Genetic Testing

PinnacleHealth offers expectant parents a wide range of genetic testing options to help ensure a safe pregnancy and a healthy baby.

When you become pregnant your greatest hope is for a beautiful and healthy baby.  And it is also natural to have concerns about the health of your baby. You and your partner may have questions…. What if my baby has a health issue? What would I do? What I can do to prevent problems?

Today, there are a variety of genetic testing options that will give you important information about the health of your baby.

Common Types of Genetic Testing

Some prenatal tests are screening tests and only reveal the possibility of a problem. Other prenatal tests are diagnostic, meaning they can determine — to a certain degree — whether a fetus has a specific problem.  To make a more specific determination, the screening test may be followed by a diagnostic test.  Common genetic testing includes:
  • Alpha-fetoprotein (AFP). Blood test that checks the level of AFP in a pregnant woman's blood in order to see whether the baby may have spina bifida and anencephaly. 
  • Chorionic Villus Sampling (CVS). Diagnostic test for identifying chromosome abnormalities and other inherited disorders that involves removing some chorionic villi cells from the placenta at the point where it attaches to the uterine wall. 
  • Amniocentesis. Procedure that involves removing a small quantity of fluid from the amniotic sac surrounding the developing fetus. 
  • Trisomy Screening. This blood test screens for Down syndrome, Trisomy 18 and neural tube defects. It has been shown to detect approximately 90 percent of Down’s cases. Trisomy screening can be done through a second trimester blood test or as a combination of ultrasound and first trimester blood testing. 


What Is Genetic Counseling?

If your family or health history suggests that genetic testing would be helpful, you may be referred to a genetic counselor or you might decide to seek out genetic counseling yourself. A Genetic Counselor will help you:
  • Evaluate family history and medical records
  • Order genetic tests & evaluate the results
  • Understand and reach a decision about what to do next


Is Prenatal Genetic Testing Right for You & Your Baby?

Regardless of whether or not you have a family history or are a high risk for genetic disorders, here are some questions to think about before deciding on prenatal genetic testing:
  • How important is the reassurance of a negative or normal screening test?
  • If the results of a screening test are positive or worrisome, will you choose a more invasive diagnostic test that carries a risk to the pregnancy?
  • Would a firm diagnosis affect how you handle the pregnancy or prepare for the baby?
  • If you opt out of further testing, how will you handle the uncertainty about your baby's health?

Learn more about genetic testing and counseling services available at PinnacleHealth  >>