Volume 8, Issue 4 (2023)
SJMR 2023, 8(4): 261-268 |
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Abbasi B, Pakzad H, Ashouri M, Karimi-Mansoorabad E. Comparative Analysis of Microarray-Based and NGS-Based Cell-Free DNA for Trisomy 21 Detection in Prenatal Diagnostics: A Systematic Review. SJMR 2023; 8 (4) : 6
URL: http://saremjrm.com/article-1-319-en.html
URL: http://saremjrm.com/article-1-319-en.html
1- Department of Medical Genetics, National Institute of Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran.
2- M.A of Knowledge and Information Science, Alzahra University, Tehran, Iran.
2- M.A of Knowledge and Information Science, Alzahra University, Tehran, Iran.
Abstract: (771 Views)
Advancements in prenatal diagnostics have significantly improved early detection of fetal chromosomal abnormalities, particularly through noninvasive prenatal testing (NIPT). This systematic review compares two prominent NIPT technologies—microarray-based cell-free DNA (cfDNA) and next-generation sequencing (NGS)-based cfDNA—for detecting trisomy 21 (Down syndrome). By analyzing cell-free fetal DNA in maternal blood, these methods offer crucial insights into fetal health, reducing the need for invasive procedures like amniocentesis.
The review encompasses a comprehensive search of PubMed, MEDLINE, EMBASE, and the Cochrane Library, identifying studies up to July 2023. Eight studies met the inclusion criteria, comparing the diagnostic accuracy, failure rates, and clinical implications of both cfDNA technologies.
Microarray-based cfDNA exhibited high sensitivity and specificity (99.2% and 99.8%, respectively), with lower failure rates (2.8%). NGS-based cfDNA also showed high sensitivity and specificity (99.6% and 99.9%) but had higher failure rates (up to 12.4%). While NGS-based testing offers broader genomic coverage and can detect additional chromosomal abnormalities, it also poses a higher risk of incidental findings, which may lead to overdiagnosis and parental anxiety.
This review highlights that microarray-based cfDNA is generally more cost-effective and suitable for routine prenatal screening due to its lower failure rates and high accuracy. NGS-based cfDNA, despite being more complex and costly, is advantageous for detailed chromosomal analysis in high-risk pregnancies. The choice between these technologies should consider clinical context, cost-effectiveness, and patient preferences to optimize prenatal care. Future research should aim for standardized reporting and direct comparative studies to further refine NIPT methodologies, potentially integrating hybrid approaches that combine the strengths of both technologies.
The review encompasses a comprehensive search of PubMed, MEDLINE, EMBASE, and the Cochrane Library, identifying studies up to July 2023. Eight studies met the inclusion criteria, comparing the diagnostic accuracy, failure rates, and clinical implications of both cfDNA technologies.
Microarray-based cfDNA exhibited high sensitivity and specificity (99.2% and 99.8%, respectively), with lower failure rates (2.8%). NGS-based cfDNA also showed high sensitivity and specificity (99.6% and 99.9%) but had higher failure rates (up to 12.4%). While NGS-based testing offers broader genomic coverage and can detect additional chromosomal abnormalities, it also poses a higher risk of incidental findings, which may lead to overdiagnosis and parental anxiety.
This review highlights that microarray-based cfDNA is generally more cost-effective and suitable for routine prenatal screening due to its lower failure rates and high accuracy. NGS-based cfDNA, despite being more complex and costly, is advantageous for detailed chromosomal analysis in high-risk pregnancies. The choice between these technologies should consider clinical context, cost-effectiveness, and patient preferences to optimize prenatal care. Future research should aim for standardized reporting and direct comparative studies to further refine NIPT methodologies, potentially integrating hybrid approaches that combine the strengths of both technologies.
Article number: 6
Keywords: cell-free DNA (cfDNA), Next-Generation Sequencing (NGS), Noninvasive Prenatal Testing (NIPT).
Article Type: Systematical Review |
Subject:
Sterility Genetical Disorders
Received: 2023/12/23 | Accepted: 2024/01/20 | Published: 2024/11/14
Received: 2023/12/23 | Accepted: 2024/01/20 | Published: 2024/11/14
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