Motor function outcomes in children with open prenatal repair of Spina Bifida Aperta at 36-month follow-up: The Zurich cohort.

PURPOSE: This study aimed to describe outcomes of motor function with a special focus on ambulation ability at 36 months among children with open prenatal repair of spina bifida aperta (SB). METHODS: A prospective cohort study was conducted including 87 patients with open prenatal repair of SB at the investigating center born between 2010 and 2018. Anatomic lesion level and motor function level in the neonatal period, as well as motor function level, ambulation status, and use of orthotics and assistive devices at 36 months were assessed. RESULTS: At 36 months, ambulation was assessed in 86 children; of those, 86% (n = 74) were ambulating. Independent of ambulation, orthotics were worn in 81.6% (71/87) and assistive devices in 47.1% (41/87). Children with a lower lumbar or sacral motor function level were the first to reach independent ambulation and were more likely to ambulate at 36 months than children with higher motor function levels (p = < .001). The anatomic lesion level determined on the neonatal MRI correlated with ambulation status at 36 months (p = < 0.001). CONCLUSION: At 36 months, most children with open prenatal repair for SB showed favourable ambulation status. However, most still used assistive devices or orthotics. Anatomic lesion level on neonatal MRI, motor function level during the neonatal period, and motor function level at 36 months were associated with ambulation status at 36 months.

Impact of Brain Malformations on Neurodevelopmental Outcome in Children with a History of Prenatal Surgery for Open Spina Bifida.

INTRODUCTION: This retrospective study investigates brain malformations and their impact on neurodevelopmental outcome in children after prenatal surgery for spina bifida (SB). METHODS: Sixty-one patients were included. On neonatal MRI, SB-associated brain malformations were assessed. Ventricular size, ventriculo-peritoneal shunt (VPS), and endoscopic third ventriculostomy (ETV) were also documented. Neurodevelopment was assessed with the Bayley-III and correlated with brain malformations, ventricular size, and VPS/ETV placement. RESULTS: Chiari II malformation was detected in all patients. Corpus callosum (CC) abnormality was noted in 40%, heterotopies in 35%, and cerebellar parenchymal defects in 11%. 96% had ventriculomegaly; in 46%, VPS/ETV was performed. Cognitive and language testing yielded results in the low-average range (Bayley-III: Cognitive Composite Score 93.6, Language Composite Score 89.7), motor testing was below average (Motor Composite Score 77.4). CC abnormalities, heterotopies, and cerebellar defects were not associated with poorer Bayley-III scores, whereas patients with severe ventriculomegaly performed poorer in all subtests, significantly so for the language composite score. Patients requiring intervention for hydrocephalus had significantly lower scores in motor testing. DISCUSSION/CONCLUSION: Additional brain malformations in open SB do not seem to have an impact on cognitive function at 2 years of age. Severe ventriculomegaly is a risk factor for poorer cognitive outcome; hydrocephalus surgery adds an additional risk for delayed motor function.

Emerging magnetic resonance imaging techniques in open spina bifida in utero.

Magnetic resonance imaging (MRI) has become an essential diagnostic modality for congenital disorders of the central nervous system. Recent advancements have transformed foetal MRI into a clinically feasible tool, and in an effort to find predictors of clinical outcomes in spinal dysraphism, foetal MRI began to unveil its potential. The purpose of our review is to introduce MRI techniques to experts with diverse backgrounds, who are involved in the management of spina bifida. We introduce advanced foetal MRI postprocessing potentially improving the diagnostic work-up. Importantly, we discuss how postprocessing can lead to a more efficient utilisation of foetal or neonatal MRI data to depict relevant anatomical characteristics. We provide a critical perspective on how structural, diffusion and metabolic MRI are utilised in an endeavour to shed light on the correlates of impaired development. We found that the literature is consistent about the value of MRI in providing morphological cues about hydrocephalus development, hindbrain herniation or outcomes related to shunting and motor functioning. MRI techniques, such as foetal diffusion MRI or diffusion tractography, are still far from clinical use; however, postnatal studies using these methods revealed findings that may reflect early neural correlates of upstream neuronal damage in spinal dysraphism.

Fetal surgery for spina bifida in Zurich: results from 150 cases.

PURPOSE: Over the past 10 years, over 150 fetal spina bifida surgeries were performed at the Zurich Center for Fetal Diagnosis and Therapy. This study looks at surrogates for success and failure of this approach. METHODS: We focused on key outcome parameters including hydrocephalus shunt rate at one year, bladder control at 4, independent ambulation at 3 years, and maternal, fetal, and neonatal complications. RESULTS: From the first 150 patients undergoing fetal surgery for spina bifida, 148 (98.7%) were included in the study. Maternal-fetal surgery was uneventful in 143/148 (97%) cases. Intraoperative problems included resuscitation in 4/148 fetuses (2.7%). 1/148 fetuses (0.7%) died on postoperative day 4. Maternal complications included chorioamniotic membrane separation in 22/148 (15%), lung embolism in 3/148 (2.1%), chorioamnionitis in 2/148 (1.4%), AV-block III and uterine rupture in 1/148 each (0.7%). 1/148 (0.7%) newborn death was recorded. Hindbrain herniation was identified preoperatively in 132/148 (90%) fetuses and resolved completely in 119/132 (90%). At one year, 39/106 (37%) children had required a CSF diversion. At 4 years, 4/34 patients (12%) had normal bladder control. At 3 years, 48/57 (84%) walked independently. CONCLUSION: A majority of patients benefitted from prenatal intervention, in that the shunt rate was lower and the rates of continent and walking patients were higher than reported with postnatal care.

Enumerating Microorganism Surrogates for Groundwater Transport Studies Using Solid-Phase Cytometry.

Investigations on the pollution of groundwater with pathogenic microorganisms, e.g. tracer studies for groundwater transport, are constrained by their potential health risk. Thus, microspheres are often used in groundwater transport studies as non-hazardous surrogates for pathogenic microorganisms. Even though pathogenic microorganisms occur at low concentrations in groundwater, current detection methods of microspheres (spectrofluorimetry, flow cytometry and epifluorescence microscopy) have rather high detection limits and are unable to detect rare events. Solid-phase cytometry (SPC) offers the unique capability of reliably quantifying extremely low concentrations of fluorescently labelled microorganisms or microspheres in natural waters, including groundwater. Until now, microspheres have been used in combination with SPC only for instrument calibration purposes and not for environmental applications. In this study, we explored the limits of the SPC methodology for its applicability to groundwater transport studies. The SPC approach proved to be a highly sensitive and reliable enumeration system for microorganism surrogates down to a minimum size of 0.5 µm, in up to 500 ml of groundwater, and 0.75 µm, in up to 1 ml of turbid surface water. Hence, SPC is proposed to be a useful method for enumerating microspheres for groundwater transport studies in the laboratory, as well as in the field when non-toxic, natural products are used.