New sequencing platform for fetal genetic testing

New sequencing platform for fetal genetic testing

Dhaka – May 11, 2014. In an article entitled, ‘Noninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencing’ published in May 5, 2014, issue of PNAS (doi: 10.1073/pnas.1321997111), the lead author Can Liao with eighteen associates from nine different research Institutes reported a semiconductor-based DNA sequencing platform that might help increase the speed and reduce the cost of fetal genetic testing. Recent methods based on massively parallel sequencing have boosted rapid, noninvasive prenatal genetic testing for chromosomal copy number abnormalities called aneuploidies through the analysis of cell-free, circulating fetal DNA in maternal plasma. In the present study, they developed a semiconductor-based bench-top sequencing platform to obtain 5 billion data points per second in 2-4 hours, thus increasing the efficiency of rapid, portable, and cost-effective prenatal diagnosis for fetal aneuploidies. The authors validated the sequencing platform by testing its diagnostic sensitivity and specificity on 515 pregnant women at two hospitals in China for whom aneuploidy data were derived previously through karyotyping. The authors report that the platform identified all 55 cases of Down syndrome, 16 cases of Edward syndrome, and three cases of Patau syndrome with specificity and sensitivity between 99% and 100%. Further, the method helped identify 15 fetuses with aneuploid sex chromosomes. Next, the authors applied the platform to 1,760 pregnant women without karyotype data, and detected 15 cases of Down, Edward, or Patau syndromes, and one case of X chromosome aneuploidy. According to the authors, the platform might pave the way toward reducing the time and cost of sensitive and specific prenatal genetic diagnosis in clinics. [summarized by Samsad Razzaque, a graduate student at the Plant Biotech lab., DU]

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