Bill CH Chang, Takol Chareonsirisuthigul, Pareena Janchompoo, Chutatip Srichunrusami, Ekawat Pasomsub, Thipparat Nasrisuk, Insee Sensorn, Panyu Panburana and Wasun Chantratita
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.