Noninvasive prenatal testing of hereditary colorectal cancer syndromes using cell‐free DNA in maternal plasma

Abstract

Objective This study aimed to establish a practical protocol for early noninvasive prenatal testing (NIPT) for fetuses at risk of Peutz‐Jeghers syndrome or familial adenomatous polyposis, two classical types of hereditary colorectal cancer syndromes, for risk evaluation and whole‐life monitoring. Method Target enrichment was performed using hybridization probes coordinating the serine‐threonine kinase 11 gene region and APC gene region, with 1458 highly heterozygous Single Nucleotide Polymorphisms included. Semitarget amplification random sequencing was used for large fragment deletion detection. For relative haplotype dosage (RHDO) analysis, haplotype construction was performed by segmented haplotype estimation and imputation tool software, the circular binary segmentation algorithm was used for recombination event calculation, and Bayes factor was used for the determination of whether the fetus was affected. Results Haplotypes were successfully constructed in the nine recruited families with different pedigree characteristics, and the results for the RHDO analysis were consistent with the amniocentesis sampling detection results. The cell‐free fetal DNA fraction can be detected as low as 2% in maternal plasma. Conclusion This is the first NIPT assay on hereditary colorectal cancer syndromes based upon RHDO analysis.

Traffic flow detection method based on improved SSD algorithm for intelligent transportation system

“…Accurate vehicle recognition and detection is the initial step of video image traffic flow detection algorithms. One of the research highlights in the intelligent transportation is vehicle detection, which is a key foundation for achieving technologies such as traffic flow detection and autonomous driving [ 23 , 24 ]. However, in complex actual traffic environments, due to the vehicle distance under the camera’s perspective, the detection performance of small scale vehicles in the distance is usually poor, which is also a major challenge in the object detection [ 25 ].…”