Genetic Screening Options
Along with general screening in pregnancy and ultrasounds, we offer genetic carrier screening, chromosomal disorder screening called aneuploidy screening, and sex chromosome screening by blood tests in office. These screening tests are usually done in the first trimester and are optional.
Aneuploidy screening
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:
NIPS or Free Cell DNA screening
This is a blood test down after 10 weeks of pregnancy. This test can also tell you the sex of your baby if you would like to know.
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 of your pregnancies. Additional carrier screening in addition to Spinal Muscular Atrophy and Cystic Fibrosis can be discussed with your doctor, if there are specific risk factors for other genetic conditions we may offer additional screening or may offer a referral for a Genetic Consultation.
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.
