{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T20:50:00Z","timestamp":1760907000228},"reference-count":19,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2009,8,1]],"date-time":"2009-08-01T00:00:00Z","timestamp":1249084800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Ultrasound Medicine"],"published-print":{"date-parts":[[2009,8]]},"abstract":"<jats:p><jats:bold><jats:italic>Objective.<\/jats:italic><\/jats:bold> The purpose of this series is to describe the first\u2010trimester sonographic findings leading to the diagnosis of monosomy 18p. <jats:bold><jats:italic>Methods.<\/jats:italic><\/jats:bold> The sonographic appearance of 2 cases of monosomy 18p, detected as part of first\u2010trimester sonographic screening for aneuploidy at this institution, was reviewed. <jats:bold><jats:italic>Results.<\/jats:italic><\/jats:bold> Increased nuchal translucency thickness, alobar holoprosencephaly, and facial defects were detected in both cases. Chromosomal analysis by chorionic villus sampling revealed de novo del(18p) in 1 case and monosomy 18p as the result of an 18q isochromosome in the other. <jats:bold><jats:italic>Conclusions.<\/jats:italic><\/jats:bold> Increased nuchal translucency thickness in association with brain and face anomalies on a first\u2010trimester scan allowed the early diagnosis of monosomy 18p. Fetuses with holoprosencephaly can be readily identified in the first trimester by examining a cross section of the fetal head looking for the \u201cbutterfly\u201d sign. Prenatal karyotyping provides important information regarding the etiology and risk of recurrence in these cases.<\/jats:p>","DOI":"10.7863\/jum.2009.28.8.1077","type":"journal-article","created":{"date-parts":[[2017,1,10]],"date-time":"2017-01-10T18:35:54Z","timestamp":1484073354000},"page":"1077-1080","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Monosomy 18p Presenting With Holoprosencephaly and Increased Nuchal Translucency in the First Trimester"],"prefix":"10.7863","volume":"28","author":[{"given":"Waldo","family":"Sepulveda","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,8]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-3-4"},{"key":"e_1_2_6_3_1","unstructured":"Jones KL. Deletion 18p syndrome. In: Smith's Recognizable Patterns of Human Malformations. 6th ed. 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