Genetic Counseling
As a hopeful or expectant parent, you only want the best for your child. You want them to live a long, full and happy life. But in reality, this isn't always easy.
Based on your genes, you may be at an increased risk for passing down certain genetic disorders or birth defects to your unborn baby. But we want to empower you to take charge of your health and the health of your unborn baby. We deliver genetic counseling services, including genetic testing, to equip you with the information you need to give your child a healthy life from the very start.
What Is Genetic Counseling?
Genes are unique to each individual. They carry specific information about how your body works and responds to certain factors. Genetic counseling helps you understand how your genes affect the health of you and your children.
Genetic counseling provides information about the risk of passing down genetic diseases and birth defects. The hope is that this information can help prevent them. You can seek genetic counseling at any time, including during pregnancy.
A genetic counselor provides these services. Genetic counselors are healthcare providers with education and advanced training in medical genetics and counseling. Genetic counselors:
- Evaluate family histories for possible genetic conditions
- Study how conditions are passed down within families and the related risks
- Provide genetic testing information and test result interpretation
- Coordinate referrals to other healthcare providers as needed
Do I Need Genetic Counseling?
There are many reasons people decide to undergo genetic counseling. These reasons have to do with your personal and family health history.
If you have any of the personal or family health history factors below and are interested in genetic counseling, call 310-423-9999 to make an appointment.
You may benefit from genetic counseling if you:
- Are a woman who is at least 34 years old who is pregnant or planning to become pregnant
- Have a genetic condition or birth defect or a child with one, such as cystic fibrosis, sickle cell disease or a heart defect
- Are experiencing infertility or have experienced pregnancy loss, including miscarriage (two or more) or early infant deaths involving multiple genetic birth defects
- Are pregnant and received abnormal screening results from a first trimester ultrasound (nuchal translucency test), expanded AFP testing, noninvasive prenatal screening or a 20-week pregnancy ultrasound
- Had a baby whose newborn screening results showed that they may be at risk for a genetic condition
- Are related by birth to your partner, not by marriage
You may benefit from genetic counseling if you belong to an ethnic group with a higher chance of having certain genetic diseases. These diseases include:
- Tay-Sachs disease
- Sickle cell disease
- Thalassemia
Ashkenazi Jews—those whose ancestors are from Eastern Europe—are at an increased risk for carrying and passing along a number of genetic conditions to their children. In our Cedars-Sinai Prenatal Diagnosis Center, we offer screening for many of these conditions.
You may also want to think about genetic counseling if you or your family have a history of:
- Birth defects, such as congenital heart defects, cleft lip or palate, spina bifida, short stature caused by poor growth or other physical birth defects
- Disabilities, such as an intellectual disability (mental retardation), hearing or visual impairments, or learning disabilities
- Genetic disorders, such as cystic fibrosis, Down syndrome, hemophilia, Huntington disease, muscular dystrophy and phenylketonuria (PKU)
Our Approach to Genetic Counseling
Choosing to pursue genetic counseling is a potentially life-changing decision. If you decide that genetic counseling is right for you, it's important to find a team you can trust. At Cedars-Sinai, we offer:
- Expert team: Our doctors are board-certified in genetic counseling. Board certification involves additional training in a certain medical specialty and passing an exam to demonstrate expertise. This additional training and expertise translates to more focused care that leads to better outcomes.
- Team approach: We collaborate with our maternal-fetal medicine specialists to get you the best pregnancy care, if needed. Maternal-fetal medicine specialists are doctors who manage the care of women who are experiencing a high-risk, or complicated, pregnancy.
- On-site chromosomal disorder testing: Our center features a Cytogenetics Laboratory that specializes in providing accurate, precise diagnosis of chromosomal disorders. In this lab, we test blood, bone marrow and other tissue to look for problems with chromosomes. Our in-house lab helps us give patients their results faster.
- Patient guidance: Our compassionate genetic counselors will guide you through the process of understanding your family history and test results. We also teach you how to use the information to benefit you and your family.
Genetic Counseling: What to Expect
You can receive genetic counseling at any time. But if you choose to undergo a diagnostic procedure, you would meet with a genetic counselor before it happens.
Before you arrive for genetic counseling, please complete the genetic screening questionnaire and bring it with you to your appointment.
