Objectives: To detect trisomy 21, 18, and 13 in 190,277 clinical
samples from the medical diagnostic laboratories of ten hospitals.
Methods: The study assessed the clinical performance of non-invasive
prenatal testing (NIPT) in detecting trisomy 21, 18, and 13 in 190,277 clinical
samples using semiconductor sequencing technology.
Results: NIPT participants were at a mean gestation of 17.79 weeks (range,
9–36) and age of 31.12 years (range, 18–46) at the time of testing on
average. There were 1,543 (0.81%) positive cases, including 1050 for
trisomy 21, 316 for trisomy 18, and 177 for trisomy, 13. The overall
sensitivity and specificity for detecting trisomy 21, 18 and 13 combined were 99.61% and
99.91% respectively, and the overall positive predictive value and negative predictive value
(PPV and NPV) were 89.74% and 99.99%, respectively.
Conclusions: This was the first large clinical study for semiconductor sequencing
technologies in NIPT application. Our findings indicate that NIPT has the potential to replace
serum biochemistry screening and could be performed at the early gestational age of 9~12