When to Seek Genetic Counseling
Genetic counseling gives you information about health concerns that run in your family. It includes a review of family history, health history, pregnancy history, or all three. The goal of genetic counseling is to:
Check your risk of having a baby with possible health problems
Explain what causes a health problem and how it is inherited
Discuss what tests are available
Figure out the outlook of a health problem
Manage your health needs
Treat a health problem
Counseling sessions usually last about an hour. But sessions can vary based on your specific health and family history. Genetic counseling can be given by:
A board certified genetics doctor (clinical geneticist). This is a doctor with special training in genetics.
A doctor with special training in genetics counseling in his or her specialty. For example, a doctor who counsels on sickle cell disease.
You may get genetic counseling for any of the following.
Family history factors
Family history factors mean health issues that run in families. You may need this if you had a previous child born with:
Neural tube defects, such as spina bifida
Chromosome problems, such as Down syndrome
Cleft lip or palate
Single gene defects, such as cystic fibrosis or phenylketonuria PKU
Hearing or vision problems
Mental health problems
Other problems that could be considered genetic
You may also need this counseling if:
You have had multiple pregnancy losses. These include miscarriages, stillbirths, or infant deaths.
You or your partner has a genetic disorder or any disorder seen in several generations
Both you and your partner are carriers for a genetic disorder. This may be diagnosed by the birth of an affected child or by carrier screening.
The mother is a known or possible carrier of a genetic disorder such as hemophilia
Either you or your partner is a known carrier of a balanced chromosome problem
Mother is age 35 or older at delivery
Mother’s blood tests show a higher risk for neural tube defects, Down syndrome, or trisomy 18
Abnormal prenatal test results or ultrasound exam
Baby or parent being exposed to potentially harmful things. These include illegal drugs, certain chemicals, radiation, or infection.
Older age of the father at the time of conception
Infertility cases where either parent may have a chromosome problem
Couples that need fertility treatments to get pregnant. Or people donating eggs or sperm for fertility treatments.
Some health issues that affect the mother also may affect the fetus or child. These include:
Brain or mood disorders
High blood pressure
You may also need counseling for any of these things:
You are a member of certain ethnic groups. Or you live in areas where certain diseases are more common. These include cystic fibrosis, Tay-Sachs disease, sickle cell disease, and thalassemias.
You are very worried or fearful of having a child with a birth defect.
The pregnancy involves blood relatives or incest.
Your child may be at high risk for a genetic disorder based on your family or your personal health history. You may want to get premarital or preconception counseling.
June 16, 2018
Genetic Counseling: Family History Interpretation and Risk Assessment. UpToDate.
Freeborn, Donna, PhD, CNM, FNP,Haldeman-Englert, Chad, MD