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Cell-Free Fetal DNA Testing for Prenatal Diagnosis
S Drury1, M Hill1, L S Chitty1
1NE Thames Regional Genetics Service, Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom; Genetics and Genomic Medicine, UCL Institute of Child Health, London, United Kingdom.
Advances in Clinical Chemistry
|September 21, 2016
Summary
Advances in molecular technology are revolutionizing prenatal testing. Noninvasive prenatal testing (NIPT) and diagnosis (NIPD) offer safer choices for expectant parents, with potential for future whole-genome sequencing.
Area of Science:
- Reproductive Medicine
- Genetics
- Molecular Diagnostics
Background:
- Prenatal diagnosis and screening have rapidly evolved due to molecular technology.
- Noninvasive prenatal testing (NIPT) for Down syndrome is widely available and being integrated into public healthcare.
- Noninvasive prenatal diagnosis (NIPD) now extends to recessive and X-linked conditions.
Purpose of the Study:
- To review the advancements in noninvasive prenatal testing (NIPT) and diagnosis (NIPD).
- To highlight the benefits of NIPT/NIPD for expectant couples, including increased choice and reduced risk.
- To discuss the future potential of cell-free DNA sequencing for prenatal screening.
Main Methods:
- Review of current molecular technologies in prenatal diagnostics.
- Analysis of the clinical implementation and accessibility of NIPT and NIPD.
- Exploration of emerging technologies like whole exome and genome sequencing from maternal plasma.
Main Results:
- NIPT is a highly sensitive screening tool for Down syndrome, globally accessible.
- NIPD enables definitive diagnosis for a broader range of genetic conditions.
- Safer NIPD/T methods reduce the risks associated with invasive procedures.
Conclusions:
- Noninvasive prenatal testing and diagnosis provide significant benefits to expectant parents.
- Technological progress, particularly in sequencing, promises expanded prenatal screening capabilities.
- Clinical implementation of advanced NIPT/NIPD requires ongoing debate and consideration.
