ISSN 0564-3783  



Main page
Contacts
Themes
Archive  
Themes
Subscription
Information to authors
Editorial board
Mobile version


In Ukrainian

Export citations
UNIMARC
BibTeX
RIS





Detection of chromosomal aneuploidies in human blastomeres using FISH increases success of IVF by improving the chances of embryo progress to delivery

Semikhodskii A., Ismayilova M.

 




SUMMARY. Efficiency of PGT-A have been studied in patients with previous IVF failure, recurrent pregnancy loss, idiopathic infertility and infertility due to other causes. More than 50 % of all embryos produced in four experimental and one control groups were found to be aneuploid. Aneuploidies of autosomes 15 and 18 and of both sex chromosomes were the ones most frequently observed. Most aneuploidies were detected in patients with previous IVF failure and idiopathic infertility. After selecting euploid embryos for transfer high clinical pregnancy rates were achieved in all study groups. In at least 30 % of patients in each study group IVF treatment coupled with PGT-A resulted in live birth. The highest live birth rate was observed in patients with recurrent pregnancy loss and previous IVF failure thus clearely demostrating the benefits of offering PGT-A as part of treatment for various types of infertility.

Key words: FISH, PGT-A, IVF, ART, Aneuploidy, Recurring pregnancy loss, Idiopathic infertility, IVF failure

Tsitologiya i Genetika 2022, vol. 56, no. 3, pp. 3-13

  1. Medical Genomics Ltd, London, United Kingdom, 134 Somerset Road, London, SW19 5HP, United Kingdom
  2. , 76, , AZ1006
  3. Medical Genomics Ltd, London, UK134 Somerset Road, London, SW19 5HP, UK Central Clinic Hospital76 Parliament Ave., Baku, Azerbaijan AZ1006

E-mail: andrei medicalgenomics.co.uk, mahiremk hotmail.com

Semikhodskii A., Ismayilova M. Detection of chromosomal aneuploidies in human blastomeres using FISH increases success of IVF by improving the chances of embryo progress to delivery, Tsitol Genet., 2022, vol. 56, no. 3, pp. 3-13.

In "Cytology and Genetics":
A. Semikhodskii & M. Ismayilova Detection of Chromosomal Aneuploidies in Human Blastomeres Using FISH Increases the Success of IVF by Improving the Chances of Embryo Progress to Delivery, Cytol Genet., 2022, vol. 56, no. 3, pp. 209217
DOI: 10.3103/S0095452722030124


References

Andersen, C.Y. and Andersen, K.V., Improving the luteal phase after ovarian stimulation: reviewing new options, Reprod. BioMed. Online, 2014, vol. 28, no. 5, pp. 552559. https://doi.org/10.1016/j.rbmo.2014.01.012

Álvarez, C., García-Garrido, C., Taronger, R., and González de Merlo, G., In vitro maturation, fertilization, embryo development and clinical outcome of human metaphase-I oocytes retrieved from stimulated intracytoplasmic sperm injection cycles, Indian J. Med. Res., 2013, vol. 137, no. 2, pp. 331338.

Baltaci, V., Satiroglu, H., Kabukçu, C., Ünsal, E., Aydinuraz, B., Üner, O., Aktas, Y., Çetinkaya, E., Turhan, F., and Aktan, A., Relationship between embryo quality and aneuploidies, Reprod. BioMed. Online, 2006, vol. 12, no. 1, pp. 7782. https://doi.org/10.1016/s1472-6483(10)60984-4

Bianco, K., Caughey, A.B., Shaffer, B.L., Davis, R., and Norton, M.E., History of miscarriage and increased incidence of fetal aneuploidy in subsequent pregnancy, Obstet. Gynecol., 2006, vol. 107, no. 5, pp. 10981102. https://doi.org/10.1097/01.AOG.0000215560.86673.22

Colls, P., Escudero, T., Fischer, J., Cekleniak, N.A., Ben-Ozer, S., Meyer, B., Damien, M., Grifo, J.A., Hershlag, A., and Munné, S., Validation of array comparative genome hybridization for diagnosis of translocations in preimplantation human embryos, Reprod. BioMed. Online, 2012, vol. 24, no. 6, pp. 621629. https://doi.org/10.1016/j.rbmo.2012.02.006

Dahan, M.H. and Tannus, S., Believing that transferring more embryos will result in increased pregnancy rates: a flawed concept: a SWOT analysis, Middle East Fertil. Soc. J., 2020, vol. 25, art. ID 32. https://doi.org/10.1186/s43043-020-00042-3

Elsayed, G.M., El Assiouty, L., and El Sobky, E.S., The importance of rapid aneuploidy screening and prenatal diagnosis in the detection of numerical chromosomal abnormalities, SpringerPlus, 2013, vol. 29, no. 2, art. ID 490. https://doi.org/10.1186/2193-1801-2-490

