UPDATE ON THE PRENATAL GENETIC SCREENING 2023

Background: The benefits of prenatal genetic screening include the ability to assess the risk of genetic disorders, with NIPTs offering high detection rates and low false-positive rates. Recent advances, such as AI algorithms, promise enhanced accuracy and personalized prenatal care. However, risks, such as the potential for parental pressure to terminate pregnancies based on genetic findings, must be carefully considered.

Objective: To highlight technological advancements that enhance accuracy, reduce the risk of miscarriage, and revolutionize screening for chromosomal aneuploidies besides addressing challenges and limitations

Method: Comprehensive research of prenatal genetic screening. PUBMED and Google Scholar search engines were the main databases used for the search process, and articles were collected from 2000 to 2023. The terms used in the search were: Prenatal, Genetic, and screening.

Conclusion: prenatal genetic screening has undergone transformative changes with the advent of advanced technologies, such as next-generation sequencing (NGS) and non-invasive prenatal tests (NIPTs), offering more accurate and comprehensive screening options. These developments, including Chromosomal Microarray Analysis (CMA) and cell-free fetal DNA (cffDNA) testing, have significantly improved the detection of chromosomal aneuploidies while reducing the risk of miscarriage associated with invasive procedures.

Keywords: Prenatal, Genetic, screening.