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Non-invasive prenatal testing using cell-free fetal DNA in maternal circulation
Clinica Chimica Acta; International Journal of Clinical Chemistry
|February 1, 2014
Summary
Non-invasive prenatal testing (NIPT) uses cell-free fetal DNA (cffDNA) found in maternal blood. Advances in molecular analysis enable detection of fetal genetic conditions, expanding NIPT applications.
Area of Science:
- Genetics
- Molecular Biology
- Obstetrics
Background:
- Cell-free fetal DNA (cffDNA) circulates in maternal plasma.
- Fetal DNA is a minor component amidst maternal DNA, necessitating sensitive detection methods.
Purpose of the Study:
- To review the technical aspects of non-invasive prenatal testing (NIPT).
- To summarize current and future applications of NIPT in clinical practice.
Main Methods:
- Analysis of cell-free fetal DNA (cffDNA) in maternal circulation.
- Techniques include digital PCR and massively parallel sequencing (MPS).
Main Results:
- NIPT enables fetal sex assessment, RhD genotyping, and aneuploidy detection.
- Technical advancements have facilitated clinical implementation of NIPT.
Conclusions:
- NIPT is a rapidly advancing field with potential for detecting single-gene disorders.
- Future applications of NIPT will likely expand significantly.
