{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T01:23:23Z","timestamp":1771464203420,"version":"3.50.1"},"reference-count":16,"publisher":"BMJ","issue":"4","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2021,3,19]]},"published-print":{"date-parts":[[2021,4]]},"abstract":"<jats:p>We present a case of isolated fetal ascites diagnosed at 20 weeks\u2019 gestation. No aetiology was identified on extensive prenatal workup, including prenatal microarray. The patient terminated the pregnancy at 23 weeks\u2019 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.<\/jats:p>","DOI":"10.1136\/bcr-2020-240682","type":"journal-article","created":{"date-parts":[[2021,4,9]],"date-time":"2021-04-09T12:41:49Z","timestamp":1617972109000},"page":"e240682","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["PIEZO1 mutation: a rare aetiology for fetal ascites"],"prefix":"10.1136","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4364-1428","authenticated-orcid":false,"given":"Helen","family":"Stolyar","sequence":"first","affiliation":[{"name":"Obstetrics and Gynecology, Saint Francis Hospital and Medical Center, Hartford, Connecticut, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Teresa","family":"Berry","sequence":"additional","affiliation":[{"name":"Maternal Fetal Medicine, Saint Francis Hospital and Medical Center, Hartford, Connecticut, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amit Pal","family":"Singh","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Mercy Medical Center, Springfield, Massachusetts, USA"},{"name":"Department of Nephrology, Baystate Medical Center, Springfield, Massachusetts, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7702-9245","authenticated-orcid":false,"given":"Ichhcha","family":"Madan","sequence":"additional","affiliation":[{"name":"Maternal fetal Medicine, Trinity Health of New England, Hartford, Connecticut, USA"},{"name":"Trinity Health of New England, Hartford, Connecticut, 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A systematic review of monogenic etiologies of nonimmune hydrops fetalis [Internet]. Genetics in Medicine: official journal of the American College of Medical Genetics. 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