The clinical features of paediatric neural tube defects changed in a tertiary care centre between 1997 and 2015

Gregersen, Nina; Kvist, Kolja; Hindsø, Klaus; Born, Alfred Peter; Hoei‐Hansen, Christina E.

doi:10.1111/apa.13766

Cited by 1 publication

(2 citation statements)

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“…The ongoing genomic revolution will indeed offer the possibility to carry out genomic projects, with the aim of identifying new variants implicated in the biologic basis of NTDs [16][17][18]. The low rate of NTDs observed in our case series, even more marked than that currently found in HICs [8,[19][20][21], may be explained by some plausible factors: a likely high number of prenatal diagnoses and abortions in our setting, and the phenomenon of health emigration (from Sicily to central-northern Italian regions), that may have contributed to the reduction/underestimation of our cases.…”

Section: Discussionmentioning

confidence: 87%

“…Therefore, also in presence of a low number of cases of NTDs, like those found in our report, prevention measures need to be improved and implemented even in HICs, also in light of the increased risks of short and long-term morbidity and disability affecting these subjects. These unfavorable outcomes are still highly prevalent also in HICs [9,19]. Thus, despite the achievement of advanced standards of care and the improvements in neonatological management and surgical techniques [8,25,26], they have been observed also in some of our patients.…”

Section: Discussionmentioning

confidence: 91%

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Neonatal ten-year retrospective study on neural tube defects in a second level University Hospital

et al. 2020

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Background: 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. Methods: The 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. Results: In 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. Conclusions: This 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.

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