Prenatal Ultrasound and Genetic Analysis of PIK3CA-Related Fetal Overgrowth: A Case Report

Abstract excerpt

<title>Abstract</title> <p> <bold>Objective</bold> To analyze the ultrasonographic features and genetic etiology of fetal overgrowth caused by PIK3CA variant, and to provide references for prenatal diagnosis and genetic counseling. <bold>Method</bold> Whole exome sequencing was performed on the fetus and her parents. Sanger sequencing was used to verify the candidate pathogenic genes. <bold>Result</bold> At...

Topics

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• Class I Phosphatidylinositol 3-Kinases
• Diagnosis, Differential
• Disease Management
• Genetic Association Studies
• Genetic Predisposition to Disease
• Genetic Testing
• Growth Disorders
• Prenatal Diagnosis

Identifiers and source

Literature Corpus work

72ce535c-79bc-5989-a5ae-855dc6944106

DOI

10.21203/rs.3.rs-6477397/v1