![]() Compared with invasive detection methods, namely chorionic villi sampling and amniocentesis, which are the gold standards of prenatal diagnosis, plasma DNA deep sequencing decreases the risk of miscarriage or stillbirth. As cell-free fetal DNA was discovered to be present in maternal circulation, 2 noninvasive prenatal detection of fetal aneuploidies by massively parallel sequencing has become an important means for reducing this kind of birth defects. We recommend researchers or clinicians to use the appropriate chip with barcoding technology on the basis of the sample number.Ĭhromosomal aneuploidy disease represented by trisomy 21, which affects 1 in 800 neonates, 1 is a common class of genetic disorder. Our results showed that all Ion chips are applicable in noninvasive prenatal fetal aneuploidy diagnosis. All chips were well consistent with each other. All samples were correctly classified even with low-throughput chip, and, among the four chips, the 316 chip had the highest read mapped ratio, correlation coefficient, mean read length and phred quality score. Results such as read mapped ratio, correlation coefficient and phred quality score were calculated and parallelly compared. Eight maternal plasma DNA samples, including four pregnancies with normal fetuses and four with trisomy 21 fetuses, were sequenced on Ion Torrent 314/316/318/PI chips, respectively. We conducted a comparative analysis of the performance of four different Ion chips in detecting fetal chromosomal aneuploidies. It is commendable that, with less data and relevant cost also, an accurate result can be achieved owing to the high sensitivity and specificity of such kind of technology. Semiconductor high-throughput sequencing, represented by Ion Torrent PGM/Proton, proves to be feasible in the noninvasive prenatal diagnosis of fetal aneuploidies. ![]()
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December 2022
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