PGD Team

PGD Team

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Publications since 2001


Xanthopoulou L., Ghevaria H., Mantzouratou A., Serhal P., Doshi A., Delhanty JDA. Chromosome breakage in human preimplantation embryos from carriers of structural chromosomal abnormalities in relation to fragile sites, maternal age and poor sperm factors.  Cytogenetics and Genome Res 136: 21-29. (2012)

Delhanty Joy DA. (2012). The reproductive challenge.  Public Service Review: Science & Technology: Issue 5. page 140.

Delhanty Joy DA. (2012). Chaotic human embryo development.  Public Service Review: Science & Technology: Issue 5. page 141.

SenGupta SB, Vadaparampil ST, Menon U. Preimplantation genetic diagnosis for
hereditary cancers. Adv Exp Med Biol. 2012;732:103-13. PubMed PMID: 22210255

Mamas T, Gordon A, Brown A, Harper J, Sengupta S. Detection of aneuploidy by array comparative genomic hybridization using cell lines to mimic a mosaic trophectoderm biopsy. Fertil Steril. 2012 Jan 24. [Epub ahead of print] PubMed PMID: 22277764.

Harper JC, Wilton L, Traeger-Synodinos J, Goossens V, Moutou C, Sengupta SB, Pehlivan Budak T, Renwick P, De Rycke M, Geraedts JP, Harton G. The ESHRE PGD Consortium: 10 years of data collection. Hum Reprod Update. 2012 Feb 16. [Epub ahead of print] PubMed PMID: 22343781

SenGupta SB, Delhanty JD. Preimplantation genetic diagnosis: recent triumphs
and remaining challenges. Expert Rev Mol Diagn. 2012 Jul;12(6):585-592. PubMed
PMID: 22845479.

Kakourou G, Jaroudi S, Tulay P, Heath C, Serhal P, Harper JC, Sengupta SB. Investigation of gene expression profiles before and after embryonic genome activation and assessment of functional pathways at the human metaphase II oocyte and blastocyst stage. Fertil Steril. 2012 Nov 10. doi:pii: S0015-0282(12)02348-5. 10.1016/j.fertnstert.2012.10.036. [Epub ahead of print] PubMed PMID: 23148922.

Deans Z, Fiorentino F, Biricik A, Traeger-Synodinos J, Moutou C, De Rycke M, Renwick P, Sengupta S, Goossens V, Harton G. The experience of 3 years of external quality assessment of preimplantation genetic diagnosis for cystic fibrosis. Eur J Hum Genet. 2012 Nov 14. doi: 10.1038/ejhg.2012.244. [Epub ahead of print] PubMed PMID: 23150080.


L. Xanthopoulou, J.D.A. Delhanty, A. Mania, T. Mamas, P. Serhal, S.B. SenGupta and A. Mantzouratou.  The nature and origin of binucleate cells in human preimplantation embryos: relevance to placental mesenchymal dysplasia. Reproductive Biomedicine online. 22: 362-370 (2011).

Mantzouratou M, Delhanty JDA. Aneuploidy in the human cleavage stage embryo.  Cytogenet  Genome Res 133: 141-148 (2011).

Delhanty JDA. Inherited Aneuploidy: Germline mosaicism. Cytogenet Genome Res 133:136-140 (2011).

Fragouli E, Wells D, Delhanty JDA. Chromosome abnormalities in the human oocyte. Cytogenet Genome Res 133:107-118 (2011).

Xanthopoulou L, Mantzouratou A, Mania A, Ghevaria H, Ghebo C, Serhal P, Delhanty JDA. When is old too old for preimplantation genetic diagnosis for reciprocal translocations?  Prenat. Diagn.  31: 1002-1006. (2011).

Delhanty JDA. Is the polar body approach best for preimplantation genetic screening?
Placenta 32 S268-S270 (2011) Online 25.07.11


Joyce Harper, Edith Coonen , Martine De Rycke, , Francesco Fiorentino, Joep Geraedts, Veerle Goossens, Gary Harton, Celine Moutou, Tugce Pehlivan, Pam Renwick, Sioban SenGupta, Joanne Traeger-Synodinos, Katerina Vesela (2009) What next for PGS? A position statement from the PGD Consortium steering committee. Human Reproduction, in press


JC Harper, D Hill, S Repping (2009) Current controversies in Prenatal Diagnosis 1: Is aneuploidy testing by PGD indicated for all infertile patients undergoing IVF? Prenatal Diagnosis, 29.

