349
Views
5
CrossRef citations to date
0
Altmetric
Review

Genetic Testing for Aneuploidy in Patients Who Have Had Multiple Miscarriages: A Review of Current Literature

ORCID Icon &
Pages 321-329 | Published online: 23 Jul 2021

References

  • Practice Committee of the American Society for Reproductive Medicine. Evaluation and treatment of recurrent pregnancy loss: a committee opinion. Fertil Steril. 2012;98(5):1103–1111. doi:10.1016/j.fertnstert.2012.06.048
  • Bender Atik R, Christiansen OB, Elson J; ESHRE Guideline Group on RPL. ESHRE guideline: recurrent pregnancy loss. Human Reproduction Open. 2018;2018(2):hoy004. doi:10.1093/hropen/hoy004
  • van Dijk MM, Kolte AM, Limpens J, et al. Recurrent pregnancy loss: diagnostic workup after two or three pregnancy losses? A systematic review of the literature and meta-analysis. Hum Reprod Update. 2020;26(3):356–367. doi:10.1093/humupd/dmz048
  • Shahine L, Lathi R. Recurrent pregnancy loss: evaluation and treatment. Obstetrics Gynecol Clin. 2015;42(1):117–134. doi:10.1016/j.ogc.2014.10.002
  • Dimitriadis E, Menkhorst E, Saito S, Kutteh WH, Brosens JJ. Recurrent pregnancy loss. Nat Rev Dis Primers. 2020;6(1):1–9.
  • Popescu F, Jaslow CR, Kutteh WH. Recurrent pregnancy loss evaluation combined with 24-chromosome microarray of miscarriage tissue provides a probable or definite cause of pregnancy loss in over 90% of patients. Human Reproduction. 2018;33(4):579–587. doi:10.1093/humrep/dey021
  • Papas RS, Kutteh WH. A new algorithm for the evaluation of recurrent pregnancy loss redefining unexplained miscarriage: review of current guidelines. Curr Opin Obstet Gynecol. 2020;32(5):371–379. doi:10.1097/GCO.0000000000000647
  • Dahdouh EM, Kutteh WH. Genetic Testing of Products of Conception in Recurrent Pregnancy Loss Evaluation. Reprod Biomed Online. 2021. doi:10.1016/j.rbmo.2021.03.015
  • Edmonds DK, Lindsay KS, Miller JF, Williamson E, Wood PJ. Early embryonic mortality in women. Fertil Steril. 1982;38(4):447–453. doi:10.1016/S0015-0282(16)46579-9
  • Wilcox AJ, Weinberg CR, Baird DD. Risk factors for early pregnancy loss. Epidemiology. 1990;1(5):382–385. doi:10.1097/00001648-199009000-00008
  • van den Berg MM, van Maarle MC, van Wely M, Goddijn M. Genetics of early miscarriage. Biochimica et Biophysica Acta. 2012;1822(12):1951–1959. doi:10.1016/j.bbadis.2012.07.001
  • Maisenbacher MK, Merrion K, Kutteh WH. Single-nucleotide polymorphism microarray detects molar pregnancies in 3% of miscarriages. Fertil Steril. 2019;112(4):700–706. doi:10.1016/j.fertnstert.2019.06.015
  • Blue NR, Page JM, Silver RM. Genetic abnormalities and pregnancy loss. Semin Perinatol. 2019;43(2):66–73. doi:10.1053/j.semperi.2018.12.002
  • Dahdouh EM, Balayla J, García-Velasco JA. Comprehensive chromosome screening improves embryo selection: a meta-analysis. Fertil Steril. 2015;104(6):1503–1512. doi:10.1016/j.fertnstert.2015.08.038
  • Flynn H, Yan J, Saravelos SH, Li TC. Comparison of reproductive outcome, including the pattern of loss, between couples with chromosomal abnormalities and those with unexplained repeated miscarriages. J Obstetrics Gynaecol Res. 2014;40(1):109–116. doi:10.1111/jog.12133
  • Bedaiwy MA, Maithripala SI, Durland US, et al. Reproductive outcomes of couples with recurrent pregnancy loss due to parental chromosome rearrangement. Fertil Steril. 2016;106(3):e343. doi:10.1016/j.fertnstert.2016.07.970
  • Ikuma S, Sato T, Sugiura-Ogasawara M, Nagayoshi M, Tanaka A, Takeda S. Preimplantation genetic diagnosis and natural conception: a comparison of live birth rates in patients with recurrent pregnancy loss associated with translocation. PLoS One. 2015;10(6):e0129958. doi:10.1371/journal.pone.0129958
