The intersection of ART and molecular genetic science is fast growing. It is now possible to utilize the advances in molecular genetics for clinical application to detect chromosomal aberrations in preimplanting embryos.
As molecular genetic techniques have improved, it is now possible to test the complete characterization of human genome variation with reasonable accuracy. In this article, we have tried to summarize the common current indications of chromosomal analysis of preimplanting embryos in couples having various chromosomal dominant or chromosomal recessive heritable disorders leading to the birth of a new born baby with chromosomal aberrations or leading to repeated miscarriage.
The currently available techniques of embryo biopsy have their advantages and shortcomings. Today, preimplantation genetic testing to diagnose a euploid embryo is widely used in clinical practice in couples undergoing IVF ET treatment. By eliminating the transfer of aneuploid embryos, the pregnancy rate improves per embryo transfer and it shortens the time of conception from the start of IVF treatment. We have also discussed the current scenario of the place of PGT-A for routine use in IVF treatment procedure in view of the possible risk of losing euploid embryos due to the shortcoming of the embryo biopsy procedure.
This is a preview of subscription content, log in to check access.
Buy single article
Instant access to the full article PDF.
Tax calculation will be finalised during checkout.
Subscribe to journal
Immediate online access to all issues from 2019. Subscription will auto renew annually.
Tax calculation will be finalised during checkout.
Graffin DK, Ogur C. Chromosomal analysis in IVF: Just how useful is it? Reproduction. 2018;156(1):F29–50.
Munné S, Kaplan B, Frattarelli JL, Child T, Nakhuda G, 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):1071–9.
Carvalho F, Coonen E, Goossens V, Kokkali G, et al. ESHRE PGT Consortium good practice recommendations for the organisation of PGT. ESHRE PGT Consortium Steering Committee, Hum Reprod Open. 2020;29(3):21.
Seidel F. Die Entwicklugspotenzen einen isolierten Blastomere des Zweizellenstadiums im Saugetierei. Naturwissenschaften. 1952;39:355–6.
Gardner RL, Edwards RG. Control of the sex ratio at full term in the rabbit by transferring sexed blastocysts. Nature. 1968;218:346–8.
Wilton LJ, Trounson AO. Biopsy of preimplantation mouse embryos: development of micromanipulated embryos and proliferation of single blastomeres in vitro. Biol Reprod. 1989;40(1):145–52.
Monk M, Muggleton-Harris A, Rawlings E, Whittingham DG. Preimplantation diagnosis of HPRT-deficient male, and carrier female mouse embryos by trophectoderm biopsy. Hum Reprod. 1988;3:377–81.
Munné S, Weier HU, Stein J, Grifo J, Cohen J. A fast and efficient method for simultaneous X and Y in situ hybridization of human blastomeres. J Assist Reprod Genet. 1993;10:82–90.
Wells D, Sherlock JK, Handyside AH, Delhanty JD. Detailed chromosomal and molecular genetic analysis of single cells by whole genome amplification and comparative genomic hybridization. Nucleic Acids Res. 1999;27:1214–8.
Voullaire L, Wilton L, Slater H, Williamson R. Detection of aneuploidy in single cells using comparative genomic hybridization. Prenat Diagn. 1999;19:846–51.
Rechitsky S, Kuliev A, Sharapova T, et al. PGD impact on stem cell transplantation. Reprod Biomed Online. 2009;18(Supplement 3):S-2.
Kuchenbacker KB, Hopper JL, Barnes DR, et al. Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRACA2 mutation carriers. JAMA. 2017;317(23):2402–16.
Kuliev A, Pachalchuk T, Rechitsky S. Preimplantation genetic diagnosis (PGD) for heart disease determined by genetic factors. Arrhythm Open Access. 2015;1(1):103–6.
Fodina V, Dudorova A, Alksere B, et al. The application of PGT-A for carriers of balanced structural chromosomal rearrangements. J Gynaecol Endocrinol. 2019;35:18–23.
Scott RT, Upham KM, Forman EJ, et al. 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;100:697–703.
