ArticleInternational journal of women's health2025
Prenatal Screening for Monosomy X in the First Trimester: A Comparison of a Thai Predictive Model and the Fetal Medicine Foundation Algorithm.
Article in International journal of women's health, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Purpose: This study aimed to evaluate the performance of the first-trimester Fetal Medicine Foundation (FMF) algorithm in predicting monosomy X and compare it with a Thai NT-based model using nuchal translucency (NT) alone or combined with maternal serum markers. Patients and Methods: This retrospective study analyzed 6,860 singleton pregnancies screened at 11-13+6 weeks. Monosomy X risk was estimated based on the trisomy 21 risk calculated by the FMF algorithm and Thai logistic regression models based on NT alone, NT with pregnancy-associated plasma protein A (PAPP-A), and NT with PAPP-A and beta-human chorionic gonadotropin (β-hCG). Results: Thirty cases of monosomy X were identified (0.4%), all of which were confirmed prenatally by invasive diagnostic procedures, including amniocentesis, chorionic villus sampling, or cordocentesis. The Thai model using NT and PAPP-A had the highest area under the receiver operating characteristic curve (AUC) of 0.953, with a sensitivity of 86.7% and a specificity of 94.1%. NT alone also showed strong performance (sensitivity 83.3%, specificity 94.4%). The FMF algorithm achieved the highest specificity (97.9%) but lower sensitivity (53.3%). Adding β-hCG did not improve performance. Conclusion: NT alone or combined with PAPP-A outperformed the FMF algorithm for monosomy X screening, with NT alone being particularly useful in settings without biochemical testing. The FMF algorithm, while primarily designed for trisomy 21 risk estimation, can also provide monosomy X risk within the same report at no additional cost, which is especially valuable in resource-limited settings where biochemical testing or NIPT is not widely accessible.
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