Prognostic data in fertility preservation: the role of preimplantation genetic testing for aneuploidy (PGT-A) among cancer patients undergoing embryo banking (EB)

The application of preimplantation genetic testing (PGT) began in the late 1980s. Pre-implantation genetic testing, as the earliest possible method of prenatal diagnosis, enables the selection of embryos with a normal karyotype for embryo transfer. The use of preimplantation genetic testing has proven to be a useful method in the following three groups of inherited diseases: monogenic disorders (single gene defects), trinucleotide repeat disorders, and chromosomal abnormalities. The success rate of in vitro fertilization (IVF) has increased significantly since the introduction of PGT into clinical practice. This paper presents a literature review with the aim of clearly determining the role of PGT in embryo selection before embryo transfer, as well as the role of this type of testing in increasing the success rate of IVF. One of the goals of the paper is also to review the development of molecular genetic methods that are currently, or have once been, in routine use when performing PGT. The current literature is an indicator of the development and progress of molecular genetics techniques applied in PGT. At the same time, it provides an opportunity and an incentive for further extensive research that will lead to the improvement of preimplantation genetic testing and thus increase the success rate of in vitro fertilization.

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Gestational surrogacy and the role of routine embryo screening: Current challenges and future directions for preimplantation genetic testing

Birth Defects Research Part C Embryo Today Reviews ◽

10.1002/bdrc.21112 ◽

2015 ◽

Vol 108 (1) ◽

pp. 98-102 ◽

Cited By ~ 4

Author(s):

E. Scott Sills ◽

Robert E. Anderson ◽

Mary McCaffrey ◽

Xiang Li ◽

Nabil Arrach ◽

...

Keyword(s):

Genetic Testing ◽

Preimplantation Genetic Testing ◽

Future Directions ◽

Gestational Surrogacy

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The Advance and Correlation of KRAS Mutation With the Fertility-Preservation Treatment of Endometrial Cancer in the Background of Molecular Classification Application

Pathology & Oncology Research ◽

10.3389/pore.2021.1609906 ◽

2021 ◽

Vol 27 ◽

Author(s):

KeXuan Yu ◽

Yiqin Wang

Keyword(s):

Endometrial Cancer ◽

Clinical Practice ◽

Cancer Patients ◽

Fertility Preservation ◽

Tumor Grade ◽

Molecular Classification ◽

Molecular Characteristics ◽

Histological Subtype ◽

Younger Women

The annually increasing incidence of endometrial cancer in younger women has created a growing demand for fertility preservation. However, the diverse therapeutic efficacy among patients under the same histological subtype and the same tumor grade suggests the potential interference of the innate molecular characteristics. The molecular classification has now been applied in clinical practice and might help to stratify the endometrial cancer patients and individualize the therapy, but the candidates for the fertility-spared treatment are most likely to be subdivided in the subgroup lacking the specific signature. KRAS mutation has been linked to the malignant transition of the endometrium, while its role in molecular classification and fertility preservation is vague. Here, we mainly review the advance of molecular classification and the role of KRAS in endometrial cancer, as well as their correlation with fertility-preservation treatment.

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The role of prenatal diagnosis following preimplantation genetic testing for single‐gene conditions: A historical overview of evolving technologies and clinical practice

Prenatal Diagnosis ◽

10.1002/pd.5662 ◽

2020 ◽

Vol 40 (6) ◽

pp. 647-651 ◽

Cited By ~ 1

Author(s):

Tristan Hardy

Keyword(s):

Clinical Practice ◽

Prenatal Diagnosis ◽

Genetic Testing ◽

Single Gene ◽

Historical Overview ◽

Preimplantation Genetic Testing

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Role of aneuploidy screening in preimplantation genetic testing for monogenic diseases in young women

Fertility and Sterility ◽

10.1016/j.fertnstert.2019.01.017 ◽

2019 ◽

Vol 111 (5) ◽

pp. 928-935 ◽

Cited By ~ 4

Author(s):

Wenhui Hou ◽

Yan Xu ◽

Rong Li ◽

Junli Song ◽

Jing Wang ◽

...

Keyword(s):

Genetic Testing ◽

Young Women ◽

Aneuploidy Screening ◽

Preimplantation Genetic Testing ◽

Monogenic Diseases

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Beyond fertility preservation: role of the oncofertility unit in the reproductive and gynecological follow-up of young cancer patients

Human Reproduction ◽

10.1093/humrep/dez108 ◽

2019 ◽

Vol 34 (8) ◽

pp. 1462-1469 ◽

Cited By ~ 13

Author(s):

Claudia Massarotti ◽

Paola Scaruffi ◽

Matteo Lambertini ◽

Fausta Sozzi ◽

Valentino Remorgida ◽

...

Keyword(s):

Cancer Survivors ◽

Cancer Patients ◽

Fertility Preservation ◽

Ovarian Reserve ◽

Standard Of Care ◽

Young Female ◽

Cancer Relapse ◽

Preservation Method

Abstract STUDY QUESTION Are there reasons that motivate young cancer survivors to ask for follow-up visits at an oncofertility unit? SUMMARY ANSWER Cancer survivors request oncofertility follow-up visits for the management of treatment-related side effects or ovarian reserve evaluation, even if not (or not yet) wishing for a pregnancy. WHAT IS KNOWN ALREADY Personalised oncofertility counselling before gonadotoxic therapies is considered standard of care for young women with newly diagnosed cancer. However, the long-term follow-up of these patients in an oncofertility unit is not described in the literature other than for the use of cryopreserved material. STUDY DESIGN, SIZE, DURATION We retrospectively examined rates and reasons for the first follow-up visits of 154 consecutive young female cancer patients (age range: 18–40 years) who underwent a pre-treatment consultation between January 2012 and June 2017. Demographic and clinical data were collected, as well as information about the chosen fertility preservation method, if any. PARTICIPANTS/MATERIALS, SETTING, METHODS Rates and reasons for follow-up visits were collected and expressed as percentages. Different reasons were examined in the whole cohort and stratified for type of malignancy. Possible predictive factors for return to the follow-up visit (age, nulliparity, presence of a partner, neoplasm, having cryopreserved material) were investigated through logistic regression. MAIN RESULTS AND THE ROLE OF CHANCE Out of 154 patients, 74 returned to the oncofertility unit (48.1%) for a follow-up visit. The first visit was requested mostly at the end of anticancer therapies (51.3% versus 40.5% during therapies and 8.1% after cancer relapse). Among these patients, only 10.8% returned for the first time because they were actively desiring a pregnancy. For the others, the most common reasons for consultations were management of gynecological adverse effects of therapies (29.7%) and evaluation of ovarian reserve not linked to an immediate desire for a pregnancy (39.2%). Other patients asked for contraception (4.1%), menopause counselling (5.4%), or new fertility preservation counselling because of cancer relapse (10.8%). None of the examined factors were significantly predictive of return to the oncofertility unit. LIMITATIONS, REASONS FOR CAUTION These findings represent the experience of a single centre. A longer duration of follow-up would be needed to provide more precise information on this regard. WIDER IMPLICATION OF THE FINDINGS The role of an oncofertility unit should not be limited to proposing fertility preservation procedures. In the management of young adult cancer patients, the reproductive medical specialist should be considered a key figure not only before but also during and after anticancer treatments to explore salient aspects of gynecological and reproductive health. STUDY FUNDING/COMPETING INTEREST(S) This research did not receive any specific funding. M.L. served as a consultant for Teva and received honoraria from Theramex outside the submitted work. The other authors declare no conflict of interest. TRIAL REGISTRATION NUMBER N.A.

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