Deconstructing Preimplantation Genetic Diagnosis
DOI:
https://doi.org/10.47611/jsrhs.v12i3.4775Keywords:
PGD, Preimplantation Genetic Diagnosis, Reproductive Technology, Diagnostic TechnologyAbstract
In recent years, infertility rates have been on the rise, with 19% of women aged 15-49 having difficulties getting pregnant and 26% of women having difficulties carrying such fetuses to term (Centers for Disease Control and Prevention, 2019). This statistic also comes in concert with recent research suggesting a rise in congenital defects and abnormalities in neonates (Silesh et al., 2021). In association with these troubling trends, however, are developments in reproductive technologies and assessments. One such of these technologies is preimplantation genetic testing, otherwise abbreviated PGD. This technique uniquely allows for the detection of chromosomal abnormalities and congenital defects and, used in conjunction with IVF treatments, has seen implementation in around 5 percent of all U.S. IVF cycles (“A Microdeletion, They Called It.,” 2015). Despite the hope that the testing method allows for families around the world, PGD is not without its limitations. This paper first explores PGD, determining the testing process and pinpointing its applications' current extent. It then transitions to analyzing the current methods of sampling and analysis housed in PGD, determining their benefits as well as their detriments. It finally contrasts present methods with the many proposed advances, analyzes the feasibility of such advances, and compares the benefits and limitations of these new treatment plans to conclude the best combination of developments is Blastocyst biopsy and Next Generation Sequencing for the advancement of PGD as a diagnostic procedure.
Downloads
References or Bibliography
A microdeletion, they called it. (2015). Women’s Health, 12(2). EBSCO. https://search.ebscohost.com/login.aspx?direct=true&AuthType=cookie,shib,sso,url,uid,clever&db=f6h&AN=100885561&authtype=shib&site=ehost-live&custid=s8455861
Abhari, S., & Kawwass, J. F. (2021). Pregnancy and Neonatal Outcomes after Transfer of Mosaic Embryos: A Review. Journal of Clinical Medicine, 10(7), 1369. https://doi.org/10.3390/jcm10071369
Alekseyev, Y. O., Fazeli, R., Yang, S., Basran, R., Maher, T., Miller, N. S., & Remick, D. (2018). A Next-Generation Sequencing Primer—How Does It Work and What Can It Do? Academic Pathology, 5, 237428951876652. https://doi.org/10.1177/2374289518766521
Bar-El, L., Kalma, Y., Malcov, M., Schwartz, T., Raviv, S., Cohen, T., Amir, H., Cohen, Y., Reches, A., Amit, A., & Ben-Yosef, D. (2016). Blastomere biopsy for PGD delays embryo compaction and blastulation: a time-lapse microscopic analysis. Journal of Assisted Reproduction and Genetics, 33(11), 1449–1457. https://doi.org/10.1007/s10815-016-0813-2
Bejjani, B. A., & Shaffer, L. G. (2006). Application of Array-Based Comparative Genomic Hybridization to Clinical Diagnostics. The Journal of Molecular Diagnostics, 8(5), 528–533. https://doi.org/10.2353/jmoldx.2006.060029
CDC. (2018, April 30). Data & Statistics on Birth Defects. Centers for Disease Control and Prevention. https://www.cdc.gov/ncbddd/birthdefects/data.html
Centers for Disease Control and Prevention. (2019). Infertility. Centers for Disease Control and Prevention. https://www.cdc.gov/reproductivehealth/infertility/index.htm
Flinter, F. A. (2001). Preimplantation genetic diagnosis. BMJ : British Medical Journal, 322(7293), 1008–1009. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1120169/
