A Mini-Review Regarding the Clinical Outcomes of In Vitro Fertilization (IVF) Following Pre-Implantation Genetic Testing (PGT)-Next Generation Sequencing (NGS) Approach

Abstract

Background: PGT-based NGS revolutionized the field of reproductive medicine becoming an integrated component within current assisted reproductive technology (ART) protocols. Methods: We searched the literature published in the last half a decade in four databases (PubMed/Medline, ISI Web of Knowledge, ScienceDirect, and Scopus) between 2018 and2022. Results: A total of 1388 articles were filtered, from which 60 met, initially, the eligibility criteria, but only 42 were included (≥100 patients/couples—62,465 patients and 6628 couples in total) in the present mini-review. In total, forty-two (70.0%) reported reproductive outcomes, while eighteen (30.0%) had distinct objectives. Furthermore, n = 1, 1.66% of the studies focused on PGT, n = 1, 1.66% on pre-implantation genetic testing for monogenic disorders (PGT-M), n = 3, 5.0% on pre-implantation genetic testing for structural rearrangements (PGT-SR) and n = 55, 91.66% on pre-implantation genetic testing for aneuploidies (PGT-A). Conclusions: PGT using NGS proved to be an excellent companion that folds within the current ascending tendency among couples that require specialty care. We strongly encourage future studies to provide a systematic overview expanded at a larger scale on the role of the PGT-NGS.

Preimplantation Genetic Testing for Genetic Diseases: Limits and Review of Current Literature

“…Various methods are employed for PGT-SR, including FISH, aCGH, and NGS. This type of genetic testing does not require preclinical setup and is mainly performed on embryonic biopsies collected at the cleavage or blastocyst stage [41,42]. However, as with any innovation, PGT-SR is not without limitations and challenges that require a thorough understanding to enhance its effectiveness and clinical applicability.…”

Оценка Эффективности Применения Преимплантационного Генетического Тестирования В Программах Вспомогательных Репродуктивных Технологий: Ретроспективное Исследование

“…Введение: Перенос эмбриона с нормальным набором хромосом в полость матки позволяет с высокой степенью вероятности достичь беременности и повысить шансы на рождение здорового ребенка за счёт снижения вероятности спонтанного прерывания беременности или рождения ребенка с хромосомной патологией [1][2][3][4]. Проведение преимплантационного генетического тестирования на анеуплоидии (ПГТ-А) направлено на определение хромосомного статуса эмбриона [5,6].…”

Genetic counseling for pre-implantation genetic testing of monogenic disorders (PGT-M)

“…(j) There are many other complex disorders with multi-gene etiology and for their diagnosis including differential diagnosis, NGS based WES is used. The test relies on sequencing of genomic exons or the coding regions of the genome and is usually recommended for the affected family member (Index or proband) (42,43). Couple carrier screening can also be offered.…”