Genetic conditions, counseling, and testing

January 31, 2022

As Birth Defects Awareness Month wraps up, we want to shift the focus over to genetics, including information about genetic counseling and testing. Part of planning your pregnancy includes understanding how genes, birth defects and other medical conditions that run in your family can affect your baby’s health. Below are some important points to consider.

A quick guide to understanding genes

Parents pass genes and chromosomes to their children. Genes are parts of your body’s cells that store instructions for how your body grows and works. Chromosomes are the structures in cells that hold genes. Each person has 23 pairs of chromosomes, or 46 total. For each pair, one chromosome comes from your mother and one from your father.

Sometimes the instructions in genes change or mutate. Chromosomes can also change--there may be too many or too few, or part of a chromosome may be missing. Any condition related to genes or chromosomes can be called a genetic condition.

How genetic conditions can affect your baby

Every baby who’s born with a genetic condition is different:

  • Some don’t have serious problems.
  • Some may have intellectual disabilities. These are problems with how the brain works that can cause trouble or delays in physical development, learning or communication.
  • Some may have birth defects. Birth defects change the shape or function of one or more parts of the body. They can cause problems in overall health, how the body develops or how the body works.
  • Sometimes genetic conditions can cause miscarriage or stillbirth.

How a genetic counselor can help

A genetic counselor is trained to help you understand genes, birth defects and medical conditions that run in families and how they can affect your baby’s health. When you see a genetic counselor, they:

  • Take your family health history to see how it may affect you and your children.
  • May set up appointments for screening tests or other tests to check for genetic conditions.
  • Help you understand test results and how they may affect you, your baby and your family. This can help you make decisions about your baby’s future and make plans to care for and get treatment for your baby after birth.
  • Refer you to medical specialists, education resources and support groups that focus on your baby’s condition.

Reasons you might want to get genetic counseling

You may want genetic counseling if:

  • You, your partner or one of your children has a genetic condition.
  • A genetic condition runs in you or your partner’s family or ethnic group.
  • You’re 35 or older.
  • You and your partner are blood relatives.
  • Your job, lifestyle or medical history may increase your baby’s chances of having a genetic condition or birth defect. For example, working with certain chemicals, using street drugs, abusing prescription drugs, or taking some medicines can affect your baby.
  • Tests like ultrasound, other prenatal tests or your baby’s newborn screening results show increased risk for a genetic condition or birth defect.
  • You’ve had two or more miscarriages or babies who died after birth.

You can get genetic counseling before or during pregnancy. Your provider or the National Society of Genetic Counselors can help you find a genetic counselor.

Testing is your choice. There are benefits and risks to testing for genetic conditions. For example, some people may feel it causes stress or anxiety. Or, some may decide genetic testing can help with future planning. Talk to your provider or a genetic counselor to decide what is right for you and your baby.