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Chromosomal Abnormalities and Embryonic Phenotype

  • Dagmar K. Kalousek
  • Naomi Fitch
  • Barbara A. Paradice

Abstract

Pregnancy loss during the embryonic period of development is a common event. Among the estimated 15 to 20% of clinically recognized pregnancies that are lost, the majority take place when the conceptus is undergoing embryonic development. The abnormal morphology of aborted embryos has been noted by earlier authors (Mall, 1908; Hertig et al., 1936). It has since been recognized that the incidence of cytogenetic abnormalities among such embryonic spontaneous abortions is over 50% (Boué et al., 1975; Jacobs and Hassold, 1987), with chromosomal trisomy, monosomy, and polyploidy being the most common. Nearly all these chromosomal defects are “de novo,” arising either during parental gametogenesis or fertilization/ cleavage. Trisomies and monosomies are caused by meiotic chromosomal nondisjunction; triploidy usually results from double fertilization of an ova by two sperms and tetraploidy from abnormal cleavage. Many studies have been dedicated to answering the question whether an abortion with an identified chromosomal defect—specifically, chromosomal trisomy—predisposes the parents to the higher risk of having a liveborn infant with chromosomal trisomy. When allowance was made for maternal age, no association between spontaneous abortion with aneuploidy and an increased risk of a future liveborn infant with a chromosomal defect could be demonstrated (Warburton et al., 1987).

Keywords

Spontaneous Abortion Neural Tube Defect Recurrent Spontaneous Abortion Abnormal Embryo Chromosomal Defect 
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

© Springer Science+Business Media New York 1990

Authors and Affiliations

  • Dagmar K. Kalousek
    • 1
  • Naomi Fitch
    • 2
  • Barbara A. Paradice
    • 3
  1. 1.Department of PathologyThe University of British Columbia and BC Children’s HospitalVancouverCanada
  2. 2.Department of Pathology, Lady Davis Institute, Sir Mortimer B. Davis Jewish General HospitalThe University of British ColumbiaMontrealCanada
  3. 3.Embryopathology UnitBC Children’s HospitalVancouverCanada

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