RESUMO
Preimplantation genetic testing (PGT), which was developed as an alternative to prenatal genetic testing, allows couples to avoid pregnancies with abnormal chromosomes and the subsequent termination of the affected fetus. Originally used for early onset monogenic conditions, PGT is now used to prevent various types of inherited cancer conditions based on the development of PGT technology, assisted reproductive techniques (ARTs), and in vitro fertilization (IVF). This review provides insights into the potential benefits and challenges associated with the application of PGT for hereditary cancer and provides an overview of the existing literature on this test, with a particular focus on the current challenges related to laws, ethics, counseling, and technology. Additionally, this review predicts the future potential applications of this method. Although PGT may be utilized to predict and prevent hereditary cancer, each case should be comprehensively evaluated. The motives of couples must be assessed to prevent the misuse of this technique for eugenic purposes, and non-pathogenic phenotypes must be carefully evaluated. Pathological cases that require this technology should also be carefully considered based on legal and ethical reasoning. PGT may be the preferred treatment for hereditary cancer cases; however, such cases require careful case-by-case evaluations. Therefore, this study concludes that multidisciplinary counseling and support for patients and their families are essential to ensure that PGT is a viable option that meets all legal and ethical concerns.
RESUMO
BACKGROUND: Male factor infertility is quite common as 30-50% of infertility cases are due to sperm defects. The high sperm DNA fragmentation is one of the causes of male factor infertility. Many factors cause sperm DNA fragmentation and could be testicular or post-testicular. The purpose of this study was to assess relationships among sperm DNA fragmentation, lifestyle factors and semen values of Saudi men and to determine impact of sperm DNA fragmentation on ICSI cycle outcome. METHODS: The duration of this study was from January 2015 to June 2016. The cases with female factor infertility were excluded. In total 94 couples were selected for investigation. The study parameters were male age, body mass index, smoking, semen values, % sperm DNA fragmentation, fertilization rate and pregnancy outcome. The ICSI procedure was performed in all patients per standard protocol. The semen samples were grouped based on % sperm DNA fragmentation into < 15%, 15-30 and > 30% which corresponded to low, moderate and high sperm DNA fragmentation, respectively. RESULTS: There was no difference in ICSI outcome in low and moderate sperm DNA fragmentation, however, in high sperm DNA fragmentation no patient achieved pregnancy. In this study, 53.19% Saudi men had low, 32.98% moderate and 13.83% high DFI. Semen volume, sperm morphology and fertilization rate did not show any correlation trend with DNA fragmentation, however, sperm concentration and motility were negatively correlated in all DFI categories. The BMI was positively correlated in moderate DFI category and smoking was positively correlated with low DFI category. The age was positively correlated in moderate and high DFI categories. CONCLUSIONS: The results of this study indicated that 14% Saudi men had high DNA fragmentation. The BMI was positively correlated in moderate DFI category and smoking was positively correlated with low DFI category. The age was positively correlated in moderate and high DFI categories.