Fluorescence In Situ Hybridization Fact Sheet. (n.d.). Genome.gov. https://www.genome.gov/about-genomics/fact-sheets/Fluorescence-In-Situ-Hybridization#:~:text=Fluorescence%20in%20situ%20hybridization%20
Fowler, K. E., Mandawala, A. A., Griffin, D. K., Walling, G. A., & Harvey, S. C. (2018). The production of pig preimplantation embryos in vitro: Current progress and future prospects. Reproductive Biology, 18(3), 203–211. https://doi.org/10.1016/j.repbio.2018.07.001
Kralik, P., & Ricchi, M. (2017). A Basic Guide to Real Time PCR in Microbial Diagnostics: Definitions, Parameters, and Everything. Frontiers in Microbiology, 8(1). https://doi.org/10.3389/fmicb.2017.00108
LaFramboise, T. (2009). Single nucleotide polymorphism arrays: a decade of biological, computational and technological advances. Nucleic Acids Research, 37(13), 4181–4193. https://doi.org/10.1093/nar/gkp552
Lemmen, J., Agerholm, I., & Ziebe, S. (2008). Kinetic markers of human embryo quality using time-lapse recordings of IVF/ICSI-fertilized oocytes. Reproductive BioMedicine Online, 17(3), 385–391. https://doi.org/10.1016/s1472-6483(10)60222-2
Lu, L., Lv, B., Huang, K., Xue, Z., Zhu, X., & Fan, G. (2016). Recent advances in preimplantation genetic diagnosis and screening. Journal of Assisted Reproduction and Genetics, 33(9), 1129–1134. https://doi.org/10.1007/s10815-016-0750-0
National Human Genome Research Institute. (2020, August 17). Polymerase chain reaction (PCR) fact sheet. Genome.gov; National Human Genome Research Institute. https://www.genome.gov/about-genomics/fact-sheets/Polymerase-Chain-Reaction-Fact-Sheet
NCBI. (2017). Polymerase Chain Reaction (PCR). Nih.gov; National Library of Medicine. https://www.ncbi.nlm.nih.gov/probe/docs/techpcr/
Pinkel, D., & Albertson, D. G. (2005). COMPARATIVE GENOMIC HYBRIDIZATION. Annual Review of Genomics and Human Genetics, 6(1), 331–354. https://doi.org/10.1146/annurev.genom.6.080604.162140
Shi, W., Zhao, Z., Xue, X., Li, Q., Yao, Y., Wang, D., Wang, J., Lu, S., & Shi, J. (2022). Ploidy Testing of Blastocoel Fluid for Screening May Be Technically Challenging and More Invasive Than That of Spent Cell Culture Media. Frontiers in Physiology, 13. https://doi.org/10.3389/fphys.2022.794210
Silesh, M., Lemma, T., Fenta, B., & Biyazin, T. (2021). Prevalence and Trends of Congenital Anomalies Among Neonates at Jimma Medical Center, Jimma, Ethiopia: A Three-Year Retrospective Study. Pediatric Health, Medicine and Therapeutics, Volume 12, 61–67. https://doi.org/10.2147/phmt.s293285
Stern, H. (2014). Preimplantation Genetic Diagnosis: Prenatal Testing for Embryos Finally Achieving Its Potential. Journal of Clinical Medicine, 3(1), 280–309. https://doi.org/10.3390/jcm3010280
Ven, K. van der, Montag, M., & Ven, H. van der. (2008). Polar Body Diagnosis – A Step in The Right Direction? Deutsches Aerzteblatt Online. https://doi.org/10.3238/arztebl.2008.0190
Yang, Y.-S., Chang, S.-P., Chen, H.-F., Ma, G.-C., Lin, W.-H., Lin, C.-F., Tsai, F.-P., Wu, C.-H., Tsai, H.-D., Lee, T.-H., & Chen, M. (2015). Preimplantation genetic screening of blastocysts by multiplex qPCR followed by fresh embryo transfer: validation and verification. Molecular Cytogenetics, 8(1). https://doi.org/10.1186/s13039-015-0140-9
Published
How to Cite
Issue
Section
Copyright (c) 2023 Diya Menon; Rajagopal Appavu, Jothsna Kethar
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.
Copyright holder(s) granted JSR a perpetual, non-exclusive license to distriute & display this article.