Genetic counseling

My sister discovered she was expecting her third baby shortly after her 36th birthday. She went to her first prenatal visit and immediately noticed that the nurse labeled every page in her chart with the acronym, AMA (advanced maternal age). She called me from her cell fuming as soon as she left. “Don’t you think that’s rude,” she asked. I didn’t, but then again I wasn’t the one being labeled as obstetrically-over-the-hill. At her next visit she was given a referral to see a genetic counselor.

A genetic counselor works with a person or family that may be at risk for an inherited disease or abnormal pregnancy outcome, discussing their chances of having children who are affected. Anyone who has unanswered questions about the origins of diseases or traits in the family should consider genetic counseling. People who may find it valuable include:

  • Women who are pregnant or planning to be after age 35.
  • Those who have, or are concerned that they might have, an inherited disorder or birth defect.
  • Couples who already have a child with mental retardation, an inherited disorder or a birth defect.
  • Couples whose infant has a genetic disease diagnosed by routine newborn screening.
  • Women who have had babies who died in infancy or three or more miscarriages.
  • People concerned that their jobs, lifestyles or medical history may pose a risk to outcome of pregnancy. Common causes of concern include exposure to radiation, medications, illegal drugs, chemicals or infections.
  • Couples who would like testing or more information about genetic conditions that occur frequently in their ethnic group.
  • Couples who are first cousins or other close blood relatives.
  • Pregnant women whose ultrasound examinations or blood testing indicate that their pregnancy may be at increased risk for certain complications or birth defects.

A family can seek genetic counseling directly or be referred by a physician. Comprehensive genetic services centers are available in the United States, usually located within large medical centers or teaching hospitals. Smaller areas may be served by satellite clinics.

If you think you could benefit from genetic counseling:

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