Genetic Conditions in Self or Family

Some families, patients, or their partners have known genetic disorders that they may be worried if they can be passed down to their children. Other patients may themselves have been born with structural differences or may have family members with these conditions and they may be worried about the potential for their children to be affected.

If you or a family member is concerned about genetic conditions in the family, your doctor may send you to MFM to see a genetic physician or a genetic counselor. Many women who are considering pregnancy at an older age may wish to explore testing options prior to becoming pregnant.

Additionally, patients with a family or personal history of pregnancy loss or inherited diseases may have additional genetic concerns. UR Medicine Maternal-Fetal Care offers reproductive genetic counseling to women and their partners and testing and screening in or before pregnancy.

Some of the common reasons women may be asked to see a genetic counselor prior to becoming pregnant include:

• Maternal age of 35 years or older at delivery
• Personal history of being a healthy “carrier” for a genetic disease gene
• 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.