Esfandiari, N., Bunnell, M.E., and Casper, R.F., Human embryo mosaicism: did we drop the ball on chromosomal testing?, J. Assist. Reprod. Genet., 2016, vol. 33, no. 11, pp. 14391444. https://doi.org/10.1007/s10815-016-0797-y

Ferraretti, A.P., Magli, M.C., Kopcow, L., and Gianaroli, L., Prognostic role of preimplantation genetic diagnosis for aneuploidy in assisted reproductive technology outcome, Hum. Reprod., 2004, vol. 19, no. 3, pp. 694699. https://doi.org/10.1093/humrep/deh121

Forman, E.J., Hong, K.H., Treff, N.R., and Scott, R.T., Comprehensive chromosome screening and embryo selection: moving toward single euploid blastocyst transfer, Semin. Reprod. Med., 2012, vol. 30, no. 3, pp. 236242. https://doi.org/10.1055/s-0032-1311526

Forman, E.J., Upham, K.M., Cheng, M., Zhao, T., Hong, K.H., Treff, N.R., and Scott, R.T.Jr., Comprehensive chromosome screening alters traditional morphology-based embryo selection: a prospective study of 100 consecutive cycles of planned fresh euploid blastocyst transfer, Fertil. Steril., 2013, vol. 100, no. 3, pp. 718724. https://doi.org/10.1016/j.fertnstert.2013.04.043

Franasiak, J.M., Forman, E.J., Hong, K.H., Werner, M.D., Upham, K.M., Treff, N.R., and Scott, R.T. Jr., The nature of aneuploidy with increasing age of the female partner: a review of 15,169 consecutive trophectoderm biopsies evaluated with comprehensive chromosomal screening, Fertil. Steril., 2014, vol. 101, no. 3, pp. 656663. https://doi.org/10.1016/j.fertnstert.2013.11.004

Gianaroli, L., Magli, M.C., Ferraretti, A.P., Fiorentino, A., Garrisi, J., and Munné, S., Preimplantation genetic diagnosis increases the implantation rate in human in vitro fertilization by avoiding the transfer of chromosomally abnormal embryos, Fertil. Steril., 1997, vol. 68, no. 6, pp. 11281131. https://doi.org/10.1016/s0015-0282(97)00412-3

Gleicher, N., Vidali, A., Braverman, J., Kushnir, V.A., Barad, D.H., Hudson, C., Wu, Y.G., Wang, Q., Zhang, L., and Albertini, D.F., Accuracy of preimplantation genetic screening (PGS) is compromised by degree of mosaicism of human embryos, Reprod. Biol. Endocrinol., 2016, vol. 14, no. 1, art. ID 54. https://doi.org/10.1186/s12958-016-0193-6

Greco, E., Litwicka, K., Minasi, M.G., Cursio, E., Greco, P.F., and Barillari, P., Preimplantation genetic testing: where we are today, Int. J. Mol. Sci., 2020, vol. 21, no. 12, art. ID 4381. https://doi.org/10.3390/ijms21124381

Hodes-Wertz, B., Grifo, J., Ghadir, S., Kaplan, B., Laskin, C.A., Glassner, M., and Munné, S., Idiopathic recurrent miscarriage is caused mostly by aneuploid embryos, Fertil. Steril., 2012, vol. 98, no. 3, pp. 675680. https://doi.org/10.1016/j.fertnstert.2012.05.025

Homer, H.A., Preimplantation genetic testing for aneuploidy (PGT-A): The biology, the technology and the clinical outcomes, Aust. N. Z. J. Obstet. Gynaecol., 2019, vol. 59, no. 2, pp. 317324. https://doi.org/10.1111/ajo.12960

Leth-Moller, K., Hammer, Jagd, S., and Humaidan, P., The luteal phase after GnRHa trigger-understanding an enigma, Int. J. Fertil. Steril., 2014, vol. 8, no. 3, pp. 227234

Liu, X.Y., Fan, Q., Wang, J., Li, R., Xu, Y., Guo, J., Wang, Y.Z., Zeng, Y.H., Ding, C.H., Cai, B., Zhou, C.Q., and Xu, Y.W., Higher chromosomal abnormality rate in blastocysts from young patients with idiopathic recurrent pregnancy loss, Fertil. Steril., 2020, vol. 113, no. 4, pp. 853864. https://doi.org/10.1016/j.fertnstert.2019.11.016

Masbou, A.K., Friedenthal, J.B., McCulloh, D.H., McCaffrey, C., Fino, M.E., Grifo, J.A., and Licciardi, F., A Comparison of pregnancy outcomes in patients undergoing donor egg single embryo transfers with and without preimplantation genetic testing, Reprod. Sci., 2019, vol. 26, no. 12, pp. 16611665. https://doi.org/10.1177/1933719118820474

