{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T09:48:40Z","timestamp":1767260920979,"version":"3.40.5"},"reference-count":62,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2022,7,19]],"date-time":"2022-07-19T00:00:00Z","timestamp":1658188800000},"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":[[2022,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>We describe the prenatal ultrasound findings and autopsy of three fetuses with multiple congenital anomalies (MCA) whose diagnostic workup suggested the same genetic etiology. We conducted a literature review to corroborate the molecular results and find evidence that the identified variants are responsible for the phenotype seen.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Trio\u2010based Exome Sequencing (ES) analysis was performed on chorionic villus samples. We reviewed available reports dealing with prenatal manifestations of genes involved in the Glycosylphosphatidylinositols (GPI) biosynthesis defects (GPIBDs).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Prenatal findings shared by all the three pregnancies included facial dysmorphisms, brain malformations of the posterior fossa, skeletal and genitourinary anomalies. ES analysis identified homozygous variants of uncertain significance in <jats:italic>PIGW<\/jats:italic> in the three fetuses. Prenatal findings of the three pregnancies overlapped with those previously described for <jats:italic>PIGW<\/jats:italic> variants and with those associated with <jats:italic>PIGN<\/jats:italic>, <jats:italic>PIGV<\/jats:italic> and <jats:italic>PIGA<\/jats:italic> variants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Based on the phenotypic overlap between the prenatal findings in our three cases and other cases with pathogenic variants in other genes involved in GPIBDs, we speculate that the variants identified in the three fetuses are likely causal of their phenotype and that the <jats:italic>PIGW<\/jats:italic>clinical spectrum might extend to MCA, mainly involving brain, skeletal and genitourinary systems. Moreover, we suggest that also <jats:italic>PIGW<\/jats:italic> could be involved in Fryns\/Fryns\u2010like phenotypes.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6204","type":"journal-article","created":{"date-parts":[[2022,7,5]],"date-time":"2022-07-05T10:05:57Z","timestamp":1657015557000},"page":"1493-1502","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Prenatal ultrasound findings associated with <i>PIGW<\/i> variants: One more piece in the FRYNS syndrome puzzle? <i>PIGW<\/i>\u2010related prenatal findings"],"prefix":"10.1002","volume":"42","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7820-6533","authenticated-orcid":false,"given":"Luisa","family":"Ronzoni","sequence":"first","affiliation":[{"name":"Clinical Genetics Unit Fondazione IRCCS Ca\u2019 Granda Ospedale Policlinico di Milano  Milan 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