Abstract
The clinical relevant of prenatal genetic screening is rapidly increasing in Thailand. This study aims to set up the very first next generation sequencing (NGS) laboratory for NIPT in a Thai hospital using the Ion Torrent platform. The inter-laboratory validation was carried out with Yourgene Bioscience laboratory. The sensitivities and specificities of the test are over 99.9% for Trisomy-13, Trisomy-18, Trisomy-21, and chromosome X aneuploidies. The positive predictive value of the tests are 83.3%, 91.4%, 95.1%, and 74.2% respectively. Nevertheless, this study demonstrates that a reference database drawn from as few as 100 samples is effective for over 500 new samples.
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