As technology of Preimplantation Genetic Testing has now becoming more established, it raises new aspect of potential and issues that will be discussed in our current webinar. PGT-M, as one of the pre implantation technology to identify unaffected embryos in monogenenic diseases, has opened the opportunity to affected parents to improve perinatal and genetic transmission to the offsprings. The incidence of Thallasemia amongst Asians and Cystic Fibrosis in Caucasian population is where of the role of PGT-M will be important. We will try to bring wide aspect of medical, laboratory and ethical aspect to our discussion.

And as PGT-A is becoming more acceptable to be adopted to clinical practice in IVF centers, concern over approach to mosaic embryos will be a hot topic discuss in this field. Debates over short term, medium- and long-term risk to offsprings will be quite challenging. Will mosaic embryos be regarded as acceptable for transfer is yet to be agreed.

Two distinguished speakers will be providing us with their expertise in our webinar session. Professoer Junhao Yan, Shandong, China will present the topic of Pitfalls in PGT-M and Dr Fransesca Spinella, Rome, Italy will share her lecture in transfer of Mosaic embryos – ESHRE Framework.

We look forward to you joining us and the warm discussion.

Watch the lecture recordings below and take advantage of your opportunity to ask questions about this exciting area of reproductive medicine. Questions will be addressed at the live forum session taking place on Saturday, 14 November 2020 at 3pm GMT (+8).

Lecture 1: Pitfalls in PGT-M

Speaker: Professor Junhao Yan (Shandong, China) [click to view speaker’s bio]

The field of preimplantation genetic testing (PGT) is evolving fast. It is essential for regulation and standardization of diagnostic testing in PGT. Preimplantation genetics testing of monogenic disorders (PGT-M) has significant effect and meaning in detecting single-gene diseases, but the application of PGT-M still has certain limitations and deficiencies in some cases. There are some factors that restrict the clinical application of PGT-M, such as small families, expand carrier screening, small number of embryos, allele drop-out (ADO), parental mosaicism and so on. It is important to discusses how to the collect DNA samples, establish haplotypes, determine genetic markers and assessment of the risk of positive embryos implantation in above. For example, whether the pathogenic variants themselves are incorporated in the clinical test depends on multiple factors, including the mutant source (familial or de novo), the variant type and the preclinical work-up results. In addition, there are some detailed technical recommendations for the most applied methods. Providing better genetic counseling to couples with single-gene diseases. It can help them make better reproductive choices. In short, we should focus on the pitfalls of PGT-M application, which will promote PGT-M to have broader application prospects.

Have questions pertaining to this lecture? Leave your questions in the comment box below or send them to Questions collected will be addressed at the live forum session happening on Saturday, 14 November 2020 at 3pm (GMT+8).

Lecture 2: Transfer of Mosaic Embryos – ESHRE Framework

Speaker: Dr Francesca Spinella (Rome, Italy) [click to view speaker’s bio]

Embryonic mosaicism is a phenomenon characterized by the presence of karyotypically different cell lines within the same embryo. It is relatively common in human preimplantation embryos and may occur with regard to numerical aberrations and/or structural aneuploidy.
Until recently, mosaic embryos were not transferred because they were considered abnormal. However, recent studies demonstrate that mosaic embryos hold the potential to implant, and result in the birth of healthy babies. Therefore, the transfer of these embryos is now offered as an option for those patients with no euploid embryos available in some clinics.

Due to the limited available data on pregnancy outcome (no more than 300 mosaic embryos have been reported in a single study) and unknown potential risks associated with mosaic embryo some argue that mosaicism should not yet be reported or that embryos classified as mosaic should not be transferred. Recently criticism has been raised about mosaic embryos.

These doubts can only be addressed with larger data-sets than currently published. Here we conducted a multicentric prospective study involving assessment of embryos obtained from 2.685 PGT cycles collected from May 2016-January 2020. We analyzed the outcomes of 1000 mosaic embryos and compared their outcome with that obtained from the transfer of euploid embryos. We also analyzed the outcomes of the different types of mosaic embryos.

The results of this study indicate that mosaic embryos miscarry more often and implant less often than euploid embryos, but that approximately 30% of them can still result in a viable pregnancy. No difference in the clinical outcome between monosomic and trisomic mosaics was reported, but mosaic blastocysts carrying multiple chromosome abnormalities (complex mosaic) had the lowest viability among the mosaic embryos. Complex and single segmental mosaics fared better than all other types.

The study provides the largest dataset of transferred mosaic embryo outcomes reported to date. This compiled analysis conclusively shows that embryos with different pattern of chromosomal mosaicism have a distinct set of clinical outcomes. These findings should be considered for genetic counseling.

Have questions pertaining to this lecture? Leave your questions in the comment box below or send them to Questions collected will be addressed at the live forum session happening on Saturday, 14 November 2020 at 3pm (GMT+8).


Watch our forum session which was held on Saturday, 14 November 2020 at 3pm (GMT+8).

Moderator: Dr Ivan Sini (Jakarta, Indonesia)

Panellists: Professor Junhao Yan (Shandong, China), Dr Francesca Spinella (Rome, Italy)