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Preimplantation genetic testing for aneuploidy (PGT-A)—a single-center experience

  • Genetics
  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Purpose

The aim of this study was to determine the prevalence and nature of human embryonic aneuploidy based on the preimplantation genetic testing for aneuploidy (PGT-A), the distribution of aneuploidy across the individual chromosomes, and their relationship to maternal age.

Methods

This is a retrospective cohort study conducted at a single center. The study includes subjects who opted for PGT-A in their in vitro fertilization (IVF) cycle from 2016 to 2020. PGT-A was performed on 1501 embryos from 488 patients in 535 cycles. PGT-A was performed using NGS-based technique on Ion Torrent PGM (Life Technologies). Analysis was performed to determine the (i) frequency of the aneuploidy, (ii) the chromosome most commonly affected, (iii) relationship between maternal age and the rate of aneuploidy, and (iv) incidence of segmental aneuploidy.

Results

The overall frequency of aneuploidy was observed to be 46.8%. The incidence of aneuploidy rate was ~ 28% at maternal age < 30 years which steadily increased to ~ 67% in women above 40 years. High frequency of aneuploidy was observed in chromosomes 16, 22, 21, and 15. Segmental abnormalities, involving loss or gain of chromosomal fragments, were observed at a frequency of 5.3%, and highest incidence of segmental gain was observed on the q-arm of chromosome 9.

Conclusion

The study provides important information regarding the frequency of the aneuploidy in IVF cohort and the most frequent chromosomal abnormality. The study further emphasizes the relationship between maternal age and aneuploidy. This study has important implications which help clinicians and genetic counselors in providing information in patient counseling.

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Acknowledgements

We are very thankful to Richard Kirubakaran, who works in Christian Medical College, Vellore, for his support on statistical analysis. We also like to extend our thanks to Thermo Fisher Scientific-Life Science & Lab Products Company for their support with experimentation and analysis on PGT-A.

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Authors and Affiliations

  1. Tattvagene Pvt. Ltd., #365, Sulochana Building, 1st Cross, 3rd Block Koramangala, Sarjapura Main Road, Bangalore, 560034, India

    Jiny Nair, Sachin Shetty, Cynthia Irene Kasi, Rajsekhar Nayak, Devika Gunasheela & Swathi Shetty

  2. Gunasheela Surgical and Maternity Hospital, #1, Dewan N. Madhava Rao Road, Basavanagudi, Bangalore, 560004, India

    Nirmala Thondehalmath, Deepanjali Ganesh, Vidyalakshmi R. Bhat, Sajana Mannadia, Anjana Ranganath, Rajsekhar Nayak & Devika Gunasheela

  3. Centre for Human Genetics Biotech Park, Electronic City Phase 1, Bengaluru, 560100, India

    Swathi Shetty

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Contributions

Dr. Swathi Shetty, Dr. Devika Gunasheela, Dr. Rajsekhar Nayak, and Dr. Jiny Nair contributed to the study conception and design. Material preparation, data collection, and analysis were performed by Dr. Jiny Nair, Sachin Shetty, Cynthia Irene Kasi, Nirmala Thondehalmath, Deepanjali Ganesh, Anjana R, Vidyalakshmi R Bhat, and Sajana M. The first draft of the manuscript was written by Dr. Jiny Nair, and review and editing of the manuscript was done by Dr. Swathi Shetty, Sachin Shetty and Dr. Devika Gunasheela. All authors read and approved the final manuscript.

Corresponding author

Correspondence to Swathi Shetty.

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Ethics approval and consent to participate

Ethical approval was waived by the Ethics Committee of Gunasheela Surgical and Maternity Hospital in view of the retrospective nature of the study and as all the procedures being performed were part of the routine care. Written informed consent was obtained from all the study subjects undergoing PGT-A and IVF procedure.

Competing interests

The authors declare no competing interests.

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Nair, J., Shetty, S., Kasi, C.I. et al. Preimplantation genetic testing for aneuploidy (PGT-A)—a single-center experience. J Assist Reprod Genet 39, 729–738 (2022). https://doi.org/10.1007/s10815-022-02413-3

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  • DOI: https://doi.org/10.1007/s10815-022-02413-3

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