Who Should Seek Genetic Counseling
In general, genetic counseling and testing is offered to couples or individuals identified as being at risk for a particular genetic problem. Some of the risk factors that health care providers consider in deciding who should be offered testing include family history, medical history, and ethnicity. Examples include, but are not limited to:
- A woman who is pregnant or plans to become pregnant at or after age 35. Some chromosomal disorders, such as Down syndrome, occur more frequently in children born to older women.
- A personal or family history of a genetic condition (i.e., cystic fibrosis, sickle cell trait or anemia, thalassmia, muscular dystrophy), birth defect, mental retardation, autism, ADHD, chromosomal disorder, or hereditary cancer.
- A woman who has had ultrasound or screening tests that suggest a possible problem or chorionic villous sampling or amniocentesis that yields an unexpected result.
- Women who have had two or more pregnancy losses (miscarriages), a stillbirth, or a baby who died in early infancy.
- Couples (or either parent) who already have a child with a known inherited disorder, a birth defect, mental retardation, autism, ADHD, or developmental delay.
- Those with an increased risk of developing or passing on a particular genetic disorder on the basis of a person's ethnic background. For example, couples of African descent are most at risk for having a child with sickle cell anemia; couples of central or eastern European Jewish (Ashkenazi), Cajun, or Irish descent may be carriers of Tay-Sachs disease; and couples of Italian, Greek, or Middle Eastern descent may carry the gene for thalassemia, a red blood cell disorder. (Learn more about ethnicity and genes here.
- People related by blood (for example, cousins) who plan to have children together. A child whose parents are related may be at an increased risk of inheriting certain genetic disorders.
- The prospective father has no sperm in semen. Chromosomal testing should be done if testicular sperm extraction is being considered. (Learn more about when to test his fertility here.)
- A history of more common diseases such as cancer or Parkinson's disease that affect multiple relatives in several generations of a family.
- Couples whose infant has a genetic disease diagnosed by routine newborn screening.