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Proactive genetic testing looks at a person’s DNA to identify any genetic changes that might increase their risk of developing certain health conditions, like cancer or heart disease, even if they don’t have any symptoms. The value of this testing is that it can give individuals a heads-up about potential health risks, so they can make informed choices about lifestyle changes, screening tests, or other preventive measures. However, deciding whether to undergo proactive genetic testing is a personal choice that can feel overwhelming. A genetic counselor can help by explaining what the results could mean, discussing the benefits and limitations of the test, and guiding patients through their options. They can also help patients consider how testing may impact family members and address any concerns about privacy.

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Genetic counselors can support individuals and families in many ways as they plan to grow their families, regardless of their unique situation. They can help people understand how genetics might impact their pregnancy or the health of a future child, especially if there’s a family history of certain genetic conditions. For couples or individuals using fertility treatments, a genetic counselor can explain how genetic testing might guide their options. For those considering adoption, surrogacy, or donor eggs or sperm, a genetic counselor can offer insights into genetic backgrounds. They’re also there to help same-sex couples and single parents navigate genetic questions. In every situation, genetic counselors provide clear, compassionate guidance to help people feel confident and informed about their family-building choices.

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Genetic Testing 
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Created by and used with the permission of Modern Reproduction

Cell Free Fetal DNA

(i.e. NIPT)

Amniocentesis

Chorionic Villi Sampling (CVS)

Preimplantation Genetic Testing for Aneuploidy (PGT-A)

What is genetic counseling?

  • Genetic counseling is a specialized field within healthcare that focuses on helping individuals and families understand how genetic factors contribute to disease risk, inheritance patterns, and potential health issues. Genetic counselors are trained professionals with expertise in genetics and counseling.

What can I expect during my appointment?

  • Assessment and Risk Evaluation: Depending on the type of session, we will ask questions about your pregnancy, personal, and family history to assess the risk of genetic conditions or diseases.

  • Education and Communication: We will discuss various topics which can include genetic conditions, inheritance patterns, and available testing options. Through this discussion, a goal is to ensure complex genetic concepts are explain in understandable terms that help you make informed decisions about your health.

  • Counseling and Support: Emotional support, guidance, and counseling are provided as it relates to genetic testing, family planning, or treatment options.

  • Interpretation of Test Results: If applicable, we will review your genetic  test results and explain their potential implications, including the likelihood of developing a genetic condition, potential treatment options, and the risk of passing conditions to future generations.

  • Advocacy and Referral: Finally, we will provide resources, such as additional education, healthcare recommendations, or support information.

What are some indications for genetic counseling?

  • Personal or family history of a birth defect, intellectual disabilities, autism, or genetic condition (i.e. cystic fibrosis, sickle cell anemia, MCAD)

  • Concern for the potential effects of medication, exposures, or maternal conditions (such as diabetes or seizures) during pregnancy

  • A history of infertility or recurrent pregnancy loss

  • Advanced maternal age (>35 at the time of delivery)

  • Advanced paternal age (>40 at the time of conception)

  • Questions about in vitro fertilization, egg or sperm donors, and preimplantation genetic testing

  • Carrier screening prior to or during a pregnancy

  • Prenatal testing and pregnancy-related genetic concerns

  • Questions about healthy screening options for the general population or for those who do not know their family health history

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