  • Iews M, Tan J, Taskin O, et al. Does preimplantation genetic diagnosis improve reproductive outcome in couples with recurrent pregnancy loss owing to structural chromosomal rearrangement? A systematic review. Reprod Biomed Online. 2018;36(6):677–685. doi:10.1016/j.rbmo.2018.03.005
  • Bernardi LA, Plunkett BA, Stephenson MD. Is chromosome testing of the second miscarriage cost saving? A decision analysis of selective versus universal recurrent pregnancy loss evaluation. Fertil Steril. 2012;98(1):156–161. doi:10.1016/j.fertnstert.2012.03.038
  • Brezina PR, Kutteh WH. Classic and cutting-edge strategies for the management of early pregnancy loss. Obstetrics Gynecol Clin. 2014;41(1):1–8. doi:10.1016/j.ogc.2013.10.011
  • Foyouzi N, Cedars MI, Huddleston HG. Cost-effectiveness of cytogenetic evaluation of products of conception in the patient with a second pregnancy loss. Fertil Steril. 2012;98(1):151–155. doi:10.1016/j.fertnstert.2012.04.007
  • Sahoo T, Dzidic N, Strecker MN, et al. Comprehensive genetic analysis of pregnancy loss by chromosomal microarrays: outcomes, benefits, and challenges. Genetics in Medicine. 2017;19(1):83–89. doi:10.1038/gim.2016.69
  • Mathur N, Triplett L, Stephenson MD. Miscarriage chromosome testing: utility of comparative genomic hybridization with reflex microsatellite analysis in preserved miscarriage tissue. Fertil Steril. 2014;101(5):1349–1352. doi:10.1016/j.fertnstert.2014.02.004
  • Wang BT, Chong TP, Boyar FZ, et al. Abnormalities in spontaneous abortions detected by G-banding and chromosomal microarray analysis (CMA) at a national reference laboratory. Mol Cytogenet. 2014;7(1):1–6. doi:10.1186/1755-8166-7-33
  • Levy B, Sigurjonsson S, Pettersen B, et al. Genomic imbalance in products of conception: single-nucleotide polymorphism chromosomal microarray analysis. Obstet Gynecol. 2014;124(2 PART 1):202–209. doi:10.1097/AOG.0000000000000325
  • Robberecht C, Schuddinck V, Fryns JP, Vermeesch JR. Diagnosis of miscarriages by molecular karyotyping: benefits and pitfalls. Genetics in Medicine. 2009;11(9):646–654. doi:10.1097/GIM.0b013e3181abc92a
  • Ogasawara M, Aoki K, Okada S, Suzumori K. Embryonic karyotype of abortuses in relation to the number of previous miscarriages. Fertil Steril. 2000;73(2):300–304. doi:10.1016/S0015-0282(99)00495-1
  • Goldstein M, Svirsky R, Reches A, Yaron Y. Does the number of previous miscarriages influence the incidence of chromosomal aberrations in spontaneous pregnancy loss? J Mater Fetal Neonatal Med. 2017;30(24):2956–2960. doi:10.1080/14767058.2016.1269317
  • Zhu X, Li J, Zhu Y, et al. Application of chromosomal microarray analysis in products of miscarriage. Mol Cytogenet. 2018;11(1):1–6. doi:10.1186/s13039-018-0396-y
  • Viotti M. Preimplantation genetic testing for chromosomal abnormalities: aneuploidy, mosaicism, and structural rearrangements. Genes. 2020;11(6):602. doi:10.3390/genes11060602
  • Carvalho F, Coonen E, Goossens V, et al.; ESHRE PGT Consortium Steering Committee. ESHRE PGT Consortium good practice recommendations for the organisation of PGT. Human Reproduction Open. 2020;2020(3):hoaa021. doi:10.1093/hropen/hoaa021
  • Huang C, Jiang W, Zhu Y, et al. Pregnancy outcomes of reciprocal translocation carriers with two or more unfavorable pregnancy histories: before and after preimplantation genetic testing. J Assist Reprod Genet. 2019;36(11):2325–2331. doi:10.1007/s10815-019-01585-9
  • Tan YQ, Tan K, Zhang SP, et al. Single-nucleotide polymorphism microarray-based preimplantation genetic diagnosis is likely to improve the clinical outcome for translocation carriers. Human Reproduction. 2013;28(9):2581–2592. doi:10.1093/humrep/det271
  • Treff NR, Northrop LE, Kasabwala K, Su J, Levy B, Scott JRT. Single nucleotide polymorphism microarray–based concurrent screening of 24-chromosome aneuploidy and unbalanced translocations in preimplantation human embryos. Fertil Steril. 2011;95(5):1606–1612. doi:10.1016/j.fertnstert.2010.11.004
