Neonatal ten-year retrospective study on neural tube defects in a second level University Hospital.
Clinical management
NTDs
Neurodevelopmental follow-up
Newborn
Prevention
Spina bifida
Journal
Italian journal of pediatrics
ISSN: 1824-7288
Titre abrégé: Ital J Pediatr
Pays: England
ID NLM: 101510759
Informations de publication
Date de publication:
24 May 2020
24 May 2020
Historique:
received:
24
04
2020
accepted:
19
05
2020
entrez:
26
5
2020
pubmed:
26
5
2020
medline:
27
4
2021
Statut:
epublish
Résumé
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. 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. 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. 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.
Sections du résumé
BACKGROUND
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
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
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
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.
Identifiants
pubmed: 32448340
doi: 10.1186/s13052-020-00836-1
pii: 10.1186/s13052-020-00836-1
pmc: PMC7247239
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
72Références
Mol Genet Genomic Med. 2019 Jan;7(1):e00467
pubmed: 30415495
Acta Paediatr. 2017 May;106(5):837-840
pubmed: 28135771
Cochrane Database Syst Rev. 2015 Dec 14;(12):CD007950
pubmed: 26662928
Neurosurg Focus. 2020 Mar 1;48(3):E14
pubmed: 32114550
Neurospine. 2019 Dec;16(4):715-727
pubmed: 31284336
Ann N Y Acad Sci. 2018 Feb;1414(1):31-46
pubmed: 29363759
Clin Case Rep. 2018 Jan 13;6(2):399-401
pubmed: 29445485
Dis Model Mech. 2019 Nov 14;12(11):
pubmed: 31628096
PLoS One. 2016 Apr 11;11(4):e0151586
pubmed: 27064786
Saudi Med J. 2014 Dec;35 Suppl 1:S5-S14
pubmed: 25551113
Neurochirurgie. 2015 Aug;61(4):250-4
pubmed: 26123614
Neurosurg Focus. 2018 Oct;45(4):E20
pubmed: 30269587
Ital J Pediatr. 2018 Jan 26;44(1):19
pubmed: 29373986
Annu Rev Neurosci. 2014;37:221-42
pubmed: 25032496
Front Neurosci. 2019 Nov 29;13:1285
pubmed: 31849593
Ital J Pediatr. 2019 Nov 29;45(1):152
pubmed: 31783883
J Pediatr Rehabil Med. 2019;12(4):345-359
pubmed: 31744031
MMWR Morb Mortal Wkly Rep. 2015 Jan 16;64(1):1-5
pubmed: 25590678
Pediatr Neurosurg. 2007;43(3):236-48
pubmed: 17409793
Ginekol Pol. 2020;91(3):123-131
pubmed: 32266952
Cell Res. 2019 Sep;29(9):776
pubmed: 31346254
Birth Defects Res A Clin Mol Teratol. 2016 Jul;106(7):520-9
pubmed: 27418029
Science. 2013 Mar 1;339(6123):1222002
pubmed: 23449594