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Saturday, July 20:  All UR Medicine facilities are open as scheduled and providing safe patient care, with a goal to return all clinical services to full efficiency by early next week.
Patients: click here for more information. Faculty/Staff: click here for information.



Genetic Counseling

Counseling session

There are many reasons that a patient or couple might be referred to Reproductive Genetics to see a genetic counselor. Sometimes it is because of something that seems quite ordinary, such as the patient being over the age of 35. Other times it is because of a known genetic disease in the family, like muscular dystrophy or cystic fibrosis. But very often it is because of a risk that has been identified by a routine screening test, either before or during pregnancy. Some of the common reasons that we meet with patients are listed below. 

  • Maternal age of 35 years or older at delivery
  • Positive prenatal screening test results (like 1st Trimester Screen or Quad Screen)
  • Prenatal ultrasound findings suggestive of an increased risk for birth defects
  • Personal history of being a healthy “carrier” for a genetic disease gene
  • Positive prenatal diagnostic test results (from amniocentesis or CVS)
  • Prenatal exposure to medications, drugs, alcohol, radiation, chemicals, or certain infections
  • Personal history of 2 or more miscarriages
  • Personal or family history of a chromosome abnormality or variant
  • Personal or family history of a genetic disease or birth defect
  • Desire for ethnic screening (e.g. Ashkenazi Jewish, French Canadian, Mediterranean, etc.)
  • History of infertility, especially male factor
  • Desire for Pre-Implantation Genetic Diagnosis (PGD) or related techniques
  • Couples who are blood relatives

Remember, most of the time patients feel better and are less anxious after meeting with the genetic counselor, and most of the time any testing that patients may choose is normal and their babies are healthy.

Genetic Testing and Screening

Test tube

Testing is now available for over 1,500 specific genetic diseases, but most of these would only be helpful if the disease is known to run in a patient’s family. However, there are many widely available and useful screening and diagnostic tests that are offered to many women or couples. Several of these common tests are described on the following pages: