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The delicate art of genetic counseling for expectant parents

Your joy of expecting a baby has just turned to worry – family history suggests your baby might have an inherited medical condition and your doctor is recommending genetic counseling. You have no idea what this means or what to expect.

The general definition of genetic counseling, according to the National Society of Genetic Counselors, is “a process to evaluate and understand a family’s risk of an inherited medical condition.”  Genetic counselors are professionals who have specialized education in genetics and counseling to provide personalized help patients may need as they make decisions about their genetic health.

Washington University physician Jeffrey Dicke, MD, maternal-fetal medicine specialist says, “There are many reasons a woman or couple would be referred to a genetic counselor – either prior to a high-risk pregnancy or after a standard screening test shows abnormal results in an expectant mother.

Genetic counselors educate patients about their options for genetic testing. Because genetic testing is not always a simple choice, they review the procedures, timing, results and limitations. If we believe a patient needs genetic counseling, we have two highly-qualified and certified genetic counselors who work with Washington University Maternal-Fetal Medicine — Kerry Haas, CGC, and Amie Stanley, CGC.”

The most common reasons for prenatal or preconception genetic testing are:

  • Women interested in genetic screening or diagnostic testing in current or future pregnancies.
  • Women 35 years or older at the time of delivery with a single pregnancy.
  • Women 33 years of older at the time of delivery with a multiple gestation.
  • Women who have had abnormal results on a screening test (first trimester screen, sequential screen, quad screen or cell-free-fetal DNA).
  • Women with fetal abnormalities discovered on ultrasound.
  • Women with abnormal results from chorionic villus sampling (CVS) or amniocentesis.
  • Individuals of ethnic groups in which certain genetic diseases are more common.  For example: African American, French Canadian, Ashkenazi Jewish, Asian, Mediterranean.
  • Women exposed to certain medications or infections during pregnancy.
  • Couples with a history of unexplained recurrent pregnancy loss.
  • Individuals who are known carriers of a genetic condition.
  • Couples in which either parent has a genetic condition or birth defect.
  • Couples with a previous child with a genetic condition, birth defects or developmental delay/intellectual disability.
  • Couples with a family history of a genetic condition, birth defects or developmental delay/intellectual disability.
  • Couples with known consanguinity (related to each other).

A genetic counselor typically only meets with his or her patients once, face-to-face. During that appointment, the reason for referral, relevant testing options and family history are reviewed.

Genetic counselor Kerry Haas explains, “We are trained to ask appropriate questions to illicit patients’ concerns about their current and future situation regarding a possibly affected pregnancy.  Involving both members of the couple (if appropriate) is important, as they may not always feel the same way at the same time. 

Validating the patients’ feelings and helping them discover coping strategies is key.  We often discuss personal experiences they may have encountered in the past. We help them prepare by giving them different perspectives.”

Educating patients and talking about their options is an essential part of the decision-making process. Haas says, “We discuss the potential outcomes for each possible choice available.  Sometimes patients have misinformation from friends or the internet, and we sort through those misconceptions.  It is always important to emphasize that each couple/individual is unique and the same choice is not going to work for everyone.”

Genetic counselor Amie Stanley adds, “We love educating patients about their options. This involves providing accurate information about all available tests and discussing the implications of the testing they choose. It is all about helping couples make the decision that works best for them.”

For more information or to make an appointment with a maternal-fetal medicine specialist, patients are seen at two locations. Physician referral is required.

Missouri Baptist Medical Center
Building D
3023 N. Ballas Road, Suite 450
St. Louis, MO 63131
314-996-6000

Barnes-Jewish Center for Outpatient Health
4901 Forest Park Ave., Suite 710
St. Louis, MO 63108
314-454-8181