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Human Genetics

, Volume 77, Issue 2, pp 137–141 | Cite as

A cytogenetic study directly from chorionic villi of 140 spontaneous abortions

  • Bernd Eiben
  • Sabine Borgmann
  • Ingrid Schübbe
  • Ingo Hansmann
Original Investigations

Summary

Spontaneous abortions were studied by analyzing chromosomes directly from chorionic villi. The frequency and the type of anomalies detected among 140 abortuses are in good agreement with those observed by others using conventional tissue cultures. Abnormal karyotypes were found in 48.6% of the cases. Trisomy predominated (66.2%), followed by polyploidy (22.1%), monosomy X (7.4%), and structural anomalies (4.4%). Among the trisomies, the most prevalent were of chromosome 22 (22.2%), 16(22.2%), and 13 (9.5%). The relative frequencies of trisomies, monosomy X, and the different chromosomes involved in trisomies seem to differ between our study and those in which tissue cultures were analyzed. Our low frequency of 45,XO karyotypes and the shift to trisomies of chromosomes whose involvement increases steeply with maternal age are considered due to the approximately 3 year higher mean maternal age in our sample. The sex ratio (male to female) in chromosomally abnormal abortuses was 1.28, which is nearly identical to the 1.2 found in earlier studies. Surprisingly, in chromosomally normal abortions males were significantly outnumbered by females (sex ratio 0.76). Since maternal cell contamination cannot have influenced the sex ratio in our study, we consider it worthwhile to investigate whether failures associated with X inactivation are responsible for pregnancy wastage of some euploid female conceptuses. Knowledge of the karyotypes may serve as a prerequisite for the investigation of non-chromosomal genetic causes of pregnancy wastage.

Keywords

Tissue Culture Metabolic Disease Relative Frequency Spontaneous Abortion Cytogenetic Study 
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-Verlag 1987

Authors and Affiliations

  • Bernd Eiben
    • 1
  • Sabine Borgmann
    • 1
  • Ingrid Schübbe
    • 1
  • Ingo Hansmann
    • 1
  1. 1.Institut für Humangenetik der UniversitätGöttingenFederal Republic of Germany

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