The Human Genome project has led to greater understanding of the changes in DNA, genes and chromosomes that cause genetic disease. Testing is now available for many inherited conditions such as cystic fibrosis, chromosome changes such as Down syndrome, and birth defects such as spina bifida before or during pregnancy. Genetic counseling helps couples to identify and understand their risks to have children with inherited genetic disorders or birth defects. Anyone who is concerned about these risks can benefit from the information provided by genetic counseling.
During genetic counseling, complex genetic information is explained in terms that can be easily understood. Information is given in an unbiased manner so that individuals can make decisions based on their own personal beliefs. Genetic counselors also provide emotional support to help people cope with the information that is discussed. Couples who are thinking about having a child may consider genetic counseling to learn about their testing and screening options during a future pregnancy.
Unfortunately, 2 to 4% of all babies are born with some type of birth defect. Certain couples may have a higher risk to have a baby with one of these problems. People who may benefit from genetic counseling prior to pregnancy may include:
- Individuals of Eastern European Jewish decent who are at higher risk to carry a gene for certain genetic conditions such as Tay-Sachs. To learn more about this testing read our Jewish genetic panel brochure.
- African-Americans who are at risk to carry the gene for sickle-cell anemia.
- Caucasians who have an increased risk to carry a gene for cystic fibrosis.
- Individuals of Southeast Asian or Mediterranean origin who are at risk to carry a gene for Thalassemia.
- People with family histories of inherited disorders, or those who have previously had children with genetic disorders.
- Couples who have had recurrent miscarriages.
- Couples in which one partner carries a chromosomal rearrangement.
- Couples who share a common ancestor such as first or second cousins.
In other cases, prenatal testing can be done during pregnancy to diagnose diseases such as Down syndrome, spina bifida, and many others. Others who may benefit from genetic counseling include:
- Women age 35 or over.
- Women who are at increased risk for a chromosome problem based on 1st trimester Down syndrome screen or alpha-fetoprotein results.
- Women who were exposed to substances that could increase the risk birth defects.
- Those who have had abnormal findings on an ultrasound.
- Preconception counseling and genetic testing
- Counseling about prenatal genetic testing and screening options
- 1st trimester Down syndrome screening (also known as BUN testing)
- Prenatal genetic diagnosis by amniocentesis or chorionic villus sampling(CVS) to look at chromosomes and known genetic diseases.
- Counseling to discuss results, prognosis, provide education and support and to assist in decision making.
If you are interested in genetic counseling, appointments are available through the Genetic Counseling office at Evanston Hospital by calling 847.570.2864.
Ira Salafsky, MD
Leslie Geibel, MS, CGC
Michelle P. Kambich, MS, CGC