{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:01:42Z","timestamp":1753869702251,"version":"3.41.2"},"reference-count":25,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2021,3,18]],"date-time":"2021-03-18T00:00:00Z","timestamp":1616025600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2021,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Prenatal diagnoses of microdeletion syndromes without ultrasound findings in the first and second trimester are always difficult. The objective of this study is to report the prenatal ultrasound findings in four foetuses diagnosed with 17q21.31 microdeletions (Koolen\u2010de Vries syndrome) using chromosomal microarrays (CMA).<\/jats:p><\/jats:sec><jats:sec><jats:title>Patients and Methods<\/jats:title><jats:p>We present four foetuses with 17q21.31 microdeletion. All showed CNS anomalies in the third trimester, three had ventriculomegaly, and one hypogenesis of corpus callosum at 31\u00a0weeks of pregnancy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Array\u2010SNPs and CGH\u2010array were performed on uncultured amniocytes and peripheral blood revealing a 17q21.31 microdeletion.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Prenatal CNS anomalies (mainly ventriculomegaly) at third trimester, in spite of isolate, should be considered a prenatal ultrasound marker of this syndrome. This kind of malformations raise the possibility of an underlying genetic conditions including 17q21.31 microdeletion; thus, CMA should be taken into consideration when offering prenatal genetic counselling.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1649","type":"journal-article","created":{"date-parts":[[2021,3,18]],"date-time":"2021-03-18T08:45:52Z","timestamp":1616057152000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Prenatal ultrasound findings in Koolen\u2010de Vries foetuses: Central nervous system anomalies are frequent markers of this syndrome"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2393-7800","authenticated-orcid":false,"given":"Fe Amalia","family":"Garc\u00eda\u2010Santiago","sequence":"first","affiliation":[{"name":"INGEMM Institute of Medical and Molecular Genetics\u2010IdiPAZ Hospital Universitario La Paz Madrid Spain"},{"name":"Universidad 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