Resident Ann & Robert H. Lurie Children's Hospital of Chicago Chicago, Illinois, United States
Background: The fetal consultation process for Agenesis of the Corpus Callosum (ACC) has developed over time to include genetic testing, fetal imaging, and evaluating for coexisting malformations that is helpful in the differential diagnosis and prognosis. There is no standardized process on what type of genetic test to perform and there are not many studies that have shown the benefits of the different types of genetic testing. This study could provide data that will guide neonatal neurologists to know what genetic testing they should recommend during a fetal consult and what the results could signify. Objective: The goal of this study is to review the genetic testing results of patients who have been diagnosed with Isolated and Complex ACC and compare practices over the last 10 years. Design/Methods: A retrospective study of infants diagnosed with ACC at Lurie Children’s from Jan 2013- Oct 2023. Data will include maternal demographics and social history as well as the infant's birth year, biologic sex, race, diagnosis (isolated vs complex ACC; if complex, which additional anomalies were known (ex: renal, cardiac, other brain malformations)), pre and postnatal genetic testing results (cell-free DNA, amniocentesis- chromosomal microarray, gene panel testing, whole exome sequencing), pathogenic vs nonpathogenic genetic test result, pregnancy outcome (live birth or termination), and results of any post-natal MRIs completed in first 3 months. Will analyze the data using chi-square analysis and t-test for continuous data to determine if there has been a change in practice over the last ten years in terms of the type of genetic testing that is being carried out on infants with diagnosis of ACC and to compare the success rate and influence of the pre-natal test options. Will identify the most common genetic disorders or mutations associated with ACC, isolated or complex. Will analyze for any patterns in the racial or social backgrounds. IRB has been submitted to access medical records and it is currently pending approval. Will obtain the data by January and statistical analysis in Feb.
