Article submitted to Global Updates, July 2019

Update on current activities of the Laboratory Techniques SIG

  1. As announced during the SIG meeting in Antwerp last year, the co-chairs of the Laboratory Techniques SIG, its board liaison Dr. Francesca Grati and Dr. Sandi Deans of GenQA, currently are collaborating with Prof. Brynn Levy of Columbia University Medical Center, on a survey that he has initiated on the reporting practices of Constitutional Chromosomal Microarray analysis (CMA) data. International criteria for analyzing and reporting CMA data are absent which means that a patient may receive a different clinical report depending on which laboratory performed the test. The variation in reporting practices is the consequence of the use of different array platforms, size cut-offs and probe thresholds. Moreover, some labs may choose not to report specific CNVs (e.g., CNVs associated with phenotypic heterogeneity and variable expressivity) or choose to only report such CNVs in a particular constitutional setting (e.g. Prenatal versus Postnatal). The goal is to assess global CMA reporting practices of clinical cytogenetic laboratories offering constitutional CMA testing on three types of clinical samples (prenatal, postnatal and products of conception) and to determine whether there is consensus for specific CNVs. Ultimately, the results of the survey may be used for generating international guidelines for prenatal CMA reporting.

  3. We are organizing an exciting SIG meeting during ISPD 2019 in Singapore. This year it will be a breakfast- instead of lunch-meeting! So make sure you get up on time and join us!
    1. We hope that Dr. Sandi Deans is willing again to provide us with new developments and future plans of GenQA.
    2. Furthermore, we want to discuss, in an informal setting, technical issues related to the implementation of whole exome sequencing (WES) in prenatal diagnosis, including referral indications and analysis pipelines.
    3. We also like to give you, as members of our SIG, the opportunity to discuss with colleagues from all over the world labtechnical or interpretation issues that you encounter in daily practice, or to share special cases that may be of educational interest for the attendees of the meeting. If you have something, please let us know by e-mail ( and before 23 August. Depending on the number of proposals that we receive, we will make a selection and add it to the agenda.

  5. Finally, we would like to draw your attention to the paper of Chan et al. (2019), “Impact of preimplantation genetic testing for aneuploidy on obstetrical practice” in Curr Opin Obstet Gynecol, 31(2): 127-131. It focuses on the implications of preimplantation genetic testing for aneuploidy on prenatal diagnostic approaches after transferal of mosaic aneuploid embryos. Liona Poon, one of the article authors, has written a summary of their report specifically for ISPD. Read the summary of the paper.