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Prenatal Exome Sequencing for Fetal Macrocephaly: A Large Prospective Observational Cohort Study

22 May 2025

Abstract excerpt

OBJECTIVE: To assess the diagnostic utility of exome sequencing (ES) in macrocephalic fetuses. METHODS: Fetuses with macrocephaly (head circumference (HC) ≥ +2 SD) and negative chromosomal microarray results were included, who had available trio-ES data. Molecular diagnoses were systematically analyzed. Subgroup analyses were performed on the ES diagnostic yield based on gestational age, HC Z-scores, associated...

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PMID: 40404351
DOI: 10.1002/pd.6818

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