Multicenter clinical experience with non‐invasive cell‐free DNA screening for monosomy X and related X‐chromosome variants

This study aimed to investigate the influence of fetal anomalies and different X chromosome variants on Cell-free DNA (cfDNA) screening results for monosomy X. The study analyzed 55 pregnancies with prenatal cfDNA screening and karyotype results. The results showed that 48 out of 55 cfDNA results were high-risk for monosomy X, of which 23 were true positive and 25 were false positive. In the absence of fetal anomalies, the high-risk cfDNA result was often a false positive or X-chromosome variant, but when there were fetal anomalies, the result was more likely to be a true positive.