Quantifying the proportion of women at risk of an FNAIT pregnancy in diverse populations in the United States
This poster, presented at the 2024 American Society of Human Genetics Meeting, November 5–9 (Denver, CO), details the first study to report FNAIT risk across diverse ancestries using data from genetic databases to calculate the expected number of women carrying underlying causal genetic variants. The study suggests that nearly 20,000 pregnancies in the US are at higher FNAIT risk each year – a significantly greater number than previously estimated – and supports the case for screening all pregnant women for potential FNAIT risk, regardless of race and ethnicity.
Estimating the Prevalence of Late-Onset Fabry Disease in the United States in 2024
This poster, prepared for the World Orphan Drug Congress Europe 2024, Barcelona (October 23–25, 2024), presents HealthLumen's work on estimating the prevalence of late-onset Fabry disease in the US in 2024 by analysing selected GLA variants mostly associated with late-onset Fabry disease, projecting their allele frequencies to the US population, and applying penetrance data to determine the number of symptomatic carriers. The carrier and symptomatic populations of Fabry disease in the US in 2024 according to the 8 variants included for analysis in this study are: 24,845 female carriers, of whom 17,392 will develop symptoms, and 12,024 male carriers, all of whom will develop symptoms.