International Quality Control in Preimplantation Genetic Diagnosis

International Quality Control in Preimplantation Genetic Diagnosis

Since 2013, a new tool in molecular biology – Next Generation Sequencing (NGS) – has been used for preimplantation genetic diagnosis. This technology is used to determine, e.g. chromosomal aneuploidy– PGS NGS, presence of unbalanced products of translocation – PGD TRS, presence of changes responsible for single-gene disorders – PGD ONE. These tests are used in the IVF treatment. However, as this new technology has only been used for a short time, it is difficult to assess whether a laboratory performing such tests meets necessary quality standards. Such information is expected by patients, physicians and owners of IVF clinics.

There has been a lot of dynamic development in the use of genetic testing in reproductive medicine. The latest technologies, such as NGS, are also find their use in preimplantation genetic diagnosis. Programmes of External Quality Assessment (EQA) are one of the objective and reliable methods to assess laboratory performance. EQAs are organised by recognised and reliable institutions with appropriate certificates, specialising in a given diagnostic field. There are national and international assessment programmes. For Next Generation Sequencing, the DNA Sequencing – NextGen programme has been organized by EMQN (European Molecular Genetics Quality Network) since 2014.


A laboratory participating in the assessment receives a sample with genetic material that has to be sequenced using a routine procedure with the NGS technique that has been selected by a participant. After the analysis and after NGS sequencing, test participants are obliged to send results through a special dedicated data transfer portal to the organizers. Then, all data are assessed and appropriate quality indices for each sample are calculated and analysed. Information regarding the scope of assessment and results of a bioinformation analysis are published by organizers in a collective report. Additionally, each participant receives an individual report along with comments and guidelines that may help improve the NGS sequencing process in a given laboratory.

Just as previously also in the last edition of this programme, INVICTA Genetic Laboratories have achieved the maximum possible score.


Another programme dedicated to Preimplantation Genetic Diagnosis is organized by UK NEQAS (United Kingdom National External Quality Assessment Service) and CEQAS (Cytogenetic External Quality Assessment Service).


There is a PGS and, starting this year, also TRS programme. 10 centres which declared using the NGS technology applied for the PGS programme. Material from 3 embryos was analysed as part of the test. Each laboratory was allowed to decide what type of material they wanted to analyse: blastomere or trophectoderm cells from a blastocyst.

Analysis of the programme results showed that there had been errors when testing aneuploidy with the aCGH technique for 2 out of 3 tested embryos. There were no errors when the NGS technique had been used.

The INVICTA Genetic Laboratory obtained a maximum score for the category of test correctness and results interpretation.


Objective and reliable tools to assess the performance quality of Genetic Laboratories such as external assessments performed by international centres are available in the field of Preimplantation Genetic Diagnosis. They are an excellent source of information regarding the quality of tests for all those who would like to benefit from them. This group includes patients, physicians and clinic ownersand. For patients, the high quality of Preimplantation Genetic Diagnosis indicates a possibility to have healthy offspring.

Sebastian Pukszta, Ph.D.
Sebastian Pukszta, Ph.D.
Deputy Manager of the INVICTA Laboratory in charge of the Molecular Biology Lab. He holds a Ph.d. in Biology and is an author of numerous publications and member of the INVICTA’s scientific team. His interests include new methods of laboratory diagnostics, in particular in the field of molecular biology.