Digital PCR: a powerful new tool for noninvasive prenatal diagnosis?
نویسندگان
چکیده
Recent reports have indicated that digital PCR may be useful for the noninvasive detection of fetal aneuploidies by the analysis of cell-free DNA and RNA in maternal plasma or serum. In this review we provide an insight into the underlying technology and its previous application in the determination of the allelic frequencies of oncogenic alterations in cancer specimens. We also provide an indication of how this new technology may prove useful for the detection of fetal aneuploidies and single gene Mendelian disorders.
منابع مشابه
Digital PCR for noninvasive detection of aneuploidy: power analysis equations for feasibility.
OBJECTIVE To determine the feasibility of digital PCR analysis for noninvasive prenatal diagnosis of trisomy 21. METHODS Through power equations, we modeled the number of wells necessary to determine the feasibility of digital PCR as a practical method for trisomy 21 risk assessment. RESULTS The number of wells needed is a direct correlate of the ability to isolate free fetal DNA. If a 20% ...
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BACKGROUND The discovery of circulating cell-free fetal nucleic acids in maternal plasma has opened up new possibilities for noninvasive prenatal diagnosis. The potential application of this technology for the noninvasive prenatal detection of fetal chromosomal aneuploidies is an aspect of this field that is being actively investigated. The main challenge of work in this area is the fact that c...
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ورودعنوان ژورنال:
- Prenatal diagnosis
دوره 28 12 شماره
صفحات -
تاریخ انتشار 2008