What is prenatal genetic testing?

In this episode of All Access DNA, we talk to Samantha Stover, a reproductive genetic counselor, about prenatal diagnostic testing. We discuss Sam’s journey into genetic counseling, and the differences between screening and diagnostic testing methods such as chorionic villus sampling (CVS) and amniocentesis. The conversation also touches on the conditions that can be detected through these tests and the benefits, risks, and limitations of genetic testing. Sam emphasizes the importance of informed consent, patient autonomy, and the emotional challenges faced by patients. She discusses the variability in insurance coverage and the necessity of understanding each patient's unique situation. 

Key Takeaways

• Advanced maternal age is defined as 35 years and older, but the risks are not as clear-cut as once thought.
• Screening tests provide probabilities, while diagnostic tests aim for definitive answers.
• CVS and amniocentesis are the primary methods for prenatal diagnostic testing.
• The accuracy of CVS and amniocentesis is high, but not 100%. Both tests have a risk for miscarriage, which can be less than 1% but is dependent on the clinic.
• The context of ultrasound findings is crucial in interpreting genetic test results.
• Patients have the ultimate choice regarding prenatal diagnostic testing.
• Diagnostic testing serves multiple purposes beyond termination decisions.
• Access to genetic testing can be inequitable for some patients.
• The psychosocial component of genetic counseling is vital.

Samantha Stover is a Reproductive Genetic Counselor in the Division of Maternal Fetal Medicine and Assistant in Obstetrics and Gynecology at Vanderbilt University Medical Center. She has a Bachelor’s of Science in Zoology from North Carolina State University and a Master’s of Science in Genetic Counseling from The University of Alabama at Birmingham School of Health Professions. She received her board certification from the American Board of Genetic Counseling in 2014. Sam has over a decade's experience providing counseling for patients across the reproductive genetics arc, and strongly believes that reproductive autonomy is a core value of the field. As a female genetic counselor with narcolepsy and cataplexy, she lives the intersection of disability rights, genetics, and reproductive autonomy.

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Here are more resources related to today’s topic:

• Practice Bulletin on Prenatal Diagnostic Testing for Genetic Disorders from the American College of Obstetricians and Gynecologists
• Information on prenatal genetic diagnostic tests from the American College of Obstetricians and Gynecologists
• “Chromosomal Mosaicism: Origins and Clinical Implications in Preimplantation and Prenatal Diagnosis” by B Levy, E H