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Updated: Jun 24, 2026
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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
The SAFE project: towards non-invasive prenatal diagnosis
Deborah G Maddocks1, Medhat S Alberry, George Attilakos
1Centre for Research in Biomedicine, Faculty of Health and Life Sciences, University of the West of England, Bristol, UK. debbie.maddocks@uwe.ac.uk
Biochemical Society Transactions
|March 18, 2009
Summary
Non-invasive prenatal diagnosis using cell-free fetal DNA (ffDNA) is now a clinical reality, enabling early detection of fetal conditions and pregnancy risks. Research is advancing to overcome challenges, focusing on ffRNA for new biomarkers.
Area of Science:
- Genetics
- Molecular Biology
- Obstetrics
Background:
- Cell-free fetal DNA (ffDNA) detection in maternal circulation revolutionized prenatal diagnostics.
- Non-invasive prenatal diagnosis (NIPD) now identifies fetal genetic conditions and predispositions to obstetric complications like pre-eclampsia.
- The primary clinical application of ffDNA genotyping is screening for hemolytic disease of the fetus and newborn (HDFN).
Purpose of the Study:
- To review the advancements and applications of non-invasive prenatal diagnosis (NIPD) using cell-free fetal DNA (ffDNA).
- To highlight the role of initiatives like the SAFE Network of Excellence in standardizing NIPD.
- To discuss emerging research directions, including the use of ffRNA for detecting aneuploidies like Down's syndrome.
Main Methods:
- Real-time PCR for ffDNA detection.
- Genotyping of paternally inherited alleles and sex-linked conditions.
- Analysis of ffDNA concentration for predicting pregnancy complications.
- Exploration of ffRNA as a biomarker for aneuploidy detection.
Main Results:
- NIPD using ffDNA is clinically established for detecting various fetal genetic traits and risks.
- Standardization of non-invasive RHD genotyping has been significantly advanced by collaborative research networks.
- Challenges in detecting ffDNA from maternal plasma due to high maternal DNA background are being addressed.
- Research is shifting towards ffRNA for improved detection of aneuploid pregnancies.
Conclusions:
- NIPD has transformed prenatal care, offering safer and more informative diagnostic options.
- Continued research into ffDNA and ffRNA holds promise for expanding NIPD capabilities.
- Future directions focus on cost-effective, routine NIPD and neonatal screening for a wider range of conditions.
