{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,9]],"date-time":"2025-09-09T21:20:48Z","timestamp":1757452848376},"reference-count":16,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2018,4,19]],"date-time":"2018-04-19T00:00:00Z","timestamp":1524096000000},"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":["J of Obstet and Gynaecol"],"published-print":{"date-parts":[[2018,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Premature chromatid separation\/mosaic variegated aneuploidy (PCS\/MVA) syndrome is a rare genetic disorder. In this case report, we describe the prenatal diagnosis of PCS\/MVA syndrome in a 24\u2010year\u2010old, gravida 1, para 1, woman who was referred to us in her second trimester due to fetal growth restriction and extreme microcephaly (\u22125.0 standard deviations). Amniocentesis and chromosomal analysis confirmed PCS in 80% of cultured fetal cells. PCS findings were positive in 9% of paternal cells and 11% of maternal cells, indicative that both were PCS carriers. Genetic analysis confirmed that the fetus carried a combined heterozygote of maternal G &gt; A point mutation of the promoter area of the <jats:italic>BUB1B<\/jats:italic> gene and a paternal <jats:italic>Alu<\/jats:italic> sequence insertion between intron 8 and exon 9 of the <jats:italic>BUB1B<\/jats:italic> gene. As PCS\/MVA syndrome is associated with the development of various malignancies in early life, prenatal diagnosis is important for effective planning of post\u2010natal care.<\/jats:p>","DOI":"10.1111\/jog.13647","type":"journal-article","created":{"date-parts":[[2018,4,19]],"date-time":"2018-04-19T19:24:22Z","timestamp":1524165862000},"page":"1313-1317","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Prenatal diagnosis of premature chromatid separation\/mosaic variegated aneuploidy (PCS\/MVA) syndrome"],"prefix":"10.1111","volume":"44","author":[{"given":"Tomoko","family":"Yamaguchi","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology, Faculty of Medicine University of Miyazaki  Miyazaki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masatoshi","family":"Yamaguchi","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, 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