What Are Prenatal Genetic Screening Tests and How Should They be Interpreted?

In its recent article, “When They Warn of Rare Disorders, These Prenatal Tests Are Usually Wrong,” The New York Times published a discussion on the performance of prenatal blood screening tests. The piece, which also looked at the potential impact of results on patients, has fueled an online debate on medical ethics and misinformation. As a patient-centered health intelligence company with deep expertise in reproductive health and medical testing, we see this as a perfect opportunity to inform our partners on population health topics to help them better understand the accuracies (and inaccuracies) of clinical testing. In this guide, we aim to educate readers about the differences between screening and diagnostic tests and, crucially, why “positive” screening results should be interpreted as “further testing is recommended” and “negative” results as “no abnormalities detected; no further testing recommended.”