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Some Issues to Discuss in Genetic Counseling for PGT-M Testing

Created date : 05-07-2024
Updated date: 28-08-2024
Author: Gentis
Preimplantation genetic testing for monogenic/single gene - PGT-M is a groundbreaking advancement that brings hope to having healthy children to families affected by single-gene hereditary conditions. However, genetic counseling for PGT-M testing remains challenging, primarily due to issues in pre-cycle counseling and the expertise and experience of genetic counselors. This was shared by MSc. Nguyen Thi Huyen, M.D (Specialist in Genetic Counseling at GENTIS Genetic Counseling Center) during the ART ADVANCED 11 Seminar with the theme "Controversial Issues in Assisted Reproductive Technology."
Main content

he Importance of Genetic Counseling in PGT-M Testing for Assisted Reproductive Technology

PGT-M testing allows couples to select genetically healthy embryos for transfer into the mother's uterus, aiming to prevent the risk of passing on hereditary diseases or disease-causing genes to the next generation. This, in turn, helps manage and alleviate the health, financial, and emotional burdens faced by families affected by genetic disorders. The test is indicated for specific single-gene disorders with clearly identified genetic causes.

MSc. Nguyen Thi Huyen, M.D presented a report on Some Issues to Discuss in Genetic Counseling for PGT-M Testing

Before initiating a PGT-M cycle, doctors identify the genetic cause of the disorder, assess the inheritance pattern, and evaluate the genetic risks. They also explain to patients the potential for false negatives and false positives in the test, as well as the benefits, risks, and possible outcomes of agreeing to undergo PGT-M.

To perform PGT-M, couples must undergo in vitro fertilization (IVF) to create embryos. Once the embryos reach the blastocyst stage, a biopsy is conducted (where 3-5 cells are taken from the part of the embryo that will later develop into the placenta). These biopsied cells are then subjected to specialized testing methods to detect disease-causing genetic mutations. If the mother becomes pregnant following a PGT-M cycle, genetic counselors and clinicians will develop a close follow-up plan for her during the pregnancy.

Challenges and Difficulties in Genetic Counseling for PGT-M Testing

In PGT-M testing, genetic counseling is an important process before, during, and after obtaining the results. MSc. Nguyen Thi Huyen, M.D, explained that genetic counseling in PGT-M faces numerous challenges and difficulties. The most common challenge is ensuring that patients understand their condition well enough to make informed and wise decisions. Additionally, the knowledge and experience of the counselor are vital, as they directly impact the amount and quality of information provided to the patient.

Another significant challenge is identifying the genetic mutations responsible for the disorder or understanding the inheritance patterns, as well as the tools needed to detect these mutations. Other factors affecting PGT-M results include how the embryo biopsy is conducted, the technology used, and whether the results meet the initial expectations. All of these factors will depend on thorough, informative and, importantly, individualized genetic counseling that the patient can understand. Therefore, it is essential to have coordinated counseling from clinical experts, embryology labs, and  geneticists before, during, and after the testing, so that patients are fully informed of the benefits and limitations of PGT-M, as well as the challenges in embryo screening, embryo transfer, and prenatal diagnosis.

Moreover, counseling on pregnancy follow-up after embryo transfer is also a challenge for clinical doctors. Coordination with obstetricians is needed to manage the pregnancy effectively, and with pediatricians and geneticists after childbirth.

These insights were presented by MSc. Nguyen Thi Huyen, M.D, Genetic Counselor at GENTIS Genetic Counseling Center, during the ART ADVANCED 11 Seminar titled "Controversial Issues in Assisted Reproductive Technology" held on June 29 in Hanoi. The seminar was honored by the participation of leading experts in Andrology, Assisted Reproductive Technology, Obstetrics, along with many doctors from various centers and hospitals who shared knowledge and discussed the latest scientific and technological advancements to improve the effectiveness of infertility treatments.

Dr. Dang Vinh Dung (108 Military Central Hospital) Presents on “Evaluating the Effectiveness of PRP in Treating Patients with Ovarian Failure”

At the workshop, Dang Vinh Dung, M.D, PhD (108 Military Central Hospital) presented the initial results of applying ovarian rejuvenation using platelet-rich plasma (PRP). He emphasized the effectiveness and practical application of this method in supporting the treatment of ovarian failure. GENTIS is honored to have provided scientific information about the PRP IVF kit to Dr. Dung.

As a sponsor of the ART Advanced 11 Seminar, GENTIS hosted many engaging activities for the attending doctors and delegates at their exhibition booth. The experts in attendance highly appreciated the tests provided, researched, and developed by GENTIS.

The GENTIS booth at the ART ADVANCED 11 Seminar garnered significant interest from doctors.

Over the past 13 years, GENTIS has continuously contributed to the development of the reproductive health field in Vietnam. Committed to delivering high-quality products and services, GENTIS consistently strives to support the community and advance the reproductive healthcare sector

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