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Related Experiment Videos

Cytogenetic abnormalities among spontaneously aborted previable fetuses.

R D Craver1, D K Kalousek

  • 1Department of Pathology, Louisiana State University Medical School, New Orleans 70112.

American Journal of Medical Genetics. Supplement
|January 1, 1987
PubMed
Summary

Chromosomal abnormalities in fetuses aged 9-20 weeks occurred in 5.8% of cases. This prevalence and type of abnormalities, including Monosomy X and triploidy, differed from embryonic losses.

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Area of Science:

  • Cytogenetics
  • Reproductive Medicine
  • Fetal Development

Background:

  • Spontaneous abortions are a significant concern in pregnancy.
  • Understanding chromosomal abnormalities is crucial for identifying causes of fetal loss.
  • Previous studies have focused on embryonic losses, with less data on early fetal losses.

Purpose of the Study:

  • To determine the prevalence and spectrum of chromosomal abnormalities in early fetal losses (9-20 weeks).
  • To compare these findings with chromosomal abnormalities in embryonic losses and perinatal deaths.
  • To identify common chromosomal abnormalities in previable fetuses.

Main Methods:

  • Cytogenetic analysis of 723 spontaneously aborted fetuses (9-20 weeks gestation).
  • Inclusion of fetuses with developmental defects and those from mothers with recurrent spontaneous abortions.

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  • Morphological assessment to identify suspected chromosome abnormalities.

    • Main Results:

    • Cytogenetically confirmed chromosome abnormalities in 5.8% of fetuses.
    • Overall prevalence, including suspected cases, was 7.1%.
    • Common abnormalities included Monosomy X, triploidy, gonosomal aneuploidy, and trisomies 13, 18, and 21.
    • Monosomy X was the most frequent abnormality in previable fetuses.
    • Monosomy X and triploidy were more common in early fetal losses than in perinatal deaths.
    • Autosomal trisomies prevalence matched that of perinatal deaths.
    • No chromosomal structural abnormalities were detected.

    Conclusions:

    • The prevalence and spectrum of chromosomal abnormalities in early fetal losses differ from embryonic losses.
    • Monosomy X and triploidy are significant findings in the early fetal period.
    • Findings provide insights into the genetic causes of miscarriage during the early fetal stage.