Masschaele, T., Gerris, J., Vandekerckhove, F., and De Sutter, P., Does transferring three or more embryos make sense for a well-defined population of infertility patients undergoing IVF/ICSI?, Facts Views Vis. Obstet. Gynaecol., 2012, vol. 4, no. 1, pp. 5158

Maxwell, S.M. and Grifo, J.A., Should every embryo undergo preimplantation genetic testing for aneuploidy? A review of the modern approach to in vitro fertilization, Best Pract. Res. Clin. Obstet. Gynaecol., 2018, vol. 3, pp. 3847. https://doi.org/10.1016/j.bpobgyn.2018.07.005

Mersereau, J.E., Pergament, E., Zhang, X., and Milad, M.P., Preimplantation genetic screening to improve in vitro fertilization pregnancy rates: a prospective randomized controlled trial, Fertil. Steril., 2008, vol. 90, no. 4, pp. 12871289. https://doi.org/10.1016/j.fertnstert.2007.08.010

Meyer, L.R., Klipstein, S., Hazlett, W.D., Nasta, T., Mangan, P., and Karande, V.C., A prospective randomized controlled trial of preimplantation genetic screening in the good prognosis patient, Fertil. Steril., 2009, vol. 91, no. 5, pp. 17311738. https://doi.org/10.1016/j.fertnstert.2008.02.162

Munné, S., Lee, A., Rosenwaks, Z., Grifo, J., and Cohen, J., Fertilization and early embryology: Diagnosis of major chromosome aneuploidies in human preimplantation embryos, Hum. Reprod., 1993, vol. 8, no. 12, pp. 21852191. https://doi.org/10.1093/oxfordjournals.humrep.a138001

Munné, S., Velilla, E., Colls, P., Garcia Bermudez, M., Vemuri, M.C., Steuerwald, N., Garrisi, J., and Cohen, J., Self-correction of chromosomally abnormal embryos in culture and implications for stem cell production, Fertil. Steril., 2005, vol. 84, no. 5, pp. 13281334. https://doi.org/10.1016/j.fertnstert.2005.06.025

Papler, T.B., Bokal, E.V., Maver, A., and Lovrečić, L., Specific gene expression differences in cumulus cells as potential biomarkers of pregnancy, Reprod. BioMed. Online, 2015, vol. 30, no. 4, pp. 426433. https://doi.org/10.1016/j.rbmo.2014.12.011

Practice Committee of the American Society for Reproductive Medicine, Prevention and treatment of moderate and severe ovarian hyperstimulation syndrome: a guideline, Fertil. Steril., 2016, vol. 106, no. 7, pp. 16341647. https://doi.org/10.1016/j.fertnstert.2016.08.048

Rubio, C., Bellver, J., Rodrigo, L., Bosch, E., Mercader, A., Vidal, C., De los Santos, M.J., Giles, J., Labarta, E., Domingo, J., Crespo, J., Remohí, J., Pellicer, A., and Simón, C., Preimplantation genetic screening using fluorescence in situ hybridization in patients with repetitive implantation failure and advanced maternal age: two randomized trials, Fertil. Steril., 2013, vol. 99, no. 5, pp. 14001407. https://doi.org/10.1016/j.fertnstert.2012.11.041

Rubio, C., Bellver, J., Rodrigo, L., Castillón, G., Guillén, A., Vidal, C., Giles, J., Ferrando, M., Cabanillas, S., Remohí, J., Pellicer, A., and Simón, C., In vitro fertilization with preimplantation genetic diagnosis for aneuploidies in advanced maternal age: a randomized, controlled study, Fertil. Steril., 2017, vol. 107, no. 5, pp. 11221129. https://doi.org/10.1016/j.fertnstert.2017.03.011

Sahin, L., Bozkurt, M., Sahin, H., Gürel, A., and Yumru, A.E., Is preimplantation genetic diagnosis the ideal embryo selection method in aneuploidy screening?, Kaohsiung J. Med. Sci., 2014, vol. 30, no. 10, pp. 491498. https://doi.org/10.1016/j.kjms.2014.05.008

Sato, T., Sugiura-Ogasawara, M., Ozawa, F., Yamamoto, T., Kato, T., Kurahashi, H., Kuroda, T., Aoyama, N., Kato, K., Kobayashi, R., Fukuda, A., Utsunomiya, T., Kuwahara, A., Saito, H., Takeshita, T., and Irahara, M., 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, Hum. Reprod., 2019, vol. 34, no. 12, pp. 23402348. https://doi.org/10.1093/humrep/dez229

