Who is a genetic counselor?
A genetic counselor is a trained health care professional with a specialized graduate degree in the area of medical genetics. In the field of prenatal genetic counseling, a genetic counselor’s role is to help a patient understand her risks for having a child affected with a genetic or chromosome abnormality, educate the patient about the screening and/or diagnostic options available, and coordinate any prenatal or postnatal follow-up necessary.
What are the most common reasons for a woman to see a genetic counselor?
While there are hundreds of reasons, the most common reasons include advanced maternal age (maternal age equal to or greater than 35), an abnormal screening test and/or ultrasound in a current pregnancy, a family history of a genetic/chromosome condition in a prior pregnancy, a family history of a genetic disease, or a member of an ethnic group at risk for a specific disorder.
What can I expect in a genetic counseling session?
Generally, genetic counselors will construct a three generation pedigree of your family asking specific questions about ethnic background, genetic diseases, age of onset of health conditions and prior pregnancy outcomes. They will review the risks, if any, to your current or future pregnancy, and assist you in understanding the risks, benefits and alternatives to any available screening or diagnostic tests. Genetic counselors are trained to be objective – respecting and supporting the opinions and views of the patients they counsel. In the event of an abnormal test result, the genetic counselor becomes a valuable coordinator of care between the patient’s obstetrician and any subspecialty care that may be needed before or after the birth of the child.
Isn’t most of the information available on the internet?
The internet is a wonderful resource but can also provide misleading and inaccurate information. Our genetic counselors can help guide you through a confusing array of information that is critical to know prior to making any decisions about your pregnancy.
Do I need to be pregnant to see a genetic counselor?
No. Many people know they are at risk for a chromosome abnormality or a specific disease before they become pregnant. Our genetic counselors will gladly help a patient understand a particular genetic condition, research the availability of testing, arrange maternal and/or paternal testing if indicated, and coordinate prenatal testing if requested by the patient.
Who should consider genetic counseling?
Historically, this was a pretty easy answer – women over 35 years of age, women with a family history of a genetic abnormality, an abnormal screening test, an ancestral history with a high risk of a genetic disorder or an ultrasound abnormality. TImes change though – and change they have. Today we understand that every pregnancy is at significant risk for a genetic abnormality regardless of maternal age. Microarray abnormalities (small deletions or duplications of the genetic code) occur about 10 times more frequently than Down syndrome in the general population (1/65 vs 1/650). With that knowledge – every woman should at least talk to her obstetrician about genetic counseling or schedule a genetic counseling appointment in the first trimester.
Do I need to be pregnant to see a genetic counselor?
No. Many people know they are at risk for a chromosome abnormality or a specific disease before they become pregnant. Genetic counselors will gladly help a patient understand a particular genetic condition, research the availability of testing, coordinate maternal and/or paternal testing if indicated, and coordinate prenatal testing if requested by the patient.
I have had 2 healthy pregnancies and have no history of any genetic disorders – how would a genetic counseling appointment benefit me?
A common misconception is that a lack of a history of a genetic abnormality in the past (either in a prior pregnancy or a family history) eliminates the risk of a chromosome/microarray/single gene abnormality. Of the three common abnormalities mentioned, only single gene disorders are most commonly considered inherited while nearly all chromosome and microarray abnormalities are de novo (spontaneous new occurence).
A Perinatologist's Perspective:
Antenatal testing is without a doubt - inconvenient. Twice weekly visits to undergo antenatal testing between 32 weeks and the delivery of your baby is a real time committment and disruptive to work, family and social calendars. As care providers, we empathize. But the benefits of antenatal testing far outweigh the horror of a stillbirth that may have been preventable.