Digital PCR and its applications in noninvasive prenatal testing
Yue-Qi Li1, Gong-Jun Tan1, Yu-Qiu Zhou1
1Clinical Laboratory & Zhuhai Institute of Medical Genetics, Zhuhai Centre for Maternity and Child Healthcare & Zhuhai Women and Children's Hospital, Zhuhai City, Guangdong Province, China.
Briefings in Functional Genomics
|August 4, 2022
Summary
Digital PCR (dPCR) offers accurate nucleic acid quantification for noninvasive prenatal testing (NIPT). This review explores dPCR
Area of Science:
- Molecular Biology
- Genetics
- Clinical Diagnostics
Background:
- Digital PCR (dPCR) is an advanced nucleic acid absolute quantification technology.
- dPCR offers superior accuracy and inhibitor tolerance compared to quantitative real-time PCR (qPCR).
Purpose of the Study:
- To review the application of dPCR in noninvasive prenatal testing (NIPT).
- To focus on dPCR's progress in screening fetal chromosome aneuploidies and monogenic mutations.
Main Methods:
- Review of common dPCR strategies used in NIPT.
- Comparative analysis of dPCR against qPCR and next-generation sequencing (NGS).
Main Results:
- dPCR provides reproducible and accurate results for absolute quantification in NIPT.
- Analysis of advantages and disadvantages of various dPCR methods in clinical settings.
Conclusions:
- dPCR shows significant potential for improving NIPT accuracy.
- Combining dPCR with other molecular techniques can enhance prenatal diagnostic strategies.
