Aneuploidy Screening by Dr C. Chirume

The presentation by Dr C. Chirume, part of the FMSZ 2026 Refresher Course, addresses aneuploidy screening in the context of Zimbabwe. It begins by highlighting challenges such as rising maternal age, late booking, and limited access to invasive testing. The speaker distinguishes between screening and diagnostic tests, explaining various screening methods including the combined test (nuchal translucency, serum markers, maternal age), second-trimester serum tests (quadruple test), and non-invasive prenatal testing (NIPT). He emphasizes the importance of combining methods for better detection rates and discusses the concept of positive predictive value. The talk covers soft markers, their likelihood ratios, and how to calculate risk. It also touches on the future integration of AI and precision medicine, while acknowledging cost and access barriers. Two clinical scenarios are presented to illustrate decision-making. The key take-home message is that every pregnant woman should be screened, and clinicians should know their limits and the limitations of each test.