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Karyotype evaluation of repeated abortions in primary and secondary recurrent pregnancy loss

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Abstract

Purpose

To study the contribution of embryo chromosomal abnormalities in primary and secondary recurrent pregnancy loss (RPL) and to analyze the recurrence of chromosomal constitution in miscarriages from the same couple.

Methods

Retrospective study of abortion karyotypes in RPL families based on the mother’s primary or secondary RPL status (563 embryo specimens, 335 samples from primary, and 228 samples from secondary RPL). RPL was defined as two or more consecutive miscarriages. One hundred eight cases of recurrent embryo/fetal loss in 51 families were analyzed to assess the probability of having the same karyotype pattern (recurrent normal or recurrent abnormal) in both previous and subsequent pregnancy loss. The karyotypes of abortions were established using standard cytogenetic analysis, as well as interphase fluorescence in situ hybridization (FISH) and comparative genomic hybridization (CGH).

Results

The frequency of aberrations was 43.9% in abortions from primary RPL versus 52.6% in secondary RPL (p = 0.041). Women 35 years of age or older were the main contributors to this difference. The odds ratio of a subsequent abortion having the same karyotype pattern (normal or abnormal) as the previous one was 6.98 (p = 0.0013).

Conclusion

The frequency of abnormalities is higher in abortions from the secondary RPL versus primary RPL group, and this difference is due to the relative deficiency of miscarriages with abnormal karyotypes in older women with primary RPL. The probability of having the same karyotype pattern (recurrent normal or recurrent abnormal) in the previous and subsequent abortion is increased significantly compared with chance.

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Funding

The study was supported by the Ministry of Science and Education of the Russian Federation (budgetary project of the Research Institute of Medical Genetics, TNRMC, # AAAA-A19–11902089005-5).

Author information

NTV designed the study, performed sample collection and cell culture, conducted data analysis and interpretation, and drafted the manuscript. SEA and SNN performed cytogenetic analysis of G-banded metaphase chromosomes. ZDI contributed to CGH analysis, and TEN performed cell culture. LIN contributed to sample collection and analysis and revised the article for important intellectual content.

Correspondence to T. V. Nikitina.

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The authors declare that they have no conflicts of interest.

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All procedures performed in studies involving human participants were in accordance with the ethical standards of the Scientific Ethics Committee of the Research Institute of Medical Genetics of the Tomsk NRMC and with the 1964 Declaration of Helsinki and its later amendments or comparable ethical standards.

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Informed consent was obtained from all individual participants included in the study.

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Nikitina, T.V., Sazhenova, E.A., Zhigalina, D.I. et al. Karyotype evaluation of repeated abortions in primary and secondary recurrent pregnancy loss. J Assist Reprod Genet (2020). https://doi.org/10.1007/s10815-020-01703-y

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Keywords

  • Primary and secondary recurrent pregnancy loss
  • Chromosomal abnormalities
  • Miscarriage
  • Cytogenetics