Reproductive Outcomes Following Open Maternal-Fetal Surgery for Myelomeningocele Closure: Analysis of MOMS Trial Participants.

Background: In utero closure of myelomeningocele has become an accepted alternative in the management of prenatally diagnosed spina bifida. Maternal reproductive risk has been previously described based on registry data and institutional outcomes. Here we aim to provide maternal reproductive outcomes from participants in the Management of Myelomeningocele Study.

Clinical impact of fetal sac size on closed neural tube defects.

Purpose: To evaluate the association between lesion volume and postnatal outcomes in patients with closed spina bifida (SB).

Methods: Single-center retrospective review of all patients diagnosed with a closed SB evaluated between 2013 and 2023. Prenatal lesion volume < 3 mL was categorized as "no sac," and volume ≥ 3 mL was categorized as "sac.

Detailed analysis of hydrocephalus patterns and associated variables in patients after open fetal repair and postnatal myelomeningocele/myeloschisis closure.

Background: Myelomeningocele (MMC) and myeloschisis (MS) are severe neural tube defects that result in neurodevelopmental impairments and hydrocephalus due to prenatal spinal cord exposure to amniotic fluid. Fetal MMC/MS (fMMC/MS) repair has become the standard of care in appropriately selected patients, demonstrating improved outcomes, including a reduction in the need for cerebrospinal fluid (CSF) diversion compared to postnatal MMC/MS (pMMC/MS) closure. This study is a detailed analysis of the incidence, timing, and imaging predictors of hydrocephalus and CSF diversion dependence in fetal repair and postnatal closure patients in the post-MOMS trial era.

Molecular Landscape and Therapeutic Strategies in Pediatric Differentiated Thyroid Carcinoma.

There has been significant progress in understanding the molecular landscape of pediatric differentiated thyroid carcinoma (DTC) over the past 2 decades. Classification of pediatric DFC into 3 tiers, RAS-like mutant, BRAF mutant, and kinase fusions, accurately reflects an increasing risk for invasive behavior, including regional and distant metastasis. In clinical practice, somatic oncogene testing for nodules with indeterminate cytology per the Bethesda System for Reporting Thyroid Cytopathology provides objective data to optimize surgical planning.

Case Report: The importance of genetic counseling for families with hyperinsulinism.

Congenital hyperinsulinism (HI) is the most common cause of persistent hypoglycemia in infancy. Genotype-phenotype correlations directly inform medical care for patients. Understanding the genetic etiology also allows accurate genetic counseling to be provided, illustrated by two families following a diagnosis of HI.