Abstract
BackgroundAim of this retrospective study was to describe clinical characteristics, diagnostic work-up, management and follow-up of newborns with neural tube defects (NTDs), admitted to the Mother and Child Department of the University Hospital of Palermo, in a ten years period.MethodsThe medical records of 7 newborns (5 males and 2 females) admitted, over a 10-year period from January 2010 to March 2020, to our Department on the first day of life were reviewed. Analyzed data were related to familiar and/or maternal risk factors (consanguinity, maternal preexisting and/or gestational diseases, exposure to teratogen/infectious agents, lack of preconception folic acid supplement), demographic (ethnicity/origin, residence) and clinical features (eventual use of assisted reproduction techniques, prenatal diagnosis, gestational age, fetal presentation, type of delivery, birth weight, preoperative imaging, antibiotics and analgesics use, description of the surgery intervention, length of hospital stay, comorbidities, complications), and follow-up.ResultsIn our sample we observed a wide spectrum of NTDs: 3 newborns had open NTDs, namely myelomeningocele (2 lumbosacral, one of which associated with extradural lipoma, and 1 sacral), and 4 closed ones, including 2 with meningocele (occipital), 1 filar lipoma associated with dermal sinus, and 1 terminal myelocystocele. Our patients were discharged between 8 and 22 days of life.The neurodevelopmental follow-up showed a favorable outcome for 4 of the 7 patients, and the appearance over time of neurological impairment (motor and/or autonomic) in the newborns with open NTDs.ConclusionsThis study describes familiar and/or maternal risk factors and demographic and clinical features of a single-center series of newborns with NTDs. It may provide a further outline of the actual phenotypic spectrum of these malformations, and new insights into epidemiological aspects and comprehensive management of the patients, including diagnostic work-up and follow-up evaluations.
Highlights
Aim of this retrospective study was to describe clinical characteristics, diagnostic work-up, management and follow-up of newborns with neural tube defects (NTDs), admitted to the Mother and Child Department of the University Hospital of Palermo, in a ten years period
We report on a ten years retrospective study of newborns with NTDs assisted at the Mother and Child Department of the University Hospital of Palermo (Sicily, Italy)
Data collected by neonatal records and follow-up charts were related to familiar and/or maternal risk factors, demographic, clinical features, and neurodevelopmental outcomes
Summary
Neural tube defects (NTDs) are congenital malformations of the central nervous system [1]. They are caused by partial/incomplete closure of the neural tube during embryogenesis, between 21 and 28 days after conception [2, 3]. Disorders of primary neurulation include craniorachischisis in which the neural tube fails to initiate closure, leaving most of the brain and the entire spine open. The cranial and/or spinal neural folds may fail to close generating exencephaly/anencephaly and open spina bifida (myelomeningocele). Recent evidences support a post-neurulation origin for encephalocele and demonstrate that brain herniation and failure of brain/spine neural tube closure can all occur as possible developmental outcomes of an identical genetic defect [6]. Worldwide average incidence is 1.8/1000 births (more than 300,000 affected infants born every year), with significant geographic (ethnic, environmental, socioeconomic) variations (> 1 to around 10/1000 births in middle and lowincome countries (LMICs) and decreasing incidence in high-income countries (HICs, 0.6/1000 in USA) in the recent decades [8, 9]
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