OP054: Chromosomal microarray analysis for open neural tube defect: The prevalence of significant results and implications on in utero repair

Abstract

Open neural tube defects (ONTD) are the second-most-common major congenital anomaly, and have been associated with environmental insults or genetic factors. Prenatal screening and diagnosis are widely available, and in utero repair has demonstrated superior outcomes for eligible patients. The Management of Myelomeningocele Study (MOMS) required a normal karyotype as one of the eligibility criteria for in utero repair. However, current guidelines recommend genetic testing by chromosomal microarray analysis (CMA) when a major congenital anomaly is detected prenatally.