जर्नल ऑफ़ फर्टिलाइजेशन: इन विट्रो - आईवीएफ-वर्ल्डवाइड, रिप्रोडक्टिव मेडिसिन, जेनेटिक्स और स्टेम सेल बायोल
खुला एक्सेस

अमूर्त

Preimplantation Genetic Testing and Cystic Fibrosis

Melissa Kicin, Emina Ejubovic, Aida Hajdarpasic

Cystic Fibrosis (CF) is one of the most common autosomal recessive disorders, as well as it is among the most common diseases diagnosed by prenatal and Preimplantation Genetic Testing (PGT) for monogenic conditions. The main focus of our research was to analyze the state of PGT for CF. The objective was to systematically review developments in the field of PGT from 2010 to 2020, giving an overview of currently available diagnostic tools, their efficiency and complications, their cost and perceptions of patients and doctors. The selection process included extensive search of databases like PubMed, DOAJ and Grey Literature (Google Scholar). A total of 700 papers were identified, of which 310 were eligible for title and abstract screening. After following specific inclusion criteria, a final number of 39 papers were included. The field of pre-implantation genetic testing is constantly evolving, with new technologies and approaches emerging fast. Studies have shown that PGT is nowadays used more frequently than prenatal testing. Because of the sheer number of studies and different existing approaches, it is becoming progressively more challenging to reach standardization. One of the main findings was that ethnicity is a major influence or obstacle. This is primarily due to populations becoming increasingly multiethnic, which makes it difficult to allocate a distinct ethnicity to one individual. Traditional ethnicity-based approaches could lead to individuals of non-traditional backgrounds to miss the opportunity of screening. Revision and reviews of available studies, comparison of outcomes and summarizing present problems could help achieve uniformity in testing.