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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
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What does next-generation sequencing mean for prenatal diagnosis?
Gwendolin Manegold-Brauer1, Sinuhe Hahn, Olav Lapaire
1Department of Gynecology & Obstetrics, Ultrasound Unit, University of Basel, Switzerland.
Biomarkers in Medicine
|May 7, 2014
Summary
Noninvasive prenatal testing (NIPT) uses fetal DNA in maternal blood for genetic analysis. This technology has rapidly advanced, offering new insights into fetal chromosomal abnormalities.
Area of Science:
- Genetics
- Prenatal Medicine
- Molecular Diagnostics
Background:
- Fetal DNA detection in maternal blood was a long-standing research goal.
- Next-generation sequencing enabled the clinical application of noninvasive prenatal testing (NIPT).
- High demand has driven rapid technological advancements in NIPT.
Purpose of the Study:
- To describe the fundamental concepts of cell-free DNA-based NIPT.
- To provide an overview of available commercial NIPTs and detectable chromosomal aberrations.
- To discuss the current and future integration of NIPT into clinical practice.
Main Methods:
- Analysis of cell-free fetal DNA (cffDNA) circulating in maternal plasma.
- Application of next-generation sequencing (NGS) technologies.
- Review of current commercial NIPT platforms and their capabilities.
Main Results:
- NIPT enables the detection of various chromosomal abnormalities from maternal blood.
- Commercial tests offer a range of capabilities for aneuploidy screening.
- The field is characterized by rapid technological evolution and a growing body of literature.
Conclusions:
- Cell-free DNA-based NIPT is a transformative technology in prenatal diagnosis.
- Understanding current concepts and available tests is crucial for clinical implementation.
- Future directions involve expanding NIPT's scope and refining its integration into routine care.
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