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Prenatal Genetic Counseling: Who Can Benefit And Why

Blog Prenatal Genetic Counseling: Who Can Benefit And Why

“One of the benefits of coming to us is that we offer longer appointments than obstetricians do, so we have more time to provide you with detailed information about your concerns,” says Renee Jones, MS, CGC, a licensed genetic counselor in maternal fetal medicine at Riley Children's Health.


All parents-to-be hope to have a healthy baby, and in most cases they do. But if you or your partner has a family history of inheritable diseases and conditions—or has certain risk factors that could harm a fetus—the wellness of your future child can be a major source of anxiety. What are the chances your baby could be affected? What kind of genetic tests are available to you? If testing reveals a potential problem, how would you figure out what to do next?

These are the kinds of questions that a prenatal genetic counselor can answer. Counselors use their training in genetics, biology, statistics, and psychology to analyze health risks in you and your partner’s family tree, explain testing options, and interpret the results. “One of the benefits of coming to us is that we offer longer appointments than obstetricians do, so we have more time to provide you with detailed information about your concerns,” says Renee Jones, MS, CGC, a licensed genetic counselor in maternal fetal medicine at Riley Children's Health. What they don’t do is recommend a particular course of action. “The goal of genetic counseling sessions is to provide the information and emotional support people need to make their own decisions about how to manage a current or future pregnancy,” says Jones.

While prenatal genetic counseling is available to anyone, couples with one or more of the following risk factors should consider taking advantage of it:

A family history of certain inherited conditions. 
Included are diseases such as hemophilia, sickle cell disease, and cystic fibrosis; chromosomal disorders such as Down syndrome, trisomy 13, and trisomy 18; and birth defects such as spina bifida and cleft lip and palate. The good news is that even if there is a history of genetic problems in your or your partner’s family tree, there may be no chance that your child could be affected. “Many genetic diseases are recessive, which means a fetus is only at risk if both parents are carriers for the disease,” says Jones. A simple blood test can determine if you or your partner are carriers.

The mother is 35 or older. 
The risk of giving birth to a baby with missing, damaged, or extra chromosomes rises as a mother’s age increases, which is why obstetricians offer every woman 35 and older screening tests for Down syndrome and other chromosomal disorders. If testing reveals a potential problem, your doctor may recommend further testing and refer you to a genetic counselor. 

A history of stillbirths or multiple miscarriages. 
Though the cause isn’t always identifiable, chromosomal abnormalities are sometimes to blame. A genetic counselor may be able to identify the culprit and assess the risk of recurrence.

Health conditions and/or medications that could affect the fetus. 
 Women with diabetes, for example, have a higher risk of delivering a baby with birth defects. The same is true for women with epilepsy, though it’s unclear whether the disease itself or the medications that treat it are to blame, says Jones.

-- By Jessica Brown

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