A new approach of digital PCR system for non-invasive prenatal screening of trisomy 21
- Title
- A new approach of digital PCR system for non-invasive prenatal screening of trisomy 21
- Author
- 황승용
- Keywords
- Non-invasive prenatal screening; Digital PCR; Trisomy 21; Cell free DNA
- Issue Date
- 2018-01
- Publisher
- Elsevier BV
- Citation
- Clinica Chimica Acta, v. 476, Page. 75-80
- Abstract
- Background: Non-invasive prenatal screening (NIPS) of trisomy 21 (T21) using digital PCR (dPCR) with several advantages will be very effective. Here, we developed a dPCR system for T21 screening which allows high sensitivity and real-time diagnosis and thus overcome sequence based analysis. Methods: Cut-off value was established using DNA extracted from all 157 T21 negative samples including 47 pregnant woman samples and 3 T21 positive pregnant woman samples extracted from 4 different sample types. To increase the portion of the cell-free fetal DNA (cffDNA) in maternal cell-free DNA (cfDNA), a size selection method was devised. We evaluated the clinical reliability of NIPS using dPCR through analysis of 877 pregnant woman samples. Results: We could demonstrate the possibility of NIPS using dPCR performed by applying cut-off value and size selection method. The overall accuracy was derived at 99.66% using 877 pregnant woman plasma samples. Conclusion: Our results showed that dPCR can meet the requirements for NIPS for T21. It is relatively inexpensive, easy to use in a screening method and compatible with ethical concerns regarding access to nucleotide sequence information. This study may be a basic data for the development of population-wide screening for T21 in pregnant women.
- URI
- https://www.sciencedirect.com/science/article/pii/S000989811730459X?via%3Dihubhttps://repository.hanyang.ac.kr/handle/20.500.11754/181572
- ISSN
- 0009-8981;1873-3492
- DOI
- 10.1016/j.cca.2017.11.015
- Appears in Collections:
- COLLEGE OF SCIENCE AND CONVERGENCE TECHNOLOGY[E](과학기술융합대학) > ETC
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