{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T13:19:35Z","timestamp":1780406375661,"version":"3.54.1"},"reference-count":20,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2019,7,15]],"date-time":"2019-07-15T00:00:00Z","timestamp":1563148800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Medicina"],"abstract":"<jats:p>The ductus venosus (DV) is a shunt that allows the direct flow of well-oxygenated blood from the umbilical vein (UV) to the coronary and cerebral circulation through the foramen ovale. Its agenesis has been associated with chromosomal abnormalities and rare genetic syndromes, structural defects, intrauterine growth restriction (IUGR) and even antepartum fetal demise. Pallister\u2013Killian Syndrome (PKS) is a rare sporadic disorder with specific tissue mosaic distribution of an extra 12p isochromosome (i(12p)). Its main clinical features are moderate to severe intellectual disability\/neuromotor delay, skin pigmentation abnormalities, typical facial appearance, variable association with multiple congenital malformations and epilepsy. Though prenatal findings (including congenital diaphragmatic hernia, ventriculomegaly, congenital heart disease, polyhydramnios, and rhizomelic shortening) have been described in literature, prenatal diagnosis is difficult as there are no associated identification signs no distinctive or pathognomonic signs, and some of these malformations are hard to identify prenatally. The tissue mosaicism linked to this syndrome and the decrease of the abnormal clone carrier of the i(p12) after successive trypsinizations of cultured cells makes the diagnosis even more challenging. We present the case of a 27.5 weeks pregnant woman with a fetal ductus venosus agenesis (DVA) as the main guide marker. To our knowledge this is the first case published in literature reporting a DVA as a guide sign to diagnose a complex condition as Pallister\u2013Killian syndrome. We also underscore the key role of new genetic techniques as microarrays to avoid misdiagnosis when only a subtle sonographic sign is present in complex conditions like this.<\/jats:p>","DOI":"10.3390\/medicina55070374","type":"journal-article","created":{"date-parts":[[2019,7,16]],"date-time":"2019-07-16T02:23:16Z","timestamp":1563243796000},"page":"374","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Ductus Venosus Agenesis as a Marker of Pallister\u2013Killian Syndrome"],"prefix":"10.3390","volume":"55","author":[{"given":"Mar\u00eda Victoria","family":"Lapresa Alcalde","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology, University Hospital of Salamanca and IBSAL, Paseo San Vicente 58-182, 37007 Salamanca, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4473-4914","authenticated-orcid":false,"given":"Ana Mar\u00eda","family":"Cubo","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, University Hospital of Salamanca and IBSAL, Paseo San Vicente 58-182, 37007 Salamanca, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Carmen","family":"Mart\u00edn Seisdedos","sequence":"additional","affiliation":[{"name":"Department of Genetics, University Hospital of Salamanca, Paseo San Vicente 58-182, 37007 Salamanca, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Javier","family":"Cortejoso Hern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, University Hospital of Valladolid, Calle Rondilla Sta. Teresa, s\/n, 47010 Valladolid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Jos\u00e9","family":"Doyague Sanchez","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, University Hospital of Salamanca and IBSAL, Paseo San Vicente 58-182, 37007 Salamanca, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 Mar\u00eda","family":"Sayagu\u00e9s","sequence":"additional","affiliation":[{"name":"Department of Hematology, University Hospital of Salamanca and IBSAL, Paseo San Vicente 58-182, 37007 Salamanca, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2019,7,15]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1515\/jpm-2018-0163","article-title":"Ductus venosus agenesis and fetal malformations: what can we expect? - A systematic review of the literature","volume":"47","author":"Pacheco","year":"2018","journal-title":"J. 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