Forman EJ, Hong KH, Franasiak JM, et al. Obstetrical and neonatal outcomes from the BEST trial: single embryo transfer with aneuploidy screening improves outcomes after in vitro fertilization without compromising delivery rates. Am J Obstet Gynecol. 2014;210(2):157-e1.
Reignier A, Lammers J, Barriere P, Freour T. Can time-lapse parameters predict embryo ploidy? A systematic review. Reprod Biomed Online. 2018;36:380–7.
SART. Society for Assisted Reproductive Technology SART national summary report: final CSR for 2016. Available at: https://www.sartcorsonline.com/rptCSR_PublicMultYear.aspx?reportingYear=2016, Accessed 6th May 2019
Munné S. Status of preimplantation genetic testing and embryo selection Cooper Genomics, Trumbull, Connecticut, USA; Yale University. Spain: Department of Obstetrics and Gynecology and Reproductive Sciences; and Overture LifeBarcelona; 2018.
Brezina PR MD, Tobler KJ MD, et al. If any mosaicism is identified in the trophectoderm, there is a 26% chance of mosaicism being present in the inner cell mass; a clinical paradigm, do you transfer mosaic embryos? Fertil Steril. 2019;112(3):e238.
Practice Committee and Genetic Counseling Professional Group (GCPG) of the American Society for Reproductive Medicine. Clinical management of mosaic results from preimplantation genetic testing for aneuploidy (PGT-A) of blastocysts: a committee opinion. Fertil Steril. 2020;114:246–54.
Munne S, Blazek M, Large M, et al. A detailed investigation into the cytogenetic constitution and pregnancy outcome of replacing mosaic blastocysts detected with the use of high-resolution next-generation sequencing. Fertil Steril. 2017;108(1):62–71.
Munne S, Grifo D, Wells D, et al. Mosaicism: “survival of the fittest” versus “no embryo left behind”. Fertil Steril. 2016;105(5):1146–9.
Bolton H, Graham SJL, Zernicka-Goetz M, et al. Mouse model of chromosome mosaicism reveals lineage-specific depletion of aneuploid cells and normal developmental potential. Nat Commun. 2016;7:11165.
Fiorentino F, Gleicher N, Capalbo A, et al. The why, the how and the when of PGS 2.0: current practices and expert opinions of fertility specialists, molecular biologists, and embryologists. Mol Hum Reprod. 2016;22:845–57.
Harper JC, SenGupta S, Vesela K, Thornhill A, Dequeker E, Coonen E, Morris MA. Accreditation of the PGD laboratory. Hum Reprod. 2010;25:1051–65.
Bellver J, Bosch E, Espinós JJ, et al. Second-generation preimplantation genetic testing for aneuploidy in assisted reproduction: a SWOT analysis. RBM Online. 2019;39(6):905–15.
Shanguann T, He W, Li H, et al. Detection and analysis of DNA material in human blastocoel fluid. Biomed Genet Genom. 2017;2:1–5. https://doi.org/10.15761/BGG.1000128.
Yang L, Lv Q, Chen W, et al. Presence of embryonic DNA in the culture medium. Oncotarget. 2017;8(40):67805–9.
CR Lluesa. (2019). RBM Online. 39(Supplement 1): E32
Conflict of interest
Authors have no conflict of interest.
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Dr. Sadhana Desai is Professor Emirates Obstetrics & Gynaecology, Bombay Hospital Postgraduate Institute of Medical Science, Director, Fertility Clinic & IVF Centre, Mumbai, India. Vijay S Mangoli is a Laboratory Director, Fertility Clinic & IVF centre, Mumbai, India.
About this article
Cite this article
Desai, S.K., Mangoli, V.S. Chromosomal Analysis of Pre-implantation Embryos: Its Place in Current IVF Practice. J Obstet Gynecol India (2020). https://doi.org/10.1007/s13224-020-01383-9
- Chromosomal analysis
- Assisted reproductive technology
- Embryo biopsy
- Common indications