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Case report
PIEZO1 mutation: a rare aetiology for fetal ascites
  1. Helen Stolyar1,
  2. Teresa Berry2,
  3. Amit Pal Singh3,4 and
  4. Ichhcha Madan5,6
  1. 1Obstetrics and Gynecology, Saint Francis Hospital and Medical Center, Hartford, Connecticut, USA
  2. 2Maternal Fetal Medicine, Saint Francis Hospital and Medical Center, Hartford, Connecticut, USA
  3. 3Department of Nephrology, Mercy Medical Center, Springfield, Massachusetts, USA
  4. 4Department of Nephrology, Baystate Medical Center, Springfield, Massachusetts, USA
  5. 5Maternal fetal Medicine, Trinity Health of New England, Hartford, Connecticut, USA
  6. 6Trinity Health of New England, Hartford, Connecticut, USA
  1. Correspondence to Dr Helen Stolyar; helenstolyar{at}gmail.com

Abstract

We present a case of isolated fetal ascites diagnosed at 20 weeks’ gestation. No aetiology was identified on extensive prenatal workup, including prenatal microarray. The patient terminated the pregnancy at 23 weeks’ gestation. Exome sequencing was performed on the products of conception, which ended up giving insight into a possible cause for the ascites. Two heterozygous missense variants of uncertain significance were identified in the PIEZO1 gene. The paternal variant has been linked to dehydrated hereditary stomatocytosis. The father of the baby suffers from haemolytic anaemia, splenomegaly and has had jaundice throughout his life. His brother and father have similar conditions. We suspect that at least one of the gene variants identified in our exome sequencing may be responsible for the illness that runs in this family, including the fetus with isolated ascites.

  • genetic screening / counselling
  • pregnancy
  • neonatal health
  • materno-fetal medicine
  • ultrasonography

https://doi.org/10.1136/bcr-2020-240682

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    Footnotes

    • Contributors HS: chronicled the patient’s treatment course through EMR documentation, gathered supporting papers referenced throughout the paper, wrote the case report, recorded references in requested format. TB: literature review, writing, and proof reading the case report. APS: literature review, writing and proof reading the case report. IM: part of the care team of patient, inception of the idea, obtained consent from patient. Assisted author 1 in literature review and writing the case report. Proof reading the case report and submission.

    • 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.

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