Our communication presents a prenatally detected case with severe spinal defect detected in the first trimester of pregnancy, accompanied by a large skin-covered myelomeningocele but normal cranio-cerebral structural appearance.
These findings suggest that in the first trimester, the extent of the spinal defect, the cerebrospinal fluid leakage to a large, but skin-covered, meningocele and fixation of the spinal cord at the lesion are not sufficient to determine downward hindbrain displacement and the development of secondary signs for open spina bifida.
Therefore, we suggest a careful evaluation of the fetal cerebral features if a meningocele is detected. The presence of the skin covering the lesion may not be evident in the first trimester, but the absence of intracranial open spina bifida markers may indicate a ‘closed’ spinal defect, which generally associates a good neurological outcome. Also, studies aimed to investigate the accuracy of the intracranial features for open spina bifida detection should consider the possibility of ‘closed’ myelomeningoceles to avoid incorrect correlations.
- spina bifida
- prenatal diagnosis
- first trimester
- anomaly scan
- body-stalk anomaly
- OEIS (omphalocele-exstrophy-imperforate anus-spinal defects)
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Contributors DRU and LGZ have a substantial contribution to the design and implementation of the study that takes place in our unit regarding the early detection of fetal CNS abnormalities and their pathology confirmation. RGC contributed to the initial acquisition and analysis of the data. LGZ drafted the manuscript. DGI has a substantial contribution to the interpretation of the data and revised the paper.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Patient consent for publication Obtained.
Ethics approval The research comply with the guidelines for human studies and was conducted ethically in accordance with the World Medical Association Declaration of Helsinki. The study protocol was approved by the University’s Committee on Human Research.
Provenance and peer review Not commissioned; externally peer reviewed.