Genetic and Molecular Tools for the Clinical Diagnosis of Down Syndrome
DOI:
https://doi.org/10.56294/saludcyt20251027Keywords:
Down Syndrome, Genetic Techniques, Molecular Diagnostic Techniques, Trisomy 21Abstract
Introduction: Down Syndrome (DS) is a genetic disorder caused by trisomy of chromosome 21, resulting in intellectual disability and an increased risk of congenital malformations. Advances in genetic and molecular diagnostics have improved the accuracy and speed of DS diagnosis, including next-generation sequencing (NGS) and whole exome sequencing (WES).
Methods: A systematic narrative review was applied to analyze the most recent genetic and molecular tools applied to DS diagnosis as well as the clinical conceptualization of the disease. The review included sources from the last five years, extracted from databases such as PubMed, Scopus, and Web of Science. After critical analysis, 40 articles were selected from an initial total of 72 primary sources.
Results: NGS and WES technologies have shown diagnostic sensitivity greater than 99% for DS, with false-positive rates below 0.5%. In prenatal diagnosis, non-invasive prenatal diagnosis (NIPD) using cell-free fetal DNA (cffDNA) in maternal plasma has achieved detection rates above 98%, reducing the need for invasive methods such as amniocentesis. Postnatally, molecular techniques such as real-time PCR (qPCR) and comparative genomic hybridization arrays (CGH-array) have reduced diagnostic times to less than 72 hours.
Conclusions: Genetic and molecular tools, especially NGS, WES, and NIPD, have revolutionized the diagnosis of DS, offering greater precision and speed while minimizing risks. Future research should focus on validating these methods for widespread use, especially in low-risk populations, and exploring the potential of WES to detect comorbidities associated with DS.
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Copyright (c) 2025 Mónica Paulina Manzano Vela, Dennis Renato Manzano Vela, Ana Carola Flores Mancheno, Marco Vinicio Parra Chávez (Author)
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