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Following the success of the previous talkshows "Genetics Counseling - Discussing with Experts", in this topic, GENTIS is honored to be accompanied by two leading experts in the field of reproductive support, genetic testing. transmission:
- Assoc. Prof. TS.BS Ho Sy Hung - Deputy Director of the National Center for Reproductive Support, National Hospital of Obstetrics and Gynecology
• Dr. Pham Dinh Minh - Director of Research and Development Center GENTIS
At the talkshow, Assoc. Prof. TS.BS Ho Sy Hung shared his knowledge, information and clinical experience when practicing mosaic embryo transfer, as well as the latest instructions and updates on how to handle mosaic embryo transfer in reality.
In the field of assisted reproduction, mosaicism is a concept that refers to the presence of cells with different genotypes in the same embryo. Can be identified with blastocyst biopsy – taking multiple TE cells. Based on the percentage of abnormal cells, we can diagnose it as mosaic.
Dr. Hung added, the results of PGT-A are affected from the biopsy site; the sensitivity and specificity of the PGT-A implementation platform; Analytical techniques, software used and threshold settings for mosaic interpretation. When transferring mosaic embryos, pregnancy rates can be achieved as desired. Note that the pregnancy outcome of mosaic embryo transfer is poorer than that of haploid embryo transfer, and pregnancy rates may not be different with unscreened embryo transfer.
According to Assoc. Prof. Ho Sy Hung, in embryo testing, there are cases that are very easy to handle, we get completely normal embryos. There are cases that we rule out as soon as the embryo has a very severe abnormality, never to be transferred. However, there are situations where we don't know how to handle it, what will happen if it is transferred to the patient, if not transferred and left, there is a fee, will it miss the opportunity for couples who have been infertile for many years?
Therefore, genetics associations have made recommendations based on a number of studies to provide the greatest consensus: Preimplantation Genetic Diagnostics International Society (PGDIS) 2016, 2019; Preimplantation Genetic Diagnostics International Consortium (PGDIS) 2021; CoGEN 2017. Based on these data, the following clinical guidelines have been proposed:
- • Priority is given to normal embryo transfer (whole set)
• If there is no normal embryo, advise doing the next IVF cycle
• Consider transfer of mosaic embryos in cases
- No normal embryos after IVF/PGT-A . cycle(s)
- All normal embryos have been transferred
• Patients choosing mosaic embryo transfer must be fully counseled by a clinical geneticist regarding PGT-A results and possible clinical outcomes. The decision to transfer mosaic embryos is made after careful consideration of the benefits, risks, and alternatives.
The parameters to evaluate the selection of mosaic embryos are the degree of mosaicism, the specific chromosomes being mosaicized, monosomy or trisomy, the mosaic of both chromosomes or part of the chromosomes, the number of mosaic chromosomes (one, two) or more) and prenatal/postnatal screening: Karyotype or microarray.
In response to a question from Dr. Hien in Phu Tho, Assoc. Prof. TS.BS Ho Sy Hung said, in case if the couple doing IVF do not have a haploid embryo to transfer, we will come back to find out how they do. If an older couple doesn't have many opportunities to create normal embryos and it doesn't cost much to do more IVF or testing, now we have to consider and transfer mosaic embryos to people. If this couple is young and ready for another cycle of IVF, we should consider doing another cycle of IVF.
Note that couples who have been infertile for many years, are older, their husbands have abnormal sperm, and have a history of repeated miscarriages are the groups that do IVF that will have a higher risk of creating mosaic embryos.
Currently, GENTIS is one of the pioneers in Vietnam in providing fertility tests. Dr. Pham Dinh Minh said that, compared to other units, GENTIS has always demonstrated its superiority and difference in technology and ensured the accuracy of pre-embryo genetic testing. GENTIS is applying the latest PGT testing technologies such as: PGT MAX 1, ONE PGT-M, specifically as follows:
- PGT - MAX 1 - High resolution PGT test detects:
- Complete aneuploidy of 24 chromosomes
- Structural abnormalities (addition, deletion): > 5 Mb
- 2 abnormalities with loss of segments >2 Mb in size:
Deletion of 22q11.2 (associated with DiGeorge syndrome)
+ 1p36 deletion (associated with 1p36 deletion syndrome)
1. ONE PGT-M helps to optimize the cost and time of testing for single gene disease (PGT-M). This method is performed for couples who are at risk of passing on single-gene disorders to the next generation.
2. In addition, GENTIS also researches and develops other pre-implantation genetic tests to detect more embryo abnormalities such as PGT-A (Detects 24 chromosome abnormalities in embryos), PGT -SR (Detecting Abnormalities of embryo chromosome structure with size >5Mb), PGT-M (Detecting genetic abnormalities of single gene diseases such as Thalassemia, Myelodystrophy, Adrenal hyperplasia...), method that combines both PGT-A/SR and PGT-M,...
GENTIS promises to always try non-stop to make each process and each result the most accurate and rigorous, fulfilling the mission of improving the physical and mental health of the Vietnamese people.
Hopefully, the useful information shared by the two experts in the talk show "Genetics Counseling - Discussing with Experts" this time will help doctors and the audience better understand the issues surrounding mosaic embryo transfer. GENTIS will continue to bring more meaningful programs to serve doctors and customers.
