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

Roni ZemetEyal KrispinR M JohnsonN R KumarL E WesterfieldS StoverD G MannJ CastilloH A CastilloAhmed A NassrMagdalena Sanz CortesR DonepudiJimmy EspinozaW E WhiteheadMichael A BelfortA A ShamshirsazI B Van den Veyver
Published in: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology (2023)
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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