This week in techniques



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Assays & screens

Semiconductor sequencing platform (SSP) for noninvasive diagnosis of incorrect chromosome numbers

A benchtop SSP could help carry out noninvasive prenatal diagnosis of incorrect chromosome numbers using cell-free fetal DNA from maternal plasma. In retrospective karyotyping of 515 pregnant subjects, SSP identified trisomy 21, 18 and 13 with 99.94%-100% sensitivity and 99.46%-100% specificity, and it detected sex chromosome aneuploidies in 15 fetuses. In prospective karyotyping of 1,760 pregnancies, SSP identified 9 cases of trisomy 21, 3 cases each of trisomy 18 and 13, and 1 case of sex chromosome aneuploidy. Next steps include testing SSP on single-gene mutations.
The study was performed in partnership with iGenomics Co. Ltd.

SciBX 7(22); doi:10.1038/scibx.2014.654
Published online June 5, 2014

Patent and licensing status undisclosed; iGenomics commercializing the technology and diagnostic

Liao, C. et al. Proc. Natl. Acad. Sci. USA; published online May 5, 2014;
Contact: Kang Zhang, University of California, San Diego, La Jolla, Calif.