Wilton, L, Thornhill, A, Traeger-Synodinos, J, Sermon, KD, Harper, JC (2009) The causes of misdiagnosis and adverse outcomes in PGD, Human Reproduction, doi: 10.1093/humrep/den488

V. Goossens, G. Harton, C. Moutou, J. Traeger-Synodinos, M. Van Rij, and J.C. Harper (2009) ESHRE PGD Consortium data collection IX: cycles from January to December 2006 with pregnancy follow-up to October 2007 Human Reproduction, doi:10.1093/humrep/dep059

What next for preimplantation genetic screening? A polar body approach!
Joep Geraedts; John Collins; Luca Gianaroli; Veerle Goossens; Alan Handyside; Joyce Harper; Markus Montag; Sjoerd Repping; Andreas Schmutzler. Human Reproduction 2009; doi: 10.1093/humrep/dep446

Souraya Jaroudi, Georgia Kakourou, Suzanne Cawood, Alpesh Doshi, Domenico M Ranieri, Paul Serhal, Joyce C. Harper and Sioban B. SenGupta (2009) Expression profiling of DNA repair genes in human oocytes and blastocysts using microarrays

Glentis, S, SenGupt, S, Thornhill, A, Wang, R, Craft, I, Harper, JC (2009) Molecular comparison of single cell MDA products derived from different cell types, RBM Online in press

Harper, JC, SenGupta, S, Vesela, K, Thornhill, A, Dequeker. E, Coonen, E, Morris. MA (2009) Accreditation of the PGD laboratory, Human Reproduction (in press)


Harper, JC, de Die-Smulders, C, Goossens, V, Harton, G., Moutou, C., Repping, S., Scriven, P.N, SenGupta, S.,Traeger-Synodinos, J., Van Rij, MC, Viville, S., Wilton, L., Sermon, K.D. (2008) ESHRE PGD Consortium data collection VII: Cycles from January to December 2004 with pregnancy follow-up to October 2005. Human Reproduction, Apr;23(4):741-55

Harper, JC, Sermon, K, Geraedts, J, Vesela, K, Harton, G, Thornhill, A, Pehlivan, T, Fiorentino, F, SenGupta, S, de Die-Smulders, C, Magli, C, Moutou, C, Wilton, L (2008) What next for Preimplantation Genetic Screening (PGS)? Human Reproduction, 23(3):478-80

Daphnis DD, Fragouli E, Economou K, Jerkovic S, Craft IL, Delhanty JD, Harper JC. (2008) Analysis of the evolution of chromosome abnormalities in human embryos from Day 3 to 5 using CGH and FISH. Mol Hum Reprod. 14(2):117-25.

Goossens, V, Harton, G, Moutou, C, Scriven, PN, Traeger-Synodinos. J, Sermon, K, Harper, JC (2008) ESHRE PGD Consortium data collection VIII: Cycles from January to December 2005 with pregnancy follow-up to October 2006, Human Reproduction, 23(12):2629-45.


Sermon, K.D, Michiels, A, Harton, G, Moutou, C, Repping, S, Scriven, P.N, SenGupta, S,Traeger-Synodinos, J, Vesela, K, Viville, S, Wilton, L, Harper, J.C (2007) ESHRE PGD Consortium data collection VI: Cycles from January to December 2003 with pregnancy follow-up to October 2004, Hum Reprod. 22(2):323-36

Kakourou, G, Dhanjal, S, Daphnis, D, Doshi, A, Nuttall, S, Gotts, S, Serhal, P, Delhanty, J, Harper, JC, and SenGupta, S (2007) Preimplantation genetic diagnosis for myotonic dystrophy type 1: detection of cross-over between the gene and the linked marker APOC2. Prenatal Diagnosis, 27(2):111-116

Dhanjal, S, Kakourou, G, Mamas, T, Saleh, ,N, Doshi, A, Gotts, S, Nuttall, S, Fordham, K, Serhal, P, Delhanty, J, Harper, JC and SenGupta, S (2007) Preimplantation Genetic Diagnosis for Retinoblastoma predisposition, British Journal of Ophthalmology, in press.

