Actualización de detección de alteraciones genéticas mediante las pruebas no invasivas prenatales

Abstract

Non-invasive prenatal testing (NIPT) is a crucial and innovative tool in detecting genetic alterations. Without invasive procedures, this method is essential for identifying genetic abnormalities, such as chromosomal aneuploidies, microdeletions, and monogenic diseases. NIPT has revealed high detection rates for common trisomies and other genetic anomalies, especially in cases with abnormal ultrasound findings or relevant family history. Based on a rigorous literature review of seven high-quality articles, this study emphasizes the efficacy of non-invasive prenatal testing for accurately detecting genetic abnormalities using specific inclusion criteria and selective searching. The results support the clinical implementation of NIPT as a safe and effective option in prenatal screening, offering valuable reassurance to pregnant women and their families by providing detailed information on the genetic health of the fetus. In addition, areas for improvement are highlighted, such as the reduction of false positives and the optimization of genetic panels, pointing to further research required to improve the accuracy and coverage of these tests. The fetal DNA fraction is crucial to the sensitivity of the test. Gestational age, maternal weight, multiple pregnancies, and ethnicity affect this fraction. In conclusion, NIPT represents a valuable tool in the prenatal detection of genetic anomalies. However, careful consideration of the technologies used and strategy implementation is required to effectively address the various clinical and genetic complexities.