Implication of chromosomal microarray analysis prior to in‐utero repair of fetuses with open neural tube defects

In‐utero repair of open neural tube defects (ONTD) is an accepted treatment option with demonstrated superior outcomes for eligible patients. While current guidelines recommend genetic testing by chromosomal microarray analysis (CMA) when a major congenital anomaly is detected prenatally, the requirement for an in‐utero repair, based on the Management of Myelomeningocele Study (MOMS) criteria, is a normal karyotype. This study aims to evaluate if CMA should be recommended as a prerequisite for in‐utero ONTD repair. Standard diagnostic testing with CMA should be offered when an ONTD is detected prenatally, as this approach has implications for counselling about prognosis and recurrence risk. The study results indicate that the presence of a reportable CNV should not a priori affect eligibility for in‐utero repair, as overall outcomes for pregnancies are similar to those with normal CMA. Nevertheless, significant CMA results will require a case‐by‐case multidisciplinary discussion to evaluate eligibility. To generalize the conclusion of this single-centre series, a larger long‐term study should be considered.