{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T10:29:41Z","timestamp":1789122581982,"version":"build-2803163510"},"reference-count":35,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2023,10,30]],"date-time":"2023-10-30T00:00:00Z","timestamp":1698624000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2023,11]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      To clarify the relevance of\n                      <jats:italic>PIEZO1<\/jats:italic>\n                      variants detected by prenatal exome in the context of non\u2010immune hydrops fetalis (NIHF).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      A systematic review of prenatal exome studies from 1\/1\/2000\u20108\/1\/2022 was performed. Thirty\u2010six studies met the inclusion criteria.\n                      <jats:italic>PIEZO1<\/jats:italic>\n                      variants were categorized by disease mode (dominant (AD) versus recessive (AR)) and classified by the American College of Medical Genetics and Genomics (ACMG) guidelines.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Twenty\u2010two pregnancies with 35 distinct\n                      <jats:italic>PIEZO1<\/jats:italic>\n                      variants were included. We deemed\n                      <jats:italic>PIEZO1<\/jats:italic>\n                      variants to be \u201clikely diagnostic\u201d in 12\/22 pregnancies, \u201cpossibly diagnostic\u201d in 7\/22, and \u201cunlikely diagnostic\u201d in 3\/22. In total, 19 of 191 NIHF cases diagnosed by prenatal exome were attributed to\n                      <jats:italic>PIEZO1<\/jats:italic>\n                      . Among likely diagnosed cases, the disease mode was AR in eight and AD in four.\n                      <jats:italic>PIEZO1<\/jats:italic>\n                      variants causing AR NIHF were characterized by loss of function and isolated NIHF phenotype.\n                      <jats:italic>PIEZO1<\/jats:italic>\n                      variants causing AD NIHF were characterized by gain of function in red blood cells, scarcity in databases, and sporadic inheritance. Missense variants associated with NIHF were clustered in three domains: transmembrane helical unit 4 (THU4), THU5, and the Cap.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      <jats:italic>PIEZO1<\/jats:italic>\n                      variants were reported in 10% of NIHF cases diagnosed by prenatal exome, making\n                      <jats:italic>PIEZO1<\/jats:italic>\n                      the most common single gene reported in NIHF.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pd.6451","type":"journal-article","created":{"date-parts":[[2023,10,30]],"date-time":"2023-10-30T07:50:16Z","timestamp":1698652216000},"page":"1556-1566","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["<i>PIEZO1<\/i>\n                    is the most common monogenic etiology of non\u2010immune hydrops fetalis detected by prenatal exome sequencing"],"prefix":"10.1002","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1717-7967","authenticated-orcid":false,"given":"Casey J.","family":"Brewer","sequence":"first","affiliation":[{"name":"Division of Human Genetics Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mona M.","family":"Makhamreh","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Maimonides Medical Center  Brooklyn New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kavya","family":"Shivashankar","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology University of Illinois at Chicago  Chicago Illinois USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rodney","family":"McLaren","sequence":"additional","affiliation":[{"name":"Division of Maternal\u2010Fetal Medicine Sidney Kimmel Medical College at Thomas Jefferson University  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariella","family":"Toro","sequence":"additional","affiliation":[{"name":"Sidney Kimmel Medical College at Thomas Jefferson University  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seth I.","family":"Berger","sequence":"additional","affiliation":[{"name":"Center for Genetic Medicine Research\/Rare Disease Institute Children's National Medical Center  Washington District of Columbia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2922-0333","authenticated-orcid":false,"given":"Huda B.","family":"Al\u2010Kouatly","sequence":"additional","affiliation":[{"name":"Division of Maternal\u2010Fetal Medicine Sidney Kimmel Medical College at Thomas Jefferson University  Philadelphia Pennsylvania 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