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Pregnancy

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How Widespread Prenatal Testing for Microdeletions Can Hurt Patients and Why the Genetic Testing Industry Needs More Accountability

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ACOG Guidelines on Prenatal Screening for Aneuploidy

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Carrier Screening Tests for Expecting Parents: A Discussion on VUS

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Attending Alone: Pregnancy Appointments During COVID-19

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What Does A Genetic Counselor Do, Anyway?

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99% Accurate: What Does it Really Mean??

Pregnancy

How Widespread Prenatal Testing for Microdeletions Can Hurt Patients and Why the Genetic Testing Industry Needs More Accountability

by Katie Stoll The New York Times published an important investigative piece this week, exploring concerns about expanded prenatal genetic screening. Specifically, the article focuses on the practice of prenatal screening for the possibility of a microdeletion condition in the fetus. The authors Sarah Kliff and Aatish Bhatia walk readers through some of the microdeletions that are …

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ACOG Guidelines on Prenatal Screening for Aneuploidy

In October 2020 the American College of Obstetricians and Gynecologists (ACOG) and the Society of Maternal Fetal Medicine (SMFM) released an updated practice bulletin regarding genetic screening and testing for chromosomal abnormalities during pregnancy. You may ask, why is this important? Why or how does this impact me?  Let’s start with, who are these organizations …

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Carrier Screening Tests for Expecting Parents: A Discussion on VUS

My colleagues and I were recently discussing some issues around carrier screening, particularly when it comes to variants of uncertain significance (VUS). As the name implies, VUSs are changes that are found in a gene that have not been seen enough to know whether they affect how the gene works (and thus can cause disease) …

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