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High incidences of chromosomal aberrations and Y chromosome micro-deletions as prominent causes for recurrent pregnancy losses in highly ethnic and consanguineous population

Abstract

Purpose

Recurrent Miscarriages (RM) commonly complicates the reproductive outcome where prominently chromosomal aberrations and molecular factors lead to recurrent miscarriages. We investigated couples with RM for cytogenetic abnormalities and Y chromosome microdeletions in males along with detection of aneuploidies de novo in the product of conception from a highly ethnic consanguineous population (Kashmir, North India) .

Study design

Chromosomal analysis was done by Karyotyping on peripheral blood lymphocyte cultures and analyzed by Cytovision software Version 3.9. Microdeletion in Y chromosome was performed by STS-PCR and QF-PCR was used to detect aneuploidy in the product of conception.

Results

Of the 380 samples (190 couples) screened for cytogenetic analysis, 50 (13.1%) chromosomal aberrations were detected in both couples. Numerical aberrations were detected in 16.0%, inversions 22%, duplications 16.0% and translocations were found in 26.0% with three unique reciprocal translocations in males. The couples bonded consanguineously had 32% chromosomal changes with a significant difference in chromosomal inversions (37.5% vs. 14.7%) and translocations (37.5% vs. 20.6%) for consanguineous and non-consanguineous group, respectively (p < 0.05). Further, translocations and inversions (44.5% and 33.3%) were significantly implicated in couples with a positive family history of RM (p < 0.05). Y chromosome deletions were found in 2.1% cases of males.

Conclusion

We conclude 15.2% couples affected either by chromosomal or Y chromosome deletions contribute hugely in the diagnosis and management of repeated pregnancy losses. It is recommended that couples that belong to consanguineous and multigenerational group of RM should be considered for cytogenetic and molecular testing after two abortions for successful pregnancy outcomes and management of RM.

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Funding

This study was funded by DBT, Ministry of Science and Technology, New Delhi, (GOI) No. BT/PR11769/MED /97/229/2014-reg. All the authors declare no competing financial interests.

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Contributions

AAP: conceived and designed the work, performed the experiments, manuscript drafting and evaluation of results; UMK, IA, IQ, WZ, and DS: analyzed the data and experimentation; AA and MR: helped to provide samples; DA: manuscript draft editing and logistic support; MHZ and FAD: helped in lab support.

Corresponding author

Correspondence to Arshad A. Pandith.

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All the authors declare no conflict of interest.

Ethical approval

Human participants involved for performing various procedures were strictly followed in accordance with the ethical standards of the institutional research approval committee in compliance with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. Ethical approval for this study was duly obtained from the Institutional Ethical Committee of SK Institute of Medical Sciences, J&K, North India (SKIMS Study ref: Protocol IEC-SKIMS Protocol RP 244/2014).

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All the patients and control group were voluntary in participation to this study and a written informed consent was obtained from each recruited subject.

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Pandith, A.A., Manzoor, U., Amin, I. et al. High incidences of chromosomal aberrations and Y chromosome micro-deletions as prominent causes for recurrent pregnancy losses in highly ethnic and consanguineous population. Arch Gynecol Obstet (2021). https://doi.org/10.1007/s00404-021-06235-z

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Keywords

  • Recurrent miscarriages
  • Reproductive outcome
  • Aneuploidies
  • Consanguinity
  • Cytogenetic analysis
  • Kashmir (India)