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Case Reports: Rare disease
Feingold syndrome type 1: a rare cause of fetal microcephaly (prenatal diagnosis)
  1. Inês Gouveia1,
  2. Ana Filipa Geraldo2,
  3. Cristina Godinho1 and
  4. Sérgio Castedo3,4
  1. 1Obstetrics and Gynecology, Centro Hospitalar de Vila Nova de Gaia Espinho EPE, Vila Nova de Gaia, Portugal
  2. 2Diagnostic Neuroradiology Unit, Radiology Department, Centro Hospitalar de Vila Nova de Gaia Espinho EPE, Vila Nova de Gaia, Portugal
  3. 3Genetics Department of Faculty of Medicine, Universidade do Porto, Porto, Portugal
  4. 4Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal
  1. Correspondence to Dr Inês Gouveia; inescfmgouveia{at}gmail.com

Abstract

We report a case of fetal microcephaly found during the second trimester ultrasound and confirmed by further ultrasound scans and fetal MRI. The array comparative genomic hybridisation analysis of the fetus and the male parent showed a 1.5 Mb deletion overlapping the Feingold syndrome region, an autosomal dominant syndrome that can cause microcephaly, facial/hand abnormalities, mild neurodevelopmental delay and others. This case illustrates the need for a detailed investigation by a multidisciplinary team to provide prenatal counselling regarding a postnatal outcome to the parents and orient their decision towards the continuation or termination of pregnancy.

  • Pregnancy
  • Neuroimaging
  • Genetic screening / counselling

https://doi.org/10.1136/bcr-2022-254366

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    Footnotes

    • Contributors IG, the main author, contributed to the conception and design, acquisition, analysis and interpretation of data, drafting and revision of the manuscript and administrative technical or material support. AFG contributed to the acquisition, analysis and interpretation of data, supervision and revision of the manuscript. CG contributed to the conception and design of the manuscript, to the acquisition, analysis and interpretation of data, besides also the supervision and revision of the manuscript. SC contributed to the acquisition, analysis and interpretation of data, supervision and revision of the manuscript.

    • 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.