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Case Report

Online Publishing Date:
30 / 08 / 2024

 


Mosaic embryo transfer after pre-implantation genetic testing for structural rearrangement: a case study

Shweta Mahalingam, Rashmi Rasalkar, Meenakshi Lallar, Avinash Pradhan, Sneha Khairnar, Angela Devanboo, Eswarachari Venkataswamy, Satish Kariyaiah, Vedam L Ramprasad, Priya Kadam.


Abstract
Background: Identifying the cause of recurrent pregnancy loss (RPL) helps in the direct management of future pregnancies. In 3-4% of cases, a chromosomal structural rearrangement is identified in the couple. Pre-implantation genetic testing - structural rearrangements (PGT-SR) is an accepted practice for such couples opting for pregnancy through in-vitro fertilization. However, the result interpretation and clinical outcome for mosaic embryo transfer have limited predictions.
Case Presentation: In this case study, we describe the genetic tests involved in establishing the cause of RPL followed by management through PGT and prenatal diagnosis. The couple was identified with a structural rearrangement and opted for PGT-SR (Structural Rearrangement) which revealed a mosaic embryo involving multiple chromosomes. The case study describes the implication of transfer of mosaic embryo, followed up with prenatal tests with complex results, its interpretation, and genetic counselling.
Conclusion: The case reiterates the benefit of thorough genetic evaluation for pregnancy management by using of multiple genetic tests for couples with recurrent pregnancy loss. It aids in decision-making for complex genetic results in prenatal scenario.

Key words: Recurrent pregnancy loss, PGT-SR, mosaic embryo, genetic counselling


 
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How to Cite this Article
Pubmed Style

Mahalingam S, Rasalkar R, Lallar M, Pradhan A, Khairnar S, Devanboo A, Venkataswamy E, Kariyaiah S, Ramprasad VL, Kadam P. Mosaic embryo transfer after pre-implantation genetic testing for structural rearrangement: a case study. JBCGenetics. Online First: 30 Aug, 2024. doi:10.24911/JBCGenetics.183-1708424799

Web Style

Mahalingam S, Rasalkar R, Lallar M, Pradhan A, Khairnar S, Devanboo A, Venkataswamy E, Kariyaiah S, Ramprasad VL, Kadam P. Mosaic embryo transfer after pre-implantation genetic testing for structural rearrangement: a case study. https://www.jbcgenetics.com/?mno=191617 [Access: August 30, 2024]. doi:10.24911/JBCGenetics.183-1708424799

AMA (American Medical Association) Style

Mahalingam S, Rasalkar R, Lallar M, Pradhan A, Khairnar S, Devanboo A, Venkataswamy E, Kariyaiah S, Ramprasad VL, Kadam P. Mosaic embryo transfer after pre-implantation genetic testing for structural rearrangement: a case study. JBCGenetics. Online First: 30 Aug, 2024. doi:10.24911/JBCGenetics.183-1708424799


Vancouver/ICMJE Style

Mahalingam S, Rasalkar R, Lallar M, Pradhan A, Khairnar S, Devanboo A, Venkataswamy E, Kariyaiah S, Ramprasad VL, Kadam P. Mosaic embryo transfer after pre-implantation genetic testing for structural rearrangement: a case study. JBCGenetics, [cited August 30, 2024]; Online First: 30 Aug, 2024. doi:10.24911/JBCGenetics.183-1708424799


Harvard Style

Mahalingam, S., Rasalkar, . R., Lallar, . M., Pradhan, . A., Khairnar, . S., Devanboo, . A., Venkataswamy, . E., Kariyaiah, . S., Ramprasad, . V. L. & Kadam, . P. (2024) Mosaic embryo transfer after pre-implantation genetic testing for structural rearrangement: a case study. JBCGenetics, Online First: 30 Aug, 2024. doi:10.24911/JBCGenetics.183-1708424799


Turabian Style

Mahalingam, Shweta, Rashmi Rasalkar, Meenakshi Lallar, Avinash Pradhan, Sneha Khairnar, Angela Devanboo, Eswarachari Venkataswamy, Satish Kariyaiah, Vedam L Ramprasad, and Priya Kadam. 2024. Mosaic embryo transfer after pre-implantation genetic testing for structural rearrangement: a case study. Journal of Biochemical and Clinical Genetics, Online First: 30 Aug, 2024. doi:10.24911/JBCGenetics.183-1708424799


Chicago Style

Mahalingam, Shweta, Rashmi Rasalkar, Meenakshi Lallar, Avinash Pradhan, Sneha Khairnar, Angela Devanboo, Eswarachari Venkataswamy, Satish Kariyaiah, Vedam L Ramprasad, and Priya Kadam. "Mosaic embryo transfer after pre-implantation genetic testing for structural rearrangement: a case study." Journal of Biochemical and Clinical Genetics Online First: 30 Aug, 2024. doi:10.24911/JBCGenetics.183-1708424799


MLA (The Modern Language Association) Style

Mahalingam, Shweta, Rashmi Rasalkar, Meenakshi Lallar, Avinash Pradhan, Sneha Khairnar, Angela Devanboo, Eswarachari Venkataswamy, Satish Kariyaiah, Vedam L Ramprasad, and Priya Kadam. "Mosaic embryo transfer after pre-implantation genetic testing for structural rearrangement: a case study." Journal of Biochemical and Clinical Genetics Online First: 30 Aug, 2024. Web. 30 Aug 2024 doi:10.24911/JBCGenetics.183-1708424799


APA (American Psychological Association) Style

Mahalingam, S., Rasalkar, . R., Lallar, . M., Pradhan, . A., Khairnar, . S., Devanboo, . A., Venkataswamy, . E., Kariyaiah, . S., Ramprasad, . V. L. & Kadam, . P. (2024) Mosaic embryo transfer after pre-implantation genetic testing for structural rearrangement: a case study. Journal of Biochemical and Clinical Genetics, Online First: 30 Aug, 2024. doi:10.24911/JBCGenetics.183-1708424799




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