Clinical Chemistry

Assessment of Placental Chromosomal Mosaicism during Prenatal Cell-Free DNA Screening Refines Positive Predictive Values for Fetal Trisomy

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Clin Chem. 2025 Jul 28:hvaf076. doi: 10.1093/clinchem/hvaf076. Online ahead of print. ABSTRACT BACKGROUND: Confined placental mosaicism can cause false-positive prenatal cell-free DNA (cfDNA) screening results, thereby reducing the positive predictive value (PPV) of the test. We sought to investigate how PPVs for the common fetal trisomies can be refined based on the presence or absence … Read more

Continuous Glucose Monitors Have Acceptable Accuracy but High Discordance at High and Low Glucose Concentrations in Pediatric Hospitalized Patients

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Clin Chem. 2025 Jul 25:hvaf080. doi: 10.1093/clinchem/hvaf080. Online ahead of print. ABSTRACT BACKGROUND: Continuous glucose monitors (CGMs) assess interstitial glucose concentrations and improve diabetes management in outpatient settings. However, limited studies have assessed CGM performance in hospitalized pediatric patients, especially at high and low glucose thresholds near clinical decision limits. METHODS: This retrospective study included … Read more

Diagnostic Value of Digital Estimates of Trophoblastic Mosaicism in Genome-Wide Cell-Free Fetal DNA Screening

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Clin Chem. 2025 Jul 21:hvaf081. doi: 10.1093/clinchem/hvaf081. Online ahead of print. ABSTRACT BACKGROUND: Cell-free fetal DNA (cffDNA) screening exhibits higher sensitivity and lower false-positive rates (FPRs) compared to combined first-trimester screening for common trisomies. However, additional anomalies on other autosomes detected by genome-wide assays cause anxiety and trigger increased rates of amniocentesis. Here, we evaluated … Read more

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