{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T02:23:14Z","timestamp":1769048594966,"version":"3.49.0"},"reference-count":51,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2023,6,2]],"date-time":"2023-06-02T00:00:00Z","timestamp":1685664000000},"content-version":"vor","delay-in-days":1,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ultrasound in Obstet &amp; Gyne"],"published-print":{"date-parts":[[2023,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p><jats:italic>In\u2010utero<\/jats:italic> repair of open neural tube defects (ONTD) is an accepted treatment option with demonstrated superior outcome 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 <jats:italic>in\u2010utero<\/jats:italic> 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 <jats:italic>in\u2010utero<\/jats:italic> ONTD repair.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This was a retrospective cohort study of pregnancies complicated by ONTD that underwent laparotomy\u2010assisted fetoscopic repair or open\u2010hysterotomy fetal surgery at a single tertiary center between September 2011 and July 2021. All patients met the MOMS eligibility criteria and had a normal karyotype. In a subset of the pregnancies (<jats:italic>n<\/jats:italic>\u2009=\u200977), CMA testing was also conducted. We reviewed the CMA results and divided the cohort into two groups according to whether clinically reportable copy\u2010number variants (CNV) were detected (reportable\u2010CNV group) or not (normal\u2010CMA group). Surgical characteristics, complications, and maternal and early neonatal outcomes were compared between the two groups. The primary outcomes were fetal or neonatal death, hydrocephalus, motor function at 12\u2009months of age and walking status at 30\u2009months of age. Standard parametric and non\u2010parametric statistical tests were employed as appropriate.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>During the study period, 146 fetuses with ONTD were eligible for and underwent <jats:italic>in\u2010utero<\/jats:italic> repair. CMA results were available for 77 (52.7%) patients. Of those, 65 (84%) had a normal CMA and 12 (16%) had a reportable CNV, two of which were classified as pathogenic. The first case with a pathogenic CNV was diagnosed with a 749\u2010kb central 22q11.21 deletion spanning low\u2010copy\u2010repeat regions B\u2013D of chromosome 22; the second case was diagnosed with a 1.3\u2010Mb interstitial deletion at 1q21.1q21.2. Maternal demographics, clinical characteristics, operative data and postoperative 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 obstetric and early neonatal outcome between the study groups. Motor function at birth and at 12\u2009months of age, and walking status at 30\u2009months of age, were similar between the two groups.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Standard diagnostic testing with CMA should be offered when an ONTD is detected prenatally, as this approach has implications for counseling regarding prognosis and recurrence risk. Our results indicate that the presence of a clinically reportable CNV should not <jats:italic>a priori<\/jats:italic> affect eligibility for <jats:italic>in\u2010utero<\/jats:italic> repair, as overall pregnancy outcome is similar in these cases to that of cases with normal CMA. Nevertheless, significant CMA results will require a case\u2010by\u2010case multidisciplinary discussion to evaluate eligibility. To generalize the conclusion of this single\u2010center series, a larger, multicenter long\u2010term study should be considered. \u00a9 2023 International Society of Ultrasound in Obstetrics and Gynecology.<\/jats:p><\/jats:sec>","DOI":"10.1002\/uog.26152","type":"journal-article","created":{"date-parts":[[2023,1,7]],"date-time":"2023-01-07T14:57:47Z","timestamp":1673103467000},"page":"719-727","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Implication of chromosomal microarray analysis prior to <i>in\u2010utero<\/i> repair of fetal open neural tube defect"],"prefix":"10.1002","volume":"61","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7746-3594","authenticated-orcid":false,"given":"R.","family":"Zemet","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5859-9528","authenticated-orcid":false,"given":"E.","family":"Krispin","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Division of Fetal Therapy and Surgery and Maternal\u2013Fetal Medicine Baylor College of Medicine and Texas Children's Fetal Center  Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. M.","family":"Johnson","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Division of Fetal Therapy and Surgery and Maternal\u2013Fetal Medicine Baylor College of Medicine and Texas Children's Fetal Center  Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N. R.","family":"Kumar","sequence":"additional","affiliation":[{"name":"School of Medicine Baylor College of Medicine  Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L. E.","family":"Westerfield","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston TX USA"},{"name":"Department of Obstetrics and Gynecology, Division of Maternal\u2013Fetal Medicine and Reproductive and Prenatal Genetics Baylor College of Medicine and Texas Children's Fetal Center  Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Stover","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Division of Maternal\u2013Fetal Medicine Vanderbilt University Medical Center  Nashville TN USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D. G.","family":"Mann","sequence":"additional","affiliation":[{"name":"Department of Pediatric Anesthesiology, Perioperative and Pain Medicine, Clinical Ethics Baylor College of Medicine and Texas Children's Hospital  Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Castillo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Developmental Pediatrics Baylor College of Medicine and Texas Children's Hospital  Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H. A.","family":"Castillo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Developmental Pediatrics Baylor College of Medicine and Texas Children's Hospital  Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1924-7965","authenticated-orcid":false,"given":"A. A.","family":"Nassr","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Division of Fetal Therapy and Surgery and Maternal\u2013Fetal Medicine Baylor College of Medicine and Texas Children's Fetal Center  Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0265-9859","authenticated-orcid":false,"given":"M.","family":"Sanz Cortes","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Division of Fetal Therapy and Surgery and Maternal\u2013Fetal Medicine Baylor College of Medicine and Texas Children's Fetal Center  Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Donepudi","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Division of Fetal Therapy and Surgery and Maternal\u2013Fetal Medicine Baylor College of Medicine and Texas Children's Fetal Center  Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9830-2212","authenticated-orcid":false,"given":"J.","family":"Espinoza","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Division of Fetal Therapy and Surgery and Maternal\u2013Fetal Medicine Baylor College of Medicine and Texas Children's Fetal Center  Houston TX USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W. 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