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FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Non-invasive prenatal diagnosis by single molecule counting technologies
Rossa W K Chiu1, Charles R Cantor, Y M Dennis Lo
1Centre for Research into Circulating Fetal Nucleic Acids, Li Ka Shing Institute of Health Sciences, Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, 30-32 Ngan Shing Street, Shatin, New Territories, Hong Kong SAR, China.
Trends in Genetics : TIG
|June 23, 2009
Summary
Non-invasive prenatal diagnosis using fetal DNA in maternal plasma is now more achievable. Advanced methods like digital PCR and sequencing overcome background DNA challenges for diagnosing fetal conditions.
Area of Science:
- Genetics
- Molecular Biology
- Prenatal Diagnostics
Background:
- Analyzing fetal DNA in maternal plasma for prenatal diagnosis is challenging due to maternal DNA interference.
- Previous methods were limited in accurately detecting fetal genetic conditions.
Purpose of the Study:
- To explore advanced single molecule counting methods for non-invasive prenatal diagnosis.
- To assess the feasibility of diagnosing fetal chromosomal aneuploidies and monogenic diseases from maternal plasma.
Main Methods:
- Utilized digital PCR for digital mutation dosage assessment.
- Employed massively parallel plasma DNA sequencing for aneuploidy detection.
Main Results:
- Digital PCR accurately quantifies mutant alleles for monogenic disease diagnosis.
- Massively parallel sequencing directly detects fetal chromosomal aneuploidies from maternal plasma.
Conclusions:
- Single molecule counting methods significantly improve sensitivity, specificity, accuracy, and precision.
- These advanced techniques are poised to enable routine clinical use of non-invasive prenatal diagnosis.
