Detection of Aneuploidy with Digital PCR
نویسندگان
چکیده
The widespread use of genetic testing in high risk pregnancies has created strong interest in rapid and accurate molecular diagnostics for common chromosomal aneuploidies. We show here that digital polymerase chain reaction (dPCR) can be used for accurate measurement of trisomy 21 (Down’s Syndrome), the most common human aneuploidy. dPCR is generally applicable to any aneuploidy, does not depend on allelic distribution or gender, and is able to detect signals in the presence of mosaics or contaminating maternal DNA.
منابع مشابه
Microfluidic digital PCR enables rapid prenatal diagnosis of fetal aneuploidy.
OBJECTIVE The purpose of this study was to demonstrate that digital polymerase chain reaction (PCR) enables rapid, allele independent molecular detection of fetal aneuploidy. STUDY DESIGN Twenty-four amniocentesis and 16 chorionic villus samples were used for microfluidic digital PCR analysis. Three thousand and sixty PCR reactions were performed for each of the target chromosomes (X, Y, 13, ...
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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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