In recent years, the application of the long read single-molecule sequencing technology in clinical genetics testing has been increasingly widespread. Due to its sequencing process not requiring amplification and its characteristic of single-molecule sequencing and long reads, it has unique advantages compared to traditional molecular genetics testing such as Sanger sequencing, next-generation sequencing and chromosomal microarray. In this article, its application in the detection of chromosomal structural abnormalities, monogenic diseases, and preimplantation genetic testing for monogenic diseases were discussed. Along with a comparative analysis of the advantages and disadvantages of the long read single-molecule sequencing technology in these areas compared to traditional molecular genetics testing techniques. This article preliminarily explores the application prospects and value of the long read single-molecule sequencing technology in clinical genetics testing.
ObjectiveTo study the relationship between clinical features of patients with phyllodes tumor of breast (PTB) and reccurence, distant metastasis, and prognosis.MethodsThe clinical data of 96 patients with PTB treated in this hospital from March 2011 to December 2018 were retrospectively analyzed. The correlation of clinical features with local recurrence and distant metastasis were analyzed by the Chi-square test and logistic regression. The Kaplan-Meier method was used to compute disease-free survival (DFS). The correlation of clinical features with prognosis was analyzed by the log-rank test and Cox regression.ResultsNinety-four patients with PTB showed the unilateral single nodule, 2 patients showed the bilateral nodule. The benign tumor had 36 patients, borderline tumor had 34 patients, malignant tumor had 26 patients. A total of 27 patients had local recurrence, 4 patients had distant metastasis, 4 patients died during the follow-up period. The 1-, 3-, and 5-year accumulate DFS rate was 81.2%, 64.9%, and 64.9%, respectively. The accumulate 5-year overall survival rate was 92.3%. The multivariate analysis showed that the age, types of tumor, and surgical method were related to the local recurrence (P<0.050), and no clinicopathological factors were found to be related to the distant metastasis (P>0.050). It was found that type of tumor was the independent factor affecting prognosis (P<0.050).ConclusionsFor PTB, the recurrence rate is higher, the age and tumor types are the independent recurrent factors. Surgical treatment is the primary management, extend resection and mastectomy are alternative operation.
Prenatal diagnosis, as one of the core components in the prevention and control of birth defects, is constrained by both “time sensitivity” and “data availability”. The diagnostic model driven by expert experience and manual interpretation can no longer meet the demands of rapidly evolving detection technologies, which generate massive, high-dimensional data. Additionally, issues such as delayed professional training and regional development imbalances further hinder the overall improvement of prenatal diagnosis efficacy. This article systematically elaborates on typical application scenarios of artificial intelligence-assisted prenatal diagnosis from two core aspects: the intelligent optimization of diagnostic technologies and the standardization of institutional and personnel management. It also explores the potential of emerging intelligent technologies like federated learning and digital twins, aiming to promote the transformation and upgrading of the prenatal diagnosis field from standardization and normalization toