Who Should See a Genetic Counselor?

We've been discussing genetic counseling this week: what it is, who it benefits from it and more. But one of the biggest questions is centered on who should see a genetic counselor.

While preconception genetic counseling is a good idea for anyone, it is especially important to:

• Women over age 35 and men older than age 45
• Those using Assisted Reproductive Technology (ART)
• Those using fertility treatments to combat unknown infertility issues
• Those with a family history of recurrent pregnancy loss, infant death, mental retardation, birth defects or specific genetic disorders

Those who are considering using ART methods to conceive are especially likely to benefit from preconception genetic consultations. They can get information about the risks, benefits and limitations of preimplantation genetic diagnosis (PGD) and other ART procedures and discuss and compare prenatal screening and diagnostic testing options.

People using fertility treatments to combat unknown fertility issues are also good candidates for preconception genetic counseling. It is important to understand that they may pass on inherited forms of infertility to their offspring by using certain reproductive technologies. Additionally, certain causes of infertility, such as structural chromosome abnormality, can lead to miscarriage or the birth of a child with major birth defects. Preconception genetic counseling can provide education about alternatives and options.

Too often, people are left wondering why no one offered them genetic screening and information before they got pregnant, so that they could avoid dealing with stressful and unexpected situations arising from genetic issues during their pregnancies. In other cases,  they just don't get the information they need.

For example, in one study of people who used PGD, even those who utilized it had limited knowledge of PGD even though they used it to conceive. The majority of study participants didn't understand which types of health issues were screened using this tool, and assumed they didn't need to consider prenatal screening or diagnostic testing during pregnancy if they used PGD.

When people aren't aware that prenatal diagnosis is recommended after using PGD, they may be upset when they realize  the un-screened medical risks to their offspring. In this instance, a preconception genetic consultation can help because it provides time to carefully consider options, ask questions and acquire support to develop their own fertility and prenatal management plans.