While you receive our genetic counseling services, your counselor will:
- Collect information about your personal and family health history by asking you questions and having you complete forms
- Inform you about genetic testing so you can decide if it is right for you and, if so, choose tests that suit your needs and wishes
- Schedule appointments for genetic testing if you choose to do it
- Explain test results and your risk of passing down genetic conditions and share those results with your doctor
- If needed, refer you for care from other Cedars-Sinai specialists, including maternal-fetal medicine specialists or pediatric cardiologists
- Connect you with resources including information and support groups
As a hopeful parent, you and your partner may decide to undergo genetic testing. Based on those test results, you may decide to test your unborn baby if you're expecting a child. A doctor or trained healthcare professional will:
- Collect a sample of parental blood, hair, skin, fetal amniotic fluid (liquid that surrounds unborn babies and contains cells and proteins) or placental tissue
- Send the sample to the lab, where technicians will study the genetic material to detect genetic disorders or birth defects
- Receive the results from the lab and share them with you, unless you choose for the lab to deliver them to you directly
Conditions We Screen For With Genetic Testing
We offer genetic testing for a wide range of conditions. Some of the most common include:
Bloom syndrome leads to an increased risk of cancer. Characteristics of the condition include:
- Short stature
- Sensitivity to sun, specifically on the face, hands or arms
- A high-pitched voice
- Certain facial features, including a long, narrow face shape, small lower jaw, and a large nose and ears
Cystic fibrosis (CF) is a disorder that causes damage to the respiratory, digestive and reproductive systems. These systems release fluids including mucus, sweat and digestive fluids.
The fluids normally function as thin and slippery lubricants. But with CF, they are thick and sticky, causing certain organs, such as the lungs and pancreas, to clog.
Fanconi anemia group C is a condition in which the body produces a defective protein that can't do its job of protecting genetic material from damage. This defective protein affects the bone marrow's ability to produce blood cells.
Familial dysautonomia is a disorder that affects cells in the autonomic nervous system and sensory nervous system.
The autonomic nervous system regulates body temperature and blood pressure. It also controls breathing, digestion and tear production.
The sensory nervous system controls the body's ability to hear, see, smell, taste and touch.
Gaucher disease is a disorder in which there is not enough of an enzyme to break down a fatty material called glucocerebroside. This enzyme deficiency causes fat-covered cells to build up in the bone marrow, liver and spleen. This buildup leads to:
- Anemia (when the body doesn't have enough healthy red blood cells) and fatigue
- Bone pain and fractures
- Bleeding and bruising
- Swollen abdomen due to an enlarged liver and spleen
Glycogen storage disease type 1A is a disorder caused by not having enough of an enzyme that regulates glucose (blood sugar). The disease leads to buildup of glycogen and fat in the kidneys and liver. It also causes poor growth.
Maple syrup urine disease (MSUD) affects the body's ability to break down amino acids, causing them to build up in the blood. This buildup causes the urine to smell like maple syrup. Left untreated, MSUD leads to physical and intellectual disabilities, seizures and death.
Mucholipidosis type 4 affects the body's ability to break down carbohydrates and fat, causing them to build up in cells.
Mucholipidosis type 4 can cause delays in developing motor skills, such as the inability to control hand movements. It can also cause intellectual disability. Physical symptoms include iron deficiency, poor production of stomach acids and vision problems.
Niemann-Pick disease type A affects the body's ability to break down, distribute and use cholesterol and fat. This problem leads to a harmful buildup of lipids in the bone marrow, brain, liver, lungs and spleen.
Sickle cell disease (SCD) is a disorder of the red blood cells. Red blood cells are normally circular-shaped. In SCD, red blood cells become shaped like a rod or "sickle."
SCD leads to fewer blood cells, which is known as anemia. Other symptoms include swelling of the hands and feet and jaundice.
Tay-Sachs disease is a disorder caused by not having an enzyme to break down a harmful, fatty material called gangliosides. This enzyme deficiency causes a toxic buildup in the brain. The buildup affects how nerve cells work, causing muscle weakness and loss of control, hearing and vision loss, and seizures.
Thalassemia is a blood disorder that causes you to have fewer red blood cells and less hemoglobin. Hemoglobin is a protein in red blood cells that delivers oxygen throughout your body.