Fletcher, , JM, Ferrier, PM, Gardner, JO, Harkness, L, Dhanjal, S, Serhal, P, Harper, JC, Delhanty, J, Brownstein, DG, Prasad, YR, Lebkowski, J, Mandalam,R, Wilmut,I, De Sousa. PA (2006) Variations in humanised and defined culture conditions supporting derivation of new human embryonic stem cell lines. Cloning and stem cells, 8(4):319-34

Jaroudi S, and SenGupta, S (2007) DNA repair in mammalian embryos, Reviews in Mutation Research, 653(1):53-77

Usha Menon Joyce Harper, Aarti Sharma, Lindsay Fraser, Matthew Burnell, Karim ElMasry, Charles Rodeck, Ian J Jacobs (2007) Preimplantation genetic diagnosis for Hereditary Breast Ovarian Cancer: what do BRCA1 and 2 gene carriers think? Human Reproduction, 22(6):1573-7


Lawes DA, Pearson T, SenGupta S and Boulos PB. Is MSI-H of value in predicting the development of metachronous cancer? European Journal of Cancer. 2006 Mar;42(4):473-6

Harper, J.C, Boelaert, K, Geraedts, J., Harton, G., Kearns, WG, Moutou, C., Muntjewerff, N., Repping, S, SenGupta, S, Scriven, P.N., Traeger-Synodinos, J, Vesela, K, Wilton, L, Sermon, K.D. (2006) ESHRE PGD Consortium data collection V: Cycles from January to December 2002 with pregnancy follow-up to October 2003, Human Reproduction, 21, 3-21

Fragouli, E, Wells, D, Doshi, A, Gotts, S, Harper, JC, Delhanty , JDA (2006). Complete cytogenetic investigation of oocytes from a cancer patient with the use of comparative genomic hybridisation reveals meiotic errors. Prenat Diagn, 26, 71-7

Soini S, Ibarreta D, Anastasiadou V, Ayme S, Braga S, Cornel M, Coviello DA, Evers-Kiebooms G, Geraedts J, Gianaroli L, Harper J, Kosztolanyi G, Lundin K, Rodrigues-Cerezo E, Sermon K, Sequeiros J, Tranebjaerg L, Kaariainen H., (2006) The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues. European Journal Human Genetics, 14, 588-645

Recommendations of the ESHG and ESHRE, The need for interaction between assisted reproduction technology and genetics. (2006) Eur. J. Hum. Genet, 14, 509-511

What are the issues surrounding preimplantation diagnosis for late-onset disorders? (Invited Editorial) (2006) Expert Review of Molecular Diagnostics 6: 5-6. Joy Delhanty

Increased susceptibility to maternal aneuploidy demonstrated by comparative genomic hybridization analysis of human MII oocytes and first polar bodies. (2006) Cytogenet Genome Res 114: 30-38 E Fragouli, D Wells, KM Whalley, JA Mills, MJW Faed, JDA Delhanty

Molecular cytogenetics in obstetric practice. (2006) The Obstetrician & Gynaecologist 8: 171-176 JDA Delhanty

Cytogenetics of Human preimplantation embryos JDA Delhanty & D Wells

In: Cytogenetics in Reproductive Medicine Ed. Dagan Wells Eurekah.com (2006)

Human Cytogenetics JDA Delhanty In: Embryos, Genes and Birth Defects Eds. Patrizia Ferretti, Andrew Copp, Cheryl Tickle & Gudrun Moore.Wiley (2006)


Daphnis, D, Jerkovic, S, Geyer, J, Craft, I, Delhanty,, JDA, Harper, JC (2005) Detailed FISH analysis of day 5 human embryos reveals the mechanisms leading to mosaic aneuploidy, Human Reproduction, 20, 129-137

Sermon, K., Moutou, C., Harper, J., Geraedts, J., Scriven, P., Wilton, L., Magli, M.-C., Michiels A, Viville, S., De Die, C. (2005) ESHRE PGD Consortium data collection IV: May-December 2001, Human Reproduction, 20(1):19-34.

Thornhill , AR, deDie-Smulders, CE, Geraedts, JP, Harper, JC, Harton, GL, Lavery, SA, Moutou, C, Robinson, MD, Schmutzler, AG, Scriven, PN, Sermon, KD, Wilton, L (2005) ESHRE PGD Consortium Best Practice Guidelines for Clinical Preimplantation Genetic Diagnosis (PGD) and Preimplantation Genetic screening (PGS), Human Reproduction, 20 (1):35-48.

