Comparison of next-generation sequencing and Oxford nanopore technology for noninvasive prenatal testing in thalassemia screening: a comprehensive review

Thalassemia, a common genetic condition, requires preventative measures as there is currently no established therapy. Previously, invasive methods have been used for the screening and diagnosis of thalassemia. However, the fetus is vulnerable to possible harm, such as physical damage, spontaneous abortion, or intrauterine infection due to intrusive operations. Therefore, there is a strong need for noninvasive prenatal diagnostic approaches to accurately detect thalassemia. Maternal plasma cell-free DNA has significantly transformed the prenatal care system for pregnancies with common chromosomal aneuploidies through the use of noninvasive prenatal testing. Next-Generation Sequencing and Oxford Nanopore Technology are noninvasive techniques used to detect thalassemia. To achieve clinical integration, technological, regulatory, and ethical dimensions must be considered and addressed. The selection of the best diagnostic method relies on particular aims and improvements in technology. This study compares the methodologies, advantages, challenges, clinical validity, ethical concerns, and ongoing research efforts of next-generation sequencing using Oxford Nanopore Technologies. The goal was to assist in making well-informed decisions regarding the incorporation of these technologies into regular clinical practice. This article aims to add to the continuing discussion on Non-Invasive Prenatal Testing for thalassemia to promote progress that can have a beneficial effect on prenatal care and genetic screening procedures.