Course details

FacultyHealth Sciences
Education level2nd / Post-graduate
Course codePMHRA009Trimester3
Course titlePreimplantation Genetic diagnosis
Independent teaching activitiesHours per weekECTS
CoursetypeGeneral knowledge, skill acquiring
Prerequisite coursesNone
Teaching and assessment languageEnglish
Course URLPreimplantation Genetic Diagnosis

Learning outcomes


Upon the completion of this module, the post-graduate students will possess the basic principles of human preimplantation development and preimplantation genetic diagnosis, and, on an everyday practice level, they  will be able to understand the rationale of the invasive and non-invasive methods of embryo selection and suggest diagnostic techniques and therapeutic approaches in cases in which preimplantation genetic diagnosis is applied.


The participants will possess:

  • The basic principles of Embryo Biopsy and Preimplantation Genetic Diagnosis for Chromosomal and Genetic Disorders
  • The basic principles of Non invasive and Invasive methods of embryo selection
  • The basic principles of Embryo Vitrification following biopsy and preimplantation genetic diagnosis

The participants will be able to:

  • Evaluate and select the optimal method of embryo selection, on the basis of patient indication and technique sensitivity and specificity
  • Evaluate and select the optimal biopsy (Cleavage or Blastocyst) and vitrification method (Open or Closed system) in preimplantation genetic diagnosis cases
  • Assess and solve complex genetic advisory problems
  • Search and process primary and secondary data from reliable sources
  • Validate and apply data to reach conclusions.


  • Introduction to Preimplantation Genetic Diagnosis (PGT-A and PGT-M)
  • The clinical significance of genomic recombinations
  • The Biopsied Embryo following Vitrification in open and closed systems
  • The wellbeing of children born following biopsy and vitrification
  • In Vitro Maturation and embryo quality (IVM)
  • Impact of sperm and egg quality on embryo development
  • Invasive and non-invasive methods of embryo selection
  • Embryo monitoring by Timelapse Technology
  • Preimplantation Genetic Diagnosis with HLA matching
  • Array- CGH vs NGS for PGT-A
  • PCR, Linkage Analysis and Karyomapping in PGD
  • Prenatal vs Preimplantation Genetic Diagnosis
  • Quality control in the IVF/ PGD Laboratory
  • Troubleshooting- Biopsy, tubing and genetic analysis

Teaching and learning methods – evaluation

Teaching methodsFace to face
Distance learning
Use of information and
communication technologies (ICT)

  • Use of information technology for teaching - Moodle Virtual learning environment (VLE) (asynchronous learning)

  • Use of information technology for clinical training - Moodle Virtual learning environment (VLE) (asynchronous learning, wikis, Online Discussion Fora, Educational Portfolio)
  • Use of information technology for the communication with the post-graduate students (e-mail, direct messages through Moodle)
Module structureWork Hours per SemesterActivity
Lectures 40
Exercises (Quiz) 10
Exercises (Online discussion fora) 25
Exercises (Study relevant papers) 20
Final assignment30
Overall work for the course125
Assessment Methods
  • Final assignment, in English, up to 2,500 words, that will be submitted after the completion of the module

  • Knowledge evaluation during the beginning and the end of the module through short-answer questions and short assays

  • Multiple-choice questions on a weekly basis

  • Evaluation of the fora participation for each post-graduate student during the online weeks

Recommended Bibliography

Chatzimeletiou K, Vanderzwalmen P, Panagiotidis Y, Papatheodorou A, Karagiannidis A, Kolibianakis E, Grimbizis G, Prapas N, Prapas Y, Tarlatzis BC. Spindle and chromosome configuration analysis of human biopsied versus non-biopsied embryos by confocal laser scanning microscopy following vitrification. Zygote. 2019 Jun;27(3):153-159.

McCoy RC, Newnham LJ, Ottolini CS, Hoffmann ER, Chatzimeletiou K, Cornejo OE, Zhan Q, Zaninovic N, Rosenwaks Z, Petrov DA, Demko ZP, Sigurjonsson S, Handyside AH. Tripolar chromosome segregation drives the association between maternal genotype at variants spanning PLK4 and aneuploidy in human preimplantation embryos. Hum Mol Genet. 2018 15;27(14):2573-2585.

Chatzimeletiou K, Morrison E.E, Vanderzwalmen P, Panagiotidis Y, Prapas N, Prapas Y,  Tarlatzis B.K, Handyside A.H (2012) Cytoskeletal analysis of human blastocysts by confocal laser scanning microscopy following vitrification. Human Reproduction 27(1): 106- 113.

Chatzimeletiou K, Sioga A, Oikonomou L, Charalampidou S, Kantartzi PD, Zournatzi V, Panidis D, Goulis DG, Papadimas I, Tarltazis BC (2011) Semen analysis by electron and fluorescence microscopy in a case of partial hydatidiform mole reveals a high incidence of abnormal morphology, diploidy and tetraploidy. Fertility and Sterility  95(7):2430.e1-5.

Chatzimeletiou K, Rutherford A.J, Griffin D.Κ, Handyside A.H (2007) Is the sperm centrosome to blame for the complex polyploid chromosome patterns observed  in cleavage stage embryos from an OAT patient? Zygote 15, 81-90

Chatzimeletiou K, Taylor J, Marks K, Grudzinskas J.G, Handyside A.H (2006) Paternal inheritance of 16qh- polymorphism in a patient with repeated IVF failure: a case report. Reproductive Biomedicine Online 13(6), 864-868.

Chatzimeletiou K, Morrison E.E, Panagiotidis Y, Prapas N, Prapas Y, Rutherford A.J, Grudzinskas G, Handyside A.H (2005 a) Comparison of effects of zona drilling by non contact infrared laser or acid Tyrode’s on the development of human biopsied embryos as revealed by blastomere viability, cytoskeletal analysis and molecular cytogenetics. Reproductive Biomedicine Online 11 (6), 697- 710.

Chatzimeletiou K, Morrison E.E, Prapas N, Prapas Y, Handyside A.H (2005 b) Spindle abnormalities in normally developing and arrested human preimplantation embryos in vitro identified by confocal laser scanning microscopy. Human Reproduction 20 (3), 672-682.

Coello A, Meseguer M, Galán A, Alegre L, Remohí J, Cobo A. (2017)Analysis of the morphological dynamics of blastocysts after vitrification/warming: defining new predictive variables of implantation. Fertil Steril. . pii: S0015-0282(17)31683-7.

Fiorentino F, Bono S, Biricik A, Nuccitelli A, Cotroneo E, Cottone G, Kokocinski F, Michel CE, Minasi MG, Greco E. (2014) Application of next-generation sequencing technology for comprehensive aneuploidy screening of blastocysts in clinical preimplantation genetic screening cycles. Hum Reprod. 29(12):2802-13

Handyside AH. Noninvasive preimplantation genetic testing: dream or reality? (2016) Fertil Steril.106(6):1324-1325.

Handyside AH. (2015)Live births following karyomapping – a “key” milestone in the development of preimplantation genetic diagnosis. Reprod Biomed Online. 31(3):307-8.

Minasi MG, Fiorentino F, Ruberti A, Biricik A, Cursio E, Cotroneo E, Varricchio MT, Surdo M, Spinella F, Greco E. (2017) Genetic diseases and aneuploidies can be detected with a single blastocyst biopsy: a successful clinical approach. Hum Reprod. 1;32(8):1770-1777

Natesan SA, Handyside AH, Thornhill AR, Ottolini CS, Sage K, Summers MC, Konstantinidis M, Wells D, Griffin DK. (2014)Live birth after PGD with confirmation by a comprehensive approach (karyomapping) for simultaneous detection of monogenic and chromosomal disorders. Reprod Biomed Online. 29(5):600-5.

Rubio C, Bellver J, Rodrigo L, Castillón G, Guillén A, Vidal C, Giles J, Ferrando M, Cabanillas S, Remohí J, Pellicer A, Simón C, (2017) In vitro fertilization with preimplantation genetic diagnosis for aneuploidies in advanced maternal age: a randomized, controlled study.Fertil Steril. 107(5):1122-1129

Rubio C, Rodrigo L, Mir P, Mateu E, Peinado V, Milán M, Al-Asmar N, Campos-Galindo I, Garcia S, Simón C. (2013) Use of array comparative genomic hybridization (array-CGH) for embryo assessment: clinical results.

Fertil Steril.  15;99(4):1044-8

Yang Z, Liu J, Collins GS, Salem SA, Liu X, Lyle SS, Peck AC, Sills ES, Salem RD. (2012) 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.  2;5(1):24

Youm HS, Choi JR, Oh D, Rho YH.(2017)Closed versus open vitrification for human blastocyst cryopreservation: A meta-analysis.Cryobiology.;77:64-70.



Aikaterini Chatzimeletiou