Prenatal diagnosis of premature chromatid separation/mosaic variegated aneuploidy (PCS/MVA) syndrome

Tomoko Yamaguchi, Masatoshi Yamaguchi, Keiko Akeno, Midori Fujisaki, Kaeko Sumiyoshi, Masanao Ohashi, Hiroshi Sameshima, Mamoru Ozaki, Maki Kato, Takema Kato, Eriko Hosoba, Hiroki Kurahashi

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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-year-old, gravida 1, para 1, woman who was referred to us in her second trimester due to fetal growth restriction and extreme microcephaly (−5.0 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 > A point mutation of the promoter area of the BUB1B gene and a paternal Alu sequence insertion between intron 8 and exon 9 of the BUB1B 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-natal care.

Original languageEnglish
Pages (from-to)1313-1317
Number of pages5
JournalJournal of Obstetrics and Gynaecology Research
Issue number7
Publication statusPublished - 01-07-2018


All Science Journal Classification (ASJC) codes

  • Obstetrics and Gynaecology

Cite this

Yamaguchi, T., Yamaguchi, M., Akeno, K., Fujisaki, M., Sumiyoshi, K., Ohashi, M., Sameshima, H., Ozaki, M., Kato, M., Kato, T., Hosoba, E., & Kurahashi, H. (2018). Prenatal diagnosis of premature chromatid separation/mosaic variegated aneuploidy (PCS/MVA) syndrome. Journal of Obstetrics and Gynaecology Research, 44(7), 1313-1317.