2022
DOI: 10.1002/pd.6197
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The utility of pathologic examination and comprehensive phenotyping for accurate diagnosis with perinatal exome sequencing

Abstract: Objective: Exome sequencing (ES) offers the ability to assess for variants in thousands of genes and is particularly useful in the setting of fetal anomalies. However, the ES pipeline relies on a thorough understanding of an individual patient's phenotype, which may be limited in the prenatal setting. Additional pathology evaluations in the pre-and postnatal settings can add phenotypic details important for clearly establishing and characterizing a diagnosis.Methods: This is a case series of prenatal ES perfor… Show more

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