Selected Publications

NIPD Genetics has a very strong scientific publication track record in the field of non-invasive prenatal testing. Our scientists have published several original articles in prestigious peer-reviewed journals describing our innovative scientific work and cutting-edge technological advances. 

  • George Koumbaris, Elena Kypri, Kyriakos Tsangaras, Achilleas Achilleos, Petros Mina, Maria Neofytou, et al., and Philippos C Patsalis Cell-free DNA analysis of targeted genomic regions in maternal plasma for non-invasive prenatal testing of trisomy 21, trisomy 18, trisomy 13 and fetal gender. Clinical Chemistry 62:6, 848-855, 2016
  • Papageorgiou EA, Koumbaris G, Kypri E, Hadjidaniel M, Patsalis PC. The Epigenome View: An Effort towards Non-Invasive Prenatal Diagnosis. Genes. 2014 Apr 9;5(2):310-29.
  • Kyriakou S, Kypri E, Spyrou C, Tsaliki E, Velissariou V, Papageorgiou EA, Patsalis PC. Variability of ffDNA in maternal plasma does not prevent correct classification of trisomy 21 using MeDIP qPCR methodology. Prenatal Diagnosis 33(7):650-655, 2013.
  • Papageorgiou EA, Tsaliki E, Koumbaris G, Patsalis PC. Author’s response regarding “MeDIP-qPCR approach for non-invasive prenatal diagnosis of Down syndrome: accuracy and reproducibility”. Prenatal Diagnosis 2013 Apr;33(4):404-5
  • Patsalis PC. Technical concerns about immunoprecipitation of methylated fetal DNA for noninvasive trisomy 21 diagnosis. Nature Medicine 2012 Sep 7;18(9):1328-9.
  • Patsalis PC. A new method for non-invasive prenatal diagnosis of Down Syndrome using MeDIP real time qPCR. Applied & Translational Genomics 1 (2012) 3-8, 2012.
  • Tsaliki E, Papageorgiou EA, Spyrou C, Koumbaris G, Kypri E, Kyriakou S, Sotiriou C, Touvana E, Keravnou A, Karagrigoriou A, Lamnissou K, Velissariou V, Patsalis PC. MeDIP real-time qPCR of maternal peripheral blood reliably identifies trisomy 21. Prenatal Diagnosis 2012 Oct;32(10):996-1001
  • Papageorgiou EA, Patsalis PC. Non Invasive prenatal diagnosis of aneuploidies: new technologies and clinical applications. Genome Medicine. 2012 May 28;4(5):46..
  • Patsalis PC, Tsaliki E, Koumbaris G, Karagrigoriou A, Velissariou V, Papageorgiou EA. A new non-invasive prenatal diagnosis of Down syndrome through epigenetic markers and real-time qPCR. Expert Opin Biol Ther. 2012 Jun;12 Suppl 1:S155-61
  • Papageorgiou EA, Karagrigoriou A, Tsaliki E, Velissariou V, Carter NP, Patsalis PC. Fetal-specific DNA methylation ratio permits noninvasive prenatal diagnosis of trisomy 21. Nature Medicine 2011 Apr;17(4):510-3.

Selected Presentations

NIPD Genetics has also presented its pioneering work at several international conferences and workshops demonstrating its leadership in the field of non-invasive prenatal testing.

