Genetic screening tests include testing for conditions that may be passed on to the baby from the parent’s genes or conditions that can develop spontaneously during the baby’s early development.
Testing for inherited conditions can be done in the preconception time period or once you find out you are pregnant. The most common genetic conditions tested for are cystic fibrosis (CF) and spinal muscular atrophy (SMA). If both parents carry the gene mutation for one of these conditions, there is a 25% chance their offspring could have one of these diseases. A blood test can determine if you are a carrier.
In addition, tests can be done to screen the baby for chromosomal abnormalities. Trisomy 21 (Down Syndrome), Trisomy 18 (Edward Syndrome) or Trisomy 13 (Patau Syndrome) can be screened for with a variety of non-invasive and invasive tests. These include:
- Cell-free DNA
- Nuchal Translucency testing, which is a specialized ultrasound
- Chorionic Villi Sampling (CVS), where a small samples of cells are taken from the placenta
- AFP tetra testing, which measures proteins in the blood
- Anatomy ultrasound screening
We will be providing you more information on these tests to help you decide which, if any, would be best for you and your pregnancy. We recommend reviewing this information with your partner so that you will be able to let us know if you desire any testing and what type of testing you may be interested in doing.