What is genetic counseling?
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In the most general terms, genetic counseling determines the risk you have of passing on a hereditary disease to your baby. This type of counseling can either be a screening or a diagnostic test, but it may not be necessary for every woman.
According to the CDC, congenital disabilities affect only 3% of newborn babies. Therefore, genetic counseling is most useful for women who:
- Have a known risk factor in their family
- Already have a child with a congenital disability
- Are over 35
- Have abnormal test results from regular prenatal testing or an amniocentesis
Which screenings are offered?
Dr. Matthews uses two different screening methods to assess your risk of passing on recessive genetic diseases, such as cystic fibrosis, thalassemia, and Tay-Sachs disease. These non-invasive prenatal tests (NIPTs) include:
Inheritest®
Four different Inheritest panels can detect over 100 different genetic disorders. Dr. Matthews helps you choose the test that’s right for you based on your medical history.
MaterniT GENOME®
This noninvasive lab test can reveal the sex of your baby, as well as screen for chromosomal abnormalities, such as trisomy 18, 21, or 13.
It’s important to note that these two tests are screens and not diagnostic tools. To make a more accurate diagnosis, Dr. Matthews needs to perform a medical procedure to gather a sample of your amniotic fluid or placental tissue for testing.
What is the California Prenatal Screening Program?
The State of California offers a genetic screening for chromosomal abnormalities through its California State Prenatal Screening Program, which Dr. Matthews offers at her practice. The test is called Sequential Integrated Screening (SIS), and it screens pregnant women to see if their babies could be affected by:
- Trisomy 18, or Edwards syndrome
- Trisomy 21, or Down syndrome
- Open neural tube defects
- Abdominal wall defects
- Smith-Lemli-Opitz syndrome
To determine whether you should take part in this program, Dr. Matthews sits down with you to review your medical history, your prenatal test results, and your family history.
Does insurance cover genetic counseling?
Dr. Matthews, along with Integrated Genetics -- the company that conducts the Inheritest and MaterniT GENOME tests -- are in-network with most major insurance plans. If you don’t have insurance, they work with you to make sure you get the testing you need and a payment plan you can afford.
Estimate your cost here
If you’d like to explore genetic counseling, call Dr. Helen Matthews or schedule an appointment using the online booking tool.
