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Case Reports: Rare disease
Prenatal diagnosis of craniorachischisis totalis
  1. Paulina Costa,
  2. Andreia Fontoura Oliveira and
  3. António Baptista Vilaça
  1. Department of Gynecology and Obstetrics, Centro Hospitalar do Médio Ave EPE, Santo Tirso, Portugal
  1. Correspondence to Dr Andreia Fontoura Oliveira; andreiafontouraoliveira{at}gmail.com

Abstract

Craniorachischisis totalis (anencephaly with total open spina bifida) is the most severe form of neural tube defects. The exact aetiology of neural tube defects remains poorly understood. We report a case of a primigravida in her 20s with a fetus in which craniorachischisis totalis was diagnosed during the first-trimester ultrasound at 11 weeks of gestation. The parents opted for pregnancy termination and the diagnosis was confirmed postnatally. Besides the lack of folic acid supplementation during preconception, no other risk factor was found. This case highlights the importance of the first-trimester ultrasound in the diagnosis of severe malformations. The right diagnosis is crucial for future prenatal counselling, yet investigation is still required to better understand the aetiology behind neural tube defects and assess the possibility of underlying genetic features, thus enabling better counselling.

  • Genetic screening / counselling
  • Pregnancy

https://doi.org/10.1136/bcr-2021-244682

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    Footnotes

    • Contributors PC was responsible for the conception of the work, data collection and analysis, and draft of the article. Clinical revision of the article was done by authors AFO, PC and ABV, and final approval of the version to be published by ABV.

    • 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.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.