  • “When IVF meets NIPT: Another challenge to look at…”. Annual Meeting of the National Society of Obstetric and Gynecology, Tel Aviv, Israel. 8 March 2016, Invited Lecturer, Plennary Lecture.
  • “Multiplex Parallel Analysis of Targeted Genomic Regions for NIPT”. Molecular Diagnostic Europe, Lisbon, Portugal. 4-7 April 2016, Invited Lecturer, Plennary Lecture.
  • “The VERACITY Test. Advances in Fetal Medicine Course. Fetal Medicine Foundation, London, UK. 5-7 December 2015, Invited Lecturer.
  • “Development and Validation of the VERACITY Non Invasive Prenatal Test. Advances in Prenatal Diagnosis. Boston, USA. 16-19 November 2015, Invited Lecturer.
  • “Barriers and Drivers for the Implementation of Clinical Sequencing: An International Discussion Symposium”, American Society of Human Genetics Meeting, 6-10 October, 2015, Baltimore, USA. Invited Lecturer, Plenary Lecture.
  • “Development and Validation of VERACITY: a newly highly accurate and cost effective non-invasive prenatal test”, Advance course in Ultrasound and Fetal Medicine, 2-4 October 2015, Belfast, UK. Invited Lecturer, Plenary Lecture.
  • “Non Invasive Prenatal Diagnosis”, Lithuanian Academy of Science, Vilnious, Lithuania, 16 December 2014. Invited Lecturer, Plenary Lecture.
  • “Non Invasive Prenatal Diagnosis of Genetic Disorders”. Brain Train EU Conference, Riken Institute, Yokahama, Japan, 19 September 2013. Invited Lecturer, Plenary Lecture.
  • “Non Invasive Prenatal Diagnosis”. 11th World Congress in Fetal Medicine, Kos, Greece, 24-28 June 2012. Invited Lecturer, Plenary Lecture.
  • “Further development and larger validation of non-invasive prenatal diagnosis for trisomy 21 using MeDIP real time qPCR”. European Society of Human Genetics 2012, Nurnberg, Germany, 23-26 June 2012. Invited Lecturer.
  • “Non-Invasive Prenatal Diagnosis for Trisomy 21 using MeDIP real time qPCR”. 4th Slovene Medical Genetics Symposium – New technologies and approaches in medical genetic diagnostics, Ljubljana, Slovenia, 6 April 2012. Invited Lecturer, Plenary Lecture.
  • “Prenatal Diagnosis of Genetic Disorders: From Invasive to Non Invasive Prenatal Diagnosis”. International Down Syndrome Day, Hadassah Hospital, Jerusalem, Israel, 22 March 2012. Invited Lecturer, Plenary Lecture.
  • “Non-Invasive Prenatal Diagnosis of Down Syndrome”.  14th Conference of the Italian Society of Human Genetics (XIV SIGU), Milan, Italy, 13-16 Nov 2011. Invited Lecturer, Plenary Lecture.
  • “Non-Invasive Prenatal Diagnosis of Down Syndrome”. 7th International Conference on Circulating Nucleic Acids in Plasma and Serum (CNAPS VII), Madrid, Spain, 24-25 Oct 2011. Invited Lecturer, Plenary Lecture.
  • “Fetal-specific DNA methylation ratio permits non-invasive prenatal diagnosis of trisomy 21”. Cold Spring Harbor Laboratory: Personal Genomes, NY, USA, 30 Sept – 2 Oct 2011. Invited Lecturer.
  • “Development and Validation of Non-Invasive Prenatal Diagnosis for Trisomy 21”. 8th European Cytogenetics Conference, European Cytogenetic Association, Porto, Portugal, 2-5 July, 2011.  Invited Lecturer, Plenary Lecture.
  • “Diagnosis of Aneuploides: Epigenetic Approach – Fetal-Specific DNA Methylation Ration Permits Non-Invasive Prenatal Diagnosis of Trisomy 21”. 10th Fetal Medicine World Congress, Malta, 26-30 June 2011.  Invited Lecturer.
  • “Development and Validation of Non-Invasive Prenatal Diagnosis of Trisomy 21”. European Genetics Conference, European Society of Human Genetics, Amsterdam, Netherlands, 28-31 May, 2011.  Invited Lecturer, Plenary Lecture.

Selected Research Grants

NIPD Genetics has been awarded several competitive national and European research grants including the prestigious European Research Council grant, demonstrating its excellence in R&D.

  • EU, European Medical Council (ERC) Advanced Grant, European Union, Title: Proof of Concept study for ERC Non-Invasive Prenatal Diagnosis (NIPT) discovered biomarkers.
  • EU, European Medical Council (ERC) Advanced Grant, European Union, Title: A Novel Non-Invasive Prenatal Diagnosis of Genetic Disorders (NIPD).
  • Eurostars Program, European Union, Title: Development and validation of a non-invasive prenatal diagnostic (NIPD) kit for aneuploidy detection.
  • EU 7th Framework Programme (ICT), European Union, Title: A New Genetic Laboratory for non-invasive prenatal diagnosis (ANGELab)
  • 6th European Union Framework Program, European Union, Title: Special Non-Invasive Advances in Fetal and Neonatal Evaluation Network (SAFE).
  • Ministry of Commerce, Industry and Tourism, Cyprus, Title: Development of Non Invasive Prenatal Diagnosis Services.