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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Clinical Outcome, Socioeconomic Status and Psychological Constrains of Patients Undergoing Preimplantation Genetic
Antonios Patrikiou1, Alexandra Papadopoulou1, Christos Noutsos2
1Unit for Human Reproduction, 1st Department of Obstetrics & Gynaecology, Aristotle University Medical School, Papageorgiou General Hospital, 56403 Thessaloniki, Greece.
Insights
Preimplantation genetic testing (PGT) helps create healthy babies by screening embryos for genetic and chromosomal issues. While effective, patients experience significant emotional distress, highlighting the need for comprehensive counseling.
Area of Science:
- Reproductive Medicine
- Clinical Genetics
- Embryology
Background:
- Preimplantation genetic testing (PGT) offers an alternative to prenatal diagnosis for couples seeking to avoid chromosomal or genetic disorders.
- This study examines PGT application in Northern Greece, focusing on clinical outcomes and patient experiences.
Purpose of the Study:
- To evaluate clinical outcomes of PGT for monogenic conditions (PGT-M) and aneuploidy (PGT-A).
- To investigate patient motives, socioeconomic factors, and the physical and emotional impact of PGT.
- To assess the effectiveness of PGT in establishing healthy pregnancies.
Main Methods:
- Retrospective analysis of 19 PGT-M and 22 PGT-A cycles.
- Recording fertilization, implantation, and ongoing pregnancy rates.
- Administering questionnaires on pre-treatment consultation, sociodemographics, and psychological impact on both partners.
Main Results:
- Fertilization rates: 81.3% (PGT-M) and 78.2% (PGT-A).
- Implantation rates: 70.6% (PGT-M) and 64.3% (PGT-A).
- Ongoing pregnancy rates: 52.9% (PGT-M) and 57.1% (PGT-A).
- Females reported more physical pain; psychological distress was reported by both partners, sometimes more intensely by males.
- No distinct socioeconomic profile identified for PGT patients in Northern Greece.
Conclusions:
- PGT is a viable option for preventing the transfer of abnormal embryos, leading to healthy pregnancies.
- Patients perceive PGT benefits but experience significant psychological distress, particularly those with prior affected children or no viable embryos.
- Holistic counseling is crucial to support patients emotionally and aid decision-making throughout the PGT process.
Abstract:
Background and objectives: Preimplantation genetic testing (PGT) offers patients the possibility of having a healthy baby free of chromosomal or genetic disorders. The present study focuses on the application of PGT for patients located in Northern Greece, investigating their clinical outcomes, their motives, and their overall physical and emotional experience during the treatment, in association with their socioeconomic background. Materials and Methods: Couples who underwent PGT for a monogenic condition (PGT-M, n = 19 cycles) or aneuploidy (PGT-A, n = 22 cycles) participated in the study. Fertilization, implantation, and pregnancy rates were recorded for all cycles. The couples were asked to fill in a questionnaire about the consultation they had received prior to treatment, their sociodemographic information, and the psychological impact PGT had on both the female and male partner. Results: The fertilization, implantation, and ongoing pregnancy rates for the PGT-M and PGT-A cycles were 81.3%, 70.6%, and 52.9%, and 78.2%, 64.3%, and 57.1%, respectively. Females experienced more intense physical pain than their male partners while psychological pain was encountered by both partners and occasionally in higher instances in males. No typical socioeconomic background of the patients referred for PGT in Northern Greece was noticed. Conclusion: PGT is an attractive alternative to prenatal diagnosis (PND), aiming to establisha healthy pregnancy by identifying and avoiding the transfer of chromosomally or genetically abnormal embryos to the uterus. Although the benefits of PGT were well-received by all patients undergoing the procedure, psychological pain was evident and especially prominent in patients with a previous affected child or no normal embryos for transfer. Holistic counseling is of utmost importance in order to make patients' experience during their journey to have a healthy baby less emotionally demanding and help them make the right choices for the future.
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