Schatten, H., Sun, Q.Y., and Prather, R., The impact of mitochondrial function/dysfunction on IVF and new treatment possibilities for infertility, Reprod. Biol. Endocrinol., 2014, vol. 12, art. ID 111. https://doi.org/10.1186/1477-7827-12-111

Schmutzler, A.G., Theory and practice of preimplantation genetic screening (PGS), Eur. J. Med. Genet., 2019, vol. 62, no. 8, art. ID 103670. https://doi.org/10.1016/j.ejmg.2019.103670

Schmutzler, A.G., Acar-Perk, B., Weimer, J., Salmassi, A., Sievers, K., Tobler, M., Mettler, L., Jonat, W., and Arnold, N., Oocyte morphology on day 0 correlates with aneuploidy as detected by polar body biopsy and FISH, Arch. Gynecol. Obstet., 2014, vol. 289, no. 2, pp. 445450. https://doi.org/10.1007/s00404-013-2944-3

Schoolcraft, W.B., Katz-Jaffe, M.G., Stevens, J., Rawlins, M., and Munné, S., Preimplantation aneuploidy testing for infertile patients of advanced maternal age: a randomized prospective trial, Fertil. Steril., 2009, vol. 92, no. 1, pp. 157162. https://doi.org/10.1016/j.fertnstert.2008.05.029

Scott, R.T. Jr., Upham, K.M., Forman, E.J., Hong, K.H., Scott, K.L., Taylor, D., Tao, X., and Treff, N.R., Blastocyst biopsy with comprehensive chromosome screening and fresh embryo transfer significantly increases in vitro fertilization implantation and delivery rates: a randomized controlled trial, Fertil. Steril., 2013, vol. 100, no. 3, pp. 697703. https://doi.org/10.1016/j.fertnstert.2013.04.035

Sciorio, R., Thong, D., Thong, K.J., and Pickering, S.J., Clinical pregnancy is significantly associated with the blastocyst width and area: a time-lapse study, J. Assisted Reprod. Genet., 2021. https://doi.org/10.1007/s10815-021-02071-x

Sills, E.S., Li, X., Frederick, J.L., Khoury, C.D., and Potter, D.A., Determining parental origin of embryo aneuploidy: analysis of genetic error observed in 305 embryos derived from anonymous donor oocyte IVF cycles, Mol. Cytogenet., 2014, vol. 7, no. 1, art. ID 68. https://doi.org/10.1186/s13039-014-0068-5

Staessen, C., Platteau, P., Van Assche, E., Michiels, A., Tournaye, H., Camus, M., Devroey, P., Liebaers, I., and Van Steirteghem, A., Comparison of blastocyst transfer with or without preimplantation genetic diagnosis for aneuploidy screening in couples with advanced maternal age: a prospective randomized controlled trial, Hum. Reprod., 2004, vol. 19, no. 12, pp. 28492858. https://doi.org/10.1093/humrep/deh536

Verpoest, W., Staessen, C., Bossuyt, P.M., Goossens, V., Altarescu, G., Bonduelle, M., Devesa, M., Eldar-Geva, T., Gianaroli, L., Griesinger, G., Kakourou, G., Kokkali, G., Liebenthron, J., Magli, M.C., Parriego, M., Schmutzler, A.G., Tobler, M., van der Ven, K., Geraedts, J., and Sermon, K., Preimplantation genetic testing for aneuploidy by microarray analysis of polar bodies in advanced maternal age: a randomized clinical trial, Hum. Reprod., 2018, vol. 33, no. 9, pp. 17671776. https://doi.org/10.1093/humrep/dey262

Yang, X., Huang, R., Wang, Y.-F., and Liang, X.-Y., Pituitary suppression before frozen embryo transfer is beneficial for patients suffering from idiopathic repeated implantation failure, J. Huazhong Univ. Sci. Technol., Med. Sci., 2016, vol. 36, no. 1, pp. 127131. https://doi.org/10.1007/s11596-016-1554-2

Yang, Z., Liu, J., Collins, G.S., Salem, S.A., Liu, X., Lyle, S.S., Peck, A.C., Sills, E.S., and Salem, R.D., Selection of single blastocysts for fresh transfer via standard morphology assessment alone and with array CGH for good prognosis IVF patients: results from a randomized pilot study, Mol. Cytogenet., 2012, vol. 5, no. 1, art. ID 24. https://doi.org/10.1186/1755-8166-5-24

Zheng, Y.M., Wang, N., Li, L., and Jin, F., Whole genome amplification in preimplantation genetic diagnosis, J. Zhejiang Univ., Sci., B., 2011, vol. 12, no. 1, pp. 111. https://doi.org/10.1631/jzus.B1000196

Copyright© ICBGE 2002-2023 Coded & Designed by Volodymyr Duplij Modified 01.02.23