Expression of genes regulating chromosome segregation, the cell cycle and apoptosis during human preimplantation development. (2005) Hum Reprod 20:1339-1348 Wells D, Bermudez MG, Steuerwald N, Thornhill AR, Malter H, Delhanty JDA, Cohen J.

Mechanisms of aneuploidy induction in human oogenesis and early embryogenesis. (2005) (Single topic issue on Cytogenetics of Human Germ Cells. Ed: RH Martin). Cytogenetics and Genome Research 111: 237-244. Delhanty JDA.

Lawes DA, Pearson T, SenGupta S and Boulos PB. The role of MLH1, MSH2 and MSH6 in the development of multiple colorectal cancers. British Journal of Cancer, 2005;93(4), 472-477


Harper, JC, Pergament, E, Delhanty, JDA (2004) Genetics of gametes and embryos. EuropeanJournal of Obstetrics & Gynaecology and Reproductive Biology, 115, S80-S84

Harper, JC and Delhanty, JDA (2004) Clinical aspects of Preimplantation Genetic Diagnosis, In Good clinical practice in assisted conception. Publisher Cambridge University Press, Editors, Serhal and Overton (in press)


Lawes DA, SenGupta SB, Boulos PB.The clinical importance and prognostic implications of microsatellite instability in sporadic cancers. European Journal of Surgical Oncology, 2003; 29(3): 201-212

Cytogenetic and Y chromosome microdeletion screening of a random group of infertile males (2003) Fertility and Sterility 79 (2) 301-307.CR Quilter, EC Svennevik, P Serhal, D Ralph, G Bahadur, R Stanhope, M Sütterlin, JDA Delhanty, KE Taylor.

Laboratory preimplantation genetic diagnosis (2003) The Lancet 361; 1480 JDA Delhanty

Sequential FISH analysis of oocytes and polar bodies reveals aneuploidy mechanisms. (2003) Prenatal Diagnosis 23 (8) 663-668 S Cupisti, C M

Conn, E Fragouli, K Whalley, J A Mills, M J W Faed, JDA Delhanty.

Piyamongkol, W, Bermudez, WG, Harper, JC, Wells, D (2003) Detailed investigation of factors influencing amplification efficiency and allele dropout in single cell PCR: implications for preimplantation genetic diagnosis, Molecular Human Reproduction, 9, 411-420

Harper, JC and Doshi, A (2003) Micromanipulation: Biopsy In Laboratory guide to the mammalian embryo, Editors Gardner, Lane and Watson, Published by Oxford University Press

Simopoulou, M, Harper, JC, Fragouli, E, Mantzouratou, A, Speyer, BE, Serhal, P, Ranieri, DM, Doshi, A, Henderson, J, Rodeck CH, and Delhanty, JDA(2003) Preimplantation Genetic Diagnosis of Chromosome Abnormalities: Implications from the Outcome for Couples with Chromosomal Rearrangements. Prenatal Diagnosis, 652-662


Abou-Sleiman P.M., Apessos A., Harper J.C., Serhal P. and Delhanty J.D.A (2002) Pregnancy Following Preimplantation Genetic Diagnosis for Crouzon Syndrome. Molecular Human Reproduction, 8, 101-104

ESHRE PGD Consortium Steering Committee (2002) ESHRE Preimplantation Genetic Diagnosis (PGD) Consortium: data collection III (May 2001), Hum Reprod., 17, 233-246.

Harper JC and Rodeck, C (2002) Preimplantation Genetic Diagnosis, Progress in Obstetrics and Gynaecology, Volume 15, 33-43

Delhanty, JDA and Harper, JC (2002) Preimplantation Genetic Diagnosis, Reproductive Medicine Review, 10 (1), 1-19

Harper, JC and Bui, TH (2002) Preimplantation Genetic Diagnosis, For Baillière’s – Best Practice and Research in Obstetrics and Gynaecology, volume 16, (5) Edited by Mark Evans and The-Hung Bui, Tindall London

Bui, TH and Harper, JC (2002) Preimplantation Genetic Diagnosis, Clinical Obstetrics and Gynaecology, 45 (3) 1-9

