The Role of Chromosomal Aberrations in Recurrent Pregnancy Loss
DOI:
https://doi.org/10.58445/rars.458Keywords:
Chromosomal Aberrations, Product of Conception, Conventional Karyotyping, Fluorescent In-Situ HybridisationAbstract
Miscarriage is the loss of pregnancy before the 20-24th week of gestation. The loss of more than two pregnancies before 20 weeks of gestation is referred to as recurrent pregnancy loss (RPL), recurrent miscarriages (RM), or spontaneous abortion due to natural foetal loss (ASRM) by the European Society of Human Reproduction and Embryology (ESHRE), and by the American Society for Reproductive Medicine (ASRM). The most commonly known factors responsible for miscarriages include chromosomal aberrations, anatomical abnormalities of the uterus, endocrine dysfunction, immunological issues, congenital irregularities, infectious diseases, and psychological and environmental factors. Approximately 50% of these are unexplained recurrent pregnancy losses (URPL). The current research study focuses on Recurrent Pregnancy Loss due to Chromosomal aberrations. In this study, 24 Blood samples and 5 Products of Conception (POC) samples were harvested from individuals with RPL and were analyzed through Conventional karyotyping and Fluorescent in-situ Hybridisation (FISH), respectively. Around 16.66% of the blood samples showed an abnormal karyotype, whereas 2 out of the 5 POC samples had trisomy 21.
Keywords: Chromosomal Aberrations, Product of Conception, Conventional Karyotyping, Fluorescent In-Situ Hybridisation.
References
ACOG: Home. Retrieved September 3, 2023, from https://www.acog.org/
Barnabei, V. M., Grady, D., Stovall, D. W., Cauley, J. A., Lin, F., Stuenkel, C. A., ... & Pickar, J. H. (2002). Menopausal symptoms in older women and the effects of treatment with hormone therapy. Obstetrics & Gynecology, 100(6), 1209-1218.
Boomsma, C. M., Fauser, B. C., & Macklon, N. S. (2008). Pregnancy complications in women with polycystic ovary syndrome. Seminars in Reproductive Medicine, 26(1), 72−84.
Bull, M. J. (2020). Down syndrome. New England Journal of Medicine, 382(24), 2344-2352.
Causes of Pregnancy Loss. Retrieved August 29, 2023, from https://uscfertility.org/usc-center-pregnancy-loss/causes-recurrent-pregnancy-loss/
Dimitriadis, E., Menkhorst, E., Saito, S., Kutteh, W. H., & Brosens, J. J. (2020). Recurrent pregnancy loss. Nature reviews disease primers, 6(1), 98.
Elhady, G. M., Kholeif, S., & Nazmy, N. (2020). Chromosomal aberrations in 224 couples with recurrent pregnancy loss. Journal of Human Reproductive Sciences, 13(4), 340.
Genetic Alliance; The New York-Mid-Atlantic Consortium for Genetic and Newborn Screening Services. Understanding Genetics: A New York, Mid-Atlantic Guide for Patients and Health Professionals. Washington (DC): Genetic Alliance; 2009 Jul 8. APPENDIX F, CHROMOSOMAL ABNORMALITIES. Available from: https://www.ncbi.nlm.nih.gov/books/NBK115545/
Jacobs PA, Browne C, Gregson N, Joyce C, White H. Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding. J Med Genet. 1992;29:103–8.
Larsen, E. C., Christiansen, O. B., Kolte, A. M., & Macklon, N. (2013). New insights into mechanisms behind miscarriage. BMC medicine, 11(1), 1-10.
New Centralized Care for Patients with Mullerian Anomalies. (2022, March 3). Consult QD. Retrieved August 29, 2023, from https://consultqd.clevelandclinic.org/new-centralized-care-for-patients-with-mullerian-anomalies/
Pal, A. K., Ambulkar, P. S., Waghmare, J. E., Wankhede, V., Shende, M. R., & Tarnekar, A. M. (2018). Chromosomal aberrations in couples with pregnancy loss: a retrospective study. Journal of human reproductive sciences, 11(3), 247.
Sultana S, Nallari P, Ananthapur V. Recurrent pregnancy loss (RPL): an overview. J Women’s Health Dev 2020;03:302–15.
Sultana S, Nallari P, Ananthapur V. Recurrent pregnancy loss (RPL): an overview. J Women’s Health Dev 2020;03:302–15.
Van Dyke DL, Weiss L, Roberson JR, Babu VR. The frequency and mutation rate of balanced autosomal rearrangements in man estimated from prenatal genetic studies for advanced maternal age. Am J Hum Genet. 1983;35:301–8
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