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"Development of Patient-Derived Sex Chromosome Aneuploidy Reference Materials for NIPT"

Sex chromosome aneuploidies (SCAs) are genetic conditions caused by abnormalities in the number of X and Y sex chromosomes, which include 45, X (Turner syndrome), 47, XXY (Klinefelter syndrome), and 47, XYY (Jacobs syndrome). With a combined incidence of ~1 in 400 live births, SCAs occur more frequently than trisomy 21 (1:700). The majority of commercially available cell-free DNA (cfDNA) screens, also known as non-invasive prenatal tests (NIPT), can provide optional sex aneuploidy analysis.

Guidelines recommend the use of external run controls to validate test performance for SCAs when NIPTs are first implemented in a clinical lab and for routine performance monitoring. However, this can be problematic due to the rarity, low volume, and ethical considerations in obtaining clinical samples. This is especially important as current NIPT technologies have a lower sensitivity and positive predictive value for SCAs as compared to trisomy 21.

This poster from LGC SeraCare presents the development, characterization, and clinical performance of novel SNP-matched sex chromosome aneuploidy reference materials on several commercial NIPT assays.

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