you would like to know.
Integrated screen
This is an ultrasound and a series of blood tests done in the first and second trimester. This test also screens for spina bifida, which is a condition affecting the spine.
For more information on these tests and how to get them done, click here*.
Carrier Screening
Carrier screening tests you for genetic conditions that may be passed on to your baby. Carrier screening is a blood test usually done in the first trimester. The two most common carrier screening tests are:
Cystic Fibrosis (CF)
This condition affects the respiratory and digestive systems.
Spinal Muscular Atrophy (SMA)
This rare genetic disorder affects the nerves leading to muscle weakness and possible respiratory issues.
Other carrier screening
While Aneuploidy testing, if desired, can be done with each pregnancy, carrier screening only needs to be done once for all your pregnancies.
Testing is optional
Genetic screening is optional, and the decision to undergo these tests is entirely up to you.
Genetic screening can provide valuable information about the potential risk of these conditions in your baby, allowing you to prepare emotionally and consider any necessary medical interventions.
Remember, genetic screening is not a guarantee of a particular outcome, and a positive result does not mean that your baby will definitely have the condition. Conversely, a negative result does not guarantee a healthy baby. Genetic screening simply provides information to help you and your healthcare team make informed decisions about your pregnancy and plan for the best possible care for your baby.
If you wish to undergo genetic screening, we can discuss the available options and help you make the choice that aligns with your preferences and values.
