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Updated: Jul 17, 2026
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FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
36.7K
Non-invasive prenatal diagnosis (NIPD): current and emerging technologies.
Britt Hanson1, Ben Paternoster1, Nikita Povarnitsyn1
1North Thames Genomic Laboratory Hub, Great Ormond Street NHS Foundation Trust, London WC1N 3BH, UK.
Extracellular Vesicles and Circulating Nucleic Acids
|December 19, 2024
Summary
Non-invasive prenatal diagnosis (NIPD) uses cell-free fetal DNA (cffDNA) to detect rare genetic conditions, reducing the need for invasive procedures. Ongoing research aims to expand NIPD capabilities for maternally inherited variants.
Area of Science:
- Genetics
- Molecular Diagnostics
- Obstetrics
Background:
- Prenatal diagnosis of rare genetic conditions is crucial for patient and family management.
- Invasive methods like amniocentesis carry a miscarriage risk.
- Non-invasive prenatal diagnosis (NIPD) has significantly reduced invasive procedures since 2012.
Purpose of the Study:
- To review current and emerging technologies for NIPD of monogenic conditions.
- To highlight advancements in utilizing cell-free fetal DNA (cffDNA) for prenatal diagnostics.
- To discuss challenges and future directions in NIPD.
Main Methods:
- Analysis of cell-free fetal DNA (cffDNA) circulating in maternal blood.
- Application of various technologies for detecting paternally inherited and de novo pathogenic variants.
- Exploration of methods to overcome challenges in identifying maternally inherited variants.
Main Results:
- NIPD is clinically available for select monogenic conditions, utilizing cffDNA.
- Current technologies effectively detect paternally inherited and de novo variants.
- Detecting maternally inherited variants remains a significant challenge due to low cffDNA abundance.
Conclusions:
- NIPD has revolutionized prenatal diagnostics by offering a safer alternative to invasive testing.
- Further research is needed to expand NIPD for maternally inherited conditions.
- Advancements in technology promise broader NIPD applications in the future.
