June 2, 2026 · Prenatal diagnosis · DOI: 10.1002/pd.70190

Impact of Prenatal Cell-Free DNA Screening on Sex Chromosome Aneuploidy Diagnoses in Infants and Children

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The authors aimed to evaluate the impact of prenatal cell-free DNA (cfDNA) screening on the diagnostic rates of sex chromosome aneuploidy (SCA) in infants and children. Their analysis revealed that the introduction of cfDNA screening was associated with a significant increase in SCA diagnoses among infants, while no notable change was observed in children, indicating that cfDNA screening may facilitate earlier detection of SCAs in younger populations.

Ellen Kim DeLuca, Ann Chen Wu, Fang Zhang, Davene R Wright, Anjali Kaimal, Ted Lee

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