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Clinical presentation and outcomes of neonates born with neural tube defects- an experience from a level III B NICU in Western India

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Abstract

Purpose

Neural tube defects (NTDs) are one of the most common congenital anomalies and a cause of chronic disability. The study was done to study outcomes of neural tube defects admitted at a tertiary level neonatal intensive care unit (NICU) from 2018 to 2022, a period of 4 years that also coincided with the COVID pandemic. The secondary outcome was to study the clinical presentation, associated anomalies and epidemiological features.

Methods

It was a retrospective observational study; data of infants was obtained from medical records and analysis was done.

Results

Thirty-four neonates were enrolled, of which there were 16 (47%) males and 18 (53%) females. History of pre-pregnancy maternal folate intake was present in 4 (11.7%) cases. 33 (97%) babies were diagnosed with meningomyelocele (MMC) and one each had anencephaly, iniencephaly and encephalocele, of which one had frontal and two had occipital encephalocele. The median age of surgery was 16 days of life with primary repair being the most common procedure followed by MMC repair with VP shunt. Twenty babies (58.8%) were discharged successfully, while 9 (26.5%) expired and 5 (14.7%) were discharged against medical advice; which can be attributed to the financial problems of the patients in a developing country. The overall deaths in our series were four (26.5%) which is slightly higher than other studies which may be due to the fact that this study was conducted during the COVID era with lesser rates of folate supplementation, reduced access to prenatal diagnosis coupled with poor follow-up and compliance of patients post-surgical repair.

Conclusion

This study emphasizes the importance of periconceptional folic acid supplementation, prenatal diagnosis, early surgery and meticulous follow-up as being pivotal to improving outcomes in children with NTDs.

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Abbreviations

CSF:

Cerebrospinal Fluid

EVD:

External ventricular device

MMC:

Meningomyelocele

NTDs:

Neural tube defects

NICU:

Neonatal intensive care unit

VP Shunt:

Ventriculoperitoneal shunt

TIFFA:

Targeted imaging for fetal anomalies

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Authors and Affiliations

Authors

Contributions

All authors contributed to the study conception and design. Material preparation, data collection and analysis were performed by Srijan Singh, Sushant Mane, Suhani Jain and Aditi Bajaj. The first draft of the manuscript was written by Srijan Singh and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.

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Correspondence to Srijan Singh.

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Author's summary

What is known: Neural tube defects (NTDs) are one of the common birth defects and lead to disability. The incidence of neural tube defects (NTDs) (of which myelomeningocele is the most common) varies based on ethnic, geographic, and nutritional factors.

What is new: Meningomyelocele (MMC) is the most common NTD in Western India with the most common location being the lower back, and most frequently associated defect being hydrocephalus. COVID pandemic and lockdowns had reduced access to antenatal care, which is a major contributory factor to reduced rates of prenatal diagnosis. The overall mortality in our series was four (26.5%) secondary to meningitis and respiratory compromise, which is slightly higher than other studies due to the fact that this study was conducted during the COVID era with poor follow-up and compliance of patients. This study highlights the importance of routine pre-pregnancy folic acid supplementation, antenatal diagnosis, early surgery and proper follow-up for improving outcomes and reducing long-term impairments in children with NTDs.

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Singh, S., Mane, S., Jain, S. et al. Clinical presentation and outcomes of neonates born with neural tube defects- an experience from a level III B NICU in Western India. Childs Nerv Syst 40, 163–170 (2024). https://doi.org/10.1007/s00381-023-06078-w

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