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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. In this study, we aimed to evaluate if CMA should be recommended as a prerequisite for in-utero ONTD repair.This was a retrospective cohort study that included pregnancies complicated by ONTD for which laparotomy-assisted fetoscopic repair or an open hysterotomy fetal surgery was performed at a single tertiary center between September 2011 and July 2021. All patients met the MOMS eligibility criteria and had a normal karyotype. For a subset of the pregnancies (n=77), CMA testing was also conducted. We reviewed the results of the CMA and divided the cohort into two groups: group A - no detected CNV, and group B - reportable CNV detected. We then compared the groups' surgical characteristics, complications, and maternal and early neonatal outcomes. Standard parametric and non-parametric statistical methods were employed as appropriate.One hundred and forty-six fetuses with ONTD were eligible and underwent in-utero repair during the study period. CMA results were available for 77 (52.7%) patients. Of those, 65 (84%) had a normal CMA, and 12 (16%) had a reportable CNV, 2 (2.6%) of which were classified as pathogenic. Maternal demographics, clinical characteristics, operative data, and post-operative complications were similar between those with normal CMA results and those with reportable CNVs. There were no significant differences in gestational age at delivery or any obstetrical and early neonatal outcome between the study groups.Standard diagnostic testing with CMA should be offered when an ONTD is detected prenatally, as this approach has implications for counseling about prognosis and recurrence risk. Our 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-center series, a larger long-term study should be considered. This article is protected by copyright. All rights reserved. |
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