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Prenatal Genetic Testing: Understanding the Limitations and Risks of Screening Tests

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Prenatal Genetic Testing: Understanding the Limitations and Risks of Screening Tests

Prenatal genetic testing has become a standard practice for many expecting parents, but Obstetrician and Gynecologist Dr. Karla Leavitt is shedding light on the limitations and risks associated with these tests. Dr. Leavitt specializes in Maternal Fetal Medicine and Clinical Genetics and emphasizes the importance of understanding the role of screening tests in prenatal care.

According to Dr. Leavitt, screening or detection tests primarily use blood to estimate the risk of genetic conditions such as Down syndrome, trisomy 13, and trisomy 18. However, she clarifies that these tests evaluate only a few chromosomes, not all 23 pairs, and they measure probability rather than providing definitive answers.

Dr. Leavitt highlights the significance of DNA fetal libre tests, which have a sensitivity greater than 99.99%. She emphasizes their accessibility and effectiveness compared to other maternal serum tests, which offer a detection rate of around 70%.

When discussing the future of prenatal genetic testing, Dr. Leavitt stresses the importance of informed consent. She advocates for precision and personalized medicine, emphasizing that patients should have access to comprehensive information to make well-informed decisions about whether to undergo genetic testing.

While there is still no recognized profession of genetic counselors in Puerto Rico, Dr. Leavitt underscores the voluntary nature of these tests, emphasizing that patients should have the information available to make their own decisions about prenatal genetic testing.

As prenatal genetic testing continues to evolve, Dr. Leavitt’s insights and recommendations provide valuable guidance for expecting parents navigating the complexities of genetic screening during pregnancy.

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