Preconception Genetic Counseling: It Helps

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Having a baby is always a big life decision, no matter the circumstances. When there’s a family history of genetic disorders or problems with previous pregnancies, that decision becomes even more complex.

Luckily, there are health care professionals whose specific job is to evaluate these risks and help would-be parents make the right decision: genetic counselors.

Why do people get genetic counseling?

According to the Nemours Foundation, there are several reasons why those wishing to conceive might pay a visit to a genetic counselor. The primary reasons are having several close relatives with genetic disorders or already having a child with a genetic disorder. Genetic counseling may also be recommended if a woman has experienced three or more miscarriages.

“Genetic counseling can be valuable for a wide range of people,” says Samantha Neumann, a genetic counselor with the University of Miami Health System. “In the past, clinical guidelines only recommended specific testing or a risk assessment for certain groups of people, but they have been expanded to recognize the value for almost everyone.”

What happens in a genetic counseling session?

The role of a genetic counselor is not to diagnose a medical problem but to assess risk. And the more the counselor can learn about your personal medical history and family history of genetic disorders, the more accurate they can be at helping you determine those risks.

In addition, the American Academy of Family Physicians says that a carrier screening may provide a more accurate determination of your risks. A carrier screening is a lab test of your saliva (or blood in rarer instances) that looks for genetic indicators of the risks of certain genetic disorders.

A carrier screening can help determine if an otherwise healthy individual carries a genetic disorder. Without the testing, the only other way to determine if someone is a carrier is if their child is born with the condition.

Good help with hard decisions

Once the genetic counselor knows more about your risks of passing a genetic disorder on to a baby, then the real work of helping would-be parents make informed decisions can begin.

“We try to help frame the risks in a way so that people can be realistic and make the right decisions for them,” says Neumann. “For example, we might identify a one in four chance of a genetic disorder occurring, but that’s still a three out of four chance of having a healthy baby.”

Ultimately, the goal of the genetic counselor is not to make the decision for the parents but to guide them toward the best decision for them. At the same time, they can help them prepare and be ready for the challenges ahead if they choose to conceive. “We typically continue to meet with parents during pregnancy and even afterward,” says Neumann. “We can offer anticipatory guidance and help educate them on what having children with medical conditions might be like. This will help them be better prepared for what lies ahead.”

Neumann adds that the genetics team at the University of Miami Health System also works closely with several other experts across the health system. This allows them to provide comprehensive care for parents of special needs children throughout their journey, from pondering conception to pregnancy to parenting.

“The really nice thing about UM is that we all work together,” says Neumann. “I’m the prenatal counselor, but I work with pediatric counselors, geneticists, and other providers that we can connect with families. This lets us help you with education, support, and other resources to make sure you and your children get the best care possible.”


Wyatt Myers is a contributing writer for UMiami Health News.


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