ABSTRACT
Although non-invasive prenatal testing (NIPT) is widely used to detect fetal abnormalities, the results of NIPT vary by population, and data for the screening efficiency of NIPT positive predictive value (PPV) from different populations is limited. Herein, we retrospectively analyzed the NIPT results in a large multicenter study involving 52,855 pregnant women. Depending on gestational age, amniotic fluid or umbilical cord blood was extracted for karyotype and/or chromosome microarray analysis (CMA) in NIPT-positive patients, and the PPV and follow-up data were evaluated to determine its clinical value. Among the 52,855 cases, 754 were NIPT-positive, with a positivity rate of 1.4%. Karyotype analysis and/or CMA confirmed 323 chromosomal abnormalities, with a PPV of 45.1%. PPV for trisomy 21 (T21), trisomy 18 (T18), trisomy 13 (T13), sex chromosomal aneuploidies (SCAs), and copy number variations (CNVs) were 78.9, 35.3, 22.2, 36.9, and 32.9%, respectively. The PPVs for T21, T18, and T13 increased with age, whereas the PPVs for SCAs and CNVs had little correlation with age. The PPV was significantly higher in patients with advanced age and abnormal ultrasound. The NIPT results are affected by population characteristics. NIPT had a high PPV for T21 and a low PPV for T13 and T18, and screening for SCAs and CNVs showed clinical significance in southern China.
ABSTRACT
The three-dimensional visualization model of human body duct is based on virtual anatomical structure reconstruction with duct angiography,which realizes virtual model transferred from two-dimensional,planar and static images into three-dimensional,stereoscopic and dynamic ones repectively.In recent years,the multi-duct segmentation and division of the same specimen (or organ) is the focus of attention shared by surgeons and clinical anatomists.On the basis of 4.22 g/cm3 body bone density,this study has screened out metal oxide contract agent with different density for infusion and modeling,as well as compared and analyzed the effects of three-dimensional image of CT virtual bronchoscopy (CTVB),three-dimensional image of CT maximum intensity projection and three-dimensional model.This experiment result showed synchronously infusing multi-duct of same specimen (or organ) with contrast agent in different densities could reconstruct three-dimensional models of all ducts once only and adjust threshold to develop single or multiple ducts.It was easier to segment and observe the duct structure,anastomosis,directions and crossing in different parts,which was beyond comparison with three-dimensional image of CTVB.Although the existing three-dimensional duct reconstruction techniques still cannot be applied in living bodies temporarily,this study focused on a creative design of ducts segmentation in different density,which proposed a new experimental idea for developing multi-duct three-dimensional model in living body in the future.It will play a significant role in disease diagnosis and individual design in surgical treatment program.Therefore,this study observes the three-dimensional status of human duct with the application of contrast agent fillers in different density,combined with three-dimensional reconstruction technology.It provides an innovative idea and method for constructing three-dimensional model of digital multi-duct specimen,and the ultimate goal is to develop the digitized virtual human and precise medical treatment better and faster.