Prenatal Genetic Counseling

During pregnancy, there are several types of genetic screens that provide information about whether a baby is at increased risk for a chromosomal condition (one example is Trisomy 21, or Down Syndrome). 

Blood-based genetic screening tests during pregnancy are often called NIPT (non-invasive prenatal testing), or cell-free DNA tests. They analyze DNA from the mother’s blood sample to provide information about the chance for certain types of chromosomal conditions that affect a baby’s health. There are other types of genetic screening tests that analyze hormone or other biomarkers that can indicate increased chance for chromosomal differences. 

Additionally, the anatomy scan ultrasound (typically conducted around 20 weeks) provides screening information. Certain findings on an ultrasound can indicate that a baby may have a genetic or chromosomal condition. 

If a screen indicates an increased risk for a chromosomal or other genetic condition, there are diagnostic tests that can be performed during pregnancy to learn more information. The most common tests are chorionic villus sampling and amniocentesis. 

If you are pregnant or planning to become pregnant, you may consider genetic screening during pregnancy. 

Genetic counseling can provide you with information about your options for blood-based screening. We would explain the screening options in detail, guide you through making an informed decision, and support you in understanding the results and next steps.  

Additionally, you may be referred to a genetic counselor for care if findings on the anatomy scan indicate concern for a genetic condition. We would support you in understanding these findings, what they mean for your baby, and help you find resources as you move forward and make any necessary decisions. 

If the results of your screening were of concern, we would guide you through learning about diagnostic testing options and deciding whether they are right for you or not. Throughout these processes, our priority is on caring for both you and your baby.