The clinical performance of non-invasive prenatal testing (NIPT) in the Down's syndrome screening based on 1,901 pregnant women in a Chinese hospital was investigated. This was a retrospective analysis of NIPT study in singleton pregnancy (n=1,901). The NIPT test is offered routinely as a prenatal screening test for common fetal aneuploidies, including trisomy 13 (T13), T18 and T21 to pregnant women with risk factors of one or more anomalies. Maternal peripheral blood (5 ml) was collected in an ethylenediaminetetraacetic acid (EDTA) tube at a gestational age of 12+0 to 32+6 weeks. The samples were delivered at -80°C to the certified Shenzhen BGI Clinical Laboratory Center. Sequencing data were analyzed using a proprietary algorithm. Women with positive NIPT results were recommended to receive karyotype analysis and amniotic fluid puncture for further validation. The cases were followed up for 56 days after delivery. All the patients underwent ultrasound examination, and the majority of patients (91.16

作者：Rong, Qiang；Na, Cai；Xiaobin, Wang；Lin, Wang；Ke, Cui；Wei, Wang；Xiang, Wang；Xu, Li

来源：Experimental and therapeutic medicine 2017 年 13卷 5期