  • Dahdouh EM, Balayla J, Audibert F, et al. Technical update: preimplantation genetic diagnosis and screening. J Obstetrics Gynaecol Canada. 2015;37(5):451–463. doi:10.1016/S1701-2163(15)30261-9
  • Paulson RJ. Hidden in plain sight: the overstated benefits and underestimated losses of potential implantations associated with advertised PGT-A success rates. Human Reproduction. 2020;35(3):490–493. doi:10.1093/humrep/dez280
  • Munné S, Kaplan B, Frattarelli JL, et al. Preimplantation genetic testing for aneuploidy versus morphology as selection criteria for single frozen-thawed embryo transfer in good-prognosis patients: a multicenter randomized clinical trial. Fertil Steril. 2019;112(6):1071–1079. doi:10.1016/j.fertnstert.2019.07.1346
  • Deng J, Hong HY, Zhao Q, et al. Preimplantation genetic testing for aneuploidy in poor ovarian responders with four or fewer oocytes retrieved. J Assist Reprod Genet. 2020;37(5):1147–1154. doi:10.1007/s10815-020-01765-y
  • Liu XY, Fan Q, Wang J. Higher chromosomal abnormality rate in blastocysts from young patients with idiopathic recurrent pregnancy loss. Fertil Steril. 2020;113(4):853–864. doi:10.1016/j.fertnstert.2019.11.016
  • Murugappan G, Shahine LK, Perfetto CO, Hickok LR, Lathi RB. Intent to treat analysis of in vitro fertilization and preimplantation genetic screening versus expectant management in patients with recurrent pregnancy loss. Human Reproduction. 2016;31(8):1668–1674. doi:10.1093/humrep/dew135
  • Lei C, Sui Y, Ye J, et al. Comparison of PGS 2.0 versus conventional embryo morphology evaluation for patients with recurrent pregnancy loss: a study protocol for a multicentre randomized trial. BMJ Open. 2020;10(10):e036252.
  • Lei C, Sui Y, Ye J, et al. Comparison of PGT-A versus conventional embryo morphology evaluation for patients with recurrent pregnancy loss: a study protocol for a multicentre randomised trial. BMJ Open. 2020;10(10):e036252. doi:10.1136/bmjopen-2019-036252
  • Sato T, Sugiura-Ogasawara M, Ozawa F, et al. Preimplantation genetic testing for aneuploidy: a comparison of live birth rates in patients with recurrent pregnancy loss due to embryonic aneuploidy or recurrent implantation failure. Human Reproduction. 2019;34(12):2340–2348. doi:10.1093/humrep/dez229
  • Zhou T, Zhu Y, Zhang J, et al. Effects of PGT-A on Pregnancy Outcomes for Young Women Having One Previous Miscarriage with Genetically Abnormal Products of Conception. Reproductive Sci. 2021;1–7. doi:10.1007/s43032-020-00271-x
  • Lee M, Lofgren KT, Thomas A, et al. The cost-effectiveness of preimplantation genetic testing for aneuploidy in the United States: an analysis of cost and birth outcomes from 158,665 in vitro fertilization cycles. Am J Obstet Gynecol. 2021. doi:10.1016/j.ajog.2021.01.021
  • Bunnewell SJ, Honess ER, Karia AM, Keay SD, Al Wattar BH, Quenby S. Diminished ovarian reserve in recurrent pregnancy loss: a systematic review and meta-analysis. Fertil Steril. 2020;113(4):818–827. doi:10.1016/j.fertnstert.2019.11.014
  • Yaron Y, Pauta M, Badenas C, et al. Maternal plasma genome-wide cell-free DNA can detect fetal aneuploidy in early and recurrent pregnancy loss and can be used to direct further workup. Human Reproduction. 2020;35(5):1222–1229. doi:10.1093/humrep/deaa073
  • Colley E, Devall AJ, Williams H, et al. DNA in the Investigation of Miscarriage. J Clin Med. 2020;9(11):3428. doi:10.3390/jcm9113428
  • Mainsenbacher MK, Merrion K, Levy B, Kutteh WH Single nucleotide polymorphism (SNP) array analysis of 63,277 products of conception (POC) samples: a 10-year laboratory experience. Fertility and Sterility. 2020;114(3):e47.