Harper JC, Wells, D, Piyamongkol, W, Abou Sleiman, P, Apessos, A, Ioulianis, A, Davis, M, Doshi, A, Serhal, P, Ranieri, M, Rodeck, C and Delhanty, JDA (2002) PGD for Single Gene Disorders: Experience with five single gene disorders; Prenatal Diagnosis 22, 1-9

Abou-Sleiman P.M., Apessos A., Harper J.C., Serhal P., Winston R. M. L. and Delhanty J.D.A. (2002) First application of preimplantation genetic diagnosis to Neurofibromatosis type 2 (NF2), Prenatal Diagnosis 22, 519-524

Preimplantation genetic diagnosis: an alternative to prenatal diagnosis (invited editorial) (2002) Expert Rev Mol Diag 2(5): 395-399 JDA Delhanty and D Wells

A novel, de novo germline TP53 mutation in a rare presentation of the Li-Fraumeni syndrome in the maxilla (2002) Oral Oncology 38: 383-390.A Patrikidou, J Bennett, P Abou-Sleiman, JDA Delhanty, M Harris.

A comparative study between infertile males and patients with Turner syndrome to determine the influence of sex chromosome mosaicism and the breakpoints of structurally abnormal Y chromosomes on phenotypic sex. (2002) J Med Genet 39: e80 CR Quilter, N Nathwani, GS Conway, R Stanhope, D Ralph , G Bahadur, P Serhal , K Taylor, JDA Delhanty

First clinical application of comparative genomic hybridization and polar body testing for preimplantation genetic diagnosis of aneuploidy (2002) Fertility and Sterility 78 (3) : 543-49 D Wells, T Escudero, B Levy, K Hirschhorn, JDA Delhanty S Munné

Lawes DA, SenGupta SB, Boulos PB. Pathogenesis and clinical management of hereditary non-polyposis colorectal cancer. British Journal of Surgery, 2002; 89: 1357-1369


Piyamongkol, W, Harper, JC, Sherlock, JK, Doshi, A, Serhal, PF, Delhanty, JDA, Wells, D (2001) A Successful Strategy for Preimplantation Genetic Diagnosis of Myotonic Dystrophy using Multiplex Fluorescent PCR. Prenatal Diagnosis 21, 223-232.

Piyamongkol, W., Harper, J.C., Delhanty, J.D.A. Wells, D. (2001) Preimplantation genetic diagnostic protocols for alpha- and beta-thalassaemia using multiplex fluorescent PCR. Prenatal Diagnosis 21, 753-759.

Piyamongkol, W., Harper, J.C., Delhanty, J.D.A., Wells, D. (2001) PGD protocols using multiplex fluorescent PCR: beta-thalassaemia SEA mutation and myotonic dystrophy. Reproductive BioMedicine Online 2, 212-214.

Preimplantation genetic diagnosis: applications for molecular medicine (2001) Trends in Molecular Medicine 7, 23-30 Dagan Wells & Joy D A Delhanty

Aneuploidy screening in direct chorionic villus amples by fluorescent in situ hybridisation: the use of commercial probes in a diagnostic setting. (2001) British Journal of Obstetrics and Gynaecology 108, 215-218 Claire R Quilter, Samantha Holman, Raiham M Y A Al-Hammadi, Danae Theodorides, Rosalind J Hastings, Joy D A Delhanty

Genetic alterations in gastric cancers from British patients. (2001) Cancer Genet. Cytogenet.126, 111-119. Richa Sud, Dagan Wells, Ian C Talbot, Joy D A Delhanty

Preimplantation genetics: an explanation for poor human fertility? (2001) Ann Hum Genet 65, 331-338 J D A Delhanty

Geraedts, JPM, Harper, JC, Braude, P, Sermon, K, Veiga, A, Gianaroli, L, Agan, N, Munné, S, Gitlin, S, Blenow, E, de Boer, K, Hussey, N, Kanavakis, E, Lee, S-H, Viville, S, Krey, L, Ray, P, Emiliani, S, Liu, YH, Vermeulen, S (2001) Preimplantation Genetic Diagnosis (PGD), a collaborative activity of clinical genetic departments and IVF centres. Prenatal Diagnosis, 21: 1086-1092

Apessos A., Abou-Sleiman P.M., Harper J.C. and Delhanty J.D.A. (2001) Preimplantation genetic diagnosis of the fragile X syndrome by use of linked polymorphic markers. Prenatal Diagnosis, 21, 504-511.

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