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NIPT of Maternal Plasma-Originated cfDNA: Applications and Guide for the Implementation
Fco Javier Fernández Martínez1, M Mar Gil Mira2, Cristina González González3
1Genetics Service, 12 de Octubre University Hospital, 12 de Octubre Hospital Research Institute (Imas12), Madrid, 28041, Spain.
The Application of Clinical Genetics
|May 5, 2025
Summary
Non-invasive prenatal testing (NIPT) using cell-free DNA (cfDNA) is now in Spain's health system. This guide offers recommendations to standardize NIPT indications, methods, and reporting for better clinical validity.
Area of Science:
- Genetics
- Maternal Health
- Molecular Diagnostics
Background:
- Non-invasive prenatal testing (NIPT) based on cell-free DNA (cfDNA) analysis has advanced significantly over 20 years.
- NIPT is now part of the Spanish National Health System, but practices vary widely internationally and nationally.
Purpose of the Study:
- To provide expert recommendations for standardizing NIPT implementation within the Spanish healthcare system.
- To address heterogeneity in NIPT indications, methodologies, and reporting standards.
Main Methods:
- Development of a guide by experts from the Spanish Association of Prenatal Diagnosis (AEDP) and the Spanish Association of Human Genetics (AEGH).
- Review of scientific evidence to establish a minimum framework for NIPT application.
- Consideration of technical, analytical, counseling, and legal aspects.
Main Results:
- The guide establishes recommendations for standardizing NIPT, covering technical requirements, integration with invasive methods, genetic counseling, and legal issues.
- It addresses the detection of common aneuploidies and limitations regarding structural abnormalities and rare variants.
- The impact of biological and clinical factors on NIPT performance is discussed.
Conclusions:
- Standardized NIPT implementation, based on scientific evidence, is crucial for clinical validity and cost-effectiveness.
- The guide aims to ensure informed decision-making for healthcare professionals and pregnant women.
- Optimizing NIPT requires addressing variability in its application and understanding its performance limitations.
