Russian Journal of Genetics

, Volume 46, Issue 10, pp 1197–1200 | Cite as

Chromosomal mosaicism in spontaneous abortions: Analysis of 650 cases

  • S. G. Vorsanova
  • I. Yu. Iourov
  • A. D. Kolotii
  • A. K. Beresheva
  • I. A. Demidova
  • O. S. Kurinnaya
  • V. S. Kravets
  • V. V. Monakhov
  • I. V. Soloviev
  • Yu. B. Yurov
Article

Abstract

It is known that up to 50% spontaneous abortions (SA) in the first trimester of pregnancy are associated with chromosomal abnormalities. We studied mosaic forms of chromosomal abnormalities in 650 SA specimens using interphase MFISH and DNA probes for chromosomes 1, 9, 13/21, 14/22, 15, 16, 18, X, and Y. Numerical chromosomal abnormalities were discovered in 58.2% (378 cases). They contained combined chromosomal abnormalities (aneuploidy of several chromosomes or aneuploidy in combination with polyploidy in the same specimen) in 7.7% (29 cases) or 4.5% of the entire SA sample; autosomal trisomy, in 45% (18.2% in chromosome 16, 8.9% in chromosomes 14/22, 7.9% in chromosomes 13/21, 3.1% in chromosome 18, and 1.4% in chromosome 9). Chromosome X aneuploidy was found in 27% cases, among which 9.6% represented chromosome X monosomy. Polyploidy was observed in 22.9% cases. In 5.1% cases, we observed mosaic form of autosomal monosomy. Among the SA cases with chromosomal abnormalities mosaicism was observed in 50.3% (∼ 25% of the entire SA sample). The results of the present study indicate that significant amount of chromosomal abnormalities in SA cells are associated with disturbances in mitotic chromosome separation, which represents the most common cause of intrauterine fetal death. It was also shown that original collection of DNA probes and the technique of interphase MFISH could be useful for detection of chromosomal mosaicism in prenatal cell specimens.

Keywords

Chromosomal Abnormality Spontaneous Abortion Intrauterine Fetal Death Chromosomal Mosaicism Mosaic Form 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Pleiades Publishing, Ltd. 2010

Authors and Affiliations

  • S. G. Vorsanova
    • 1
    • 2
  • I. Yu. Iourov
    • 1
    • 2
  • A. D. Kolotii
    • 1
  • A. K. Beresheva
    • 1
    • 2
  • I. A. Demidova
    • 1
    • 2
  • O. S. Kurinnaya
    • 1
    • 2
  • V. S. Kravets
    • 1
  • V. V. Monakhov
    • 2
  • I. V. Soloviev
    • 2
  • Yu. B. Yurov
    • 1
    • 2
  1. 1.Institute of Pediatrics and Children SurgeryRosmedtechnologii, MoscowRussia
  2. 2.Mental Health Research CenterRussian Academy of Medical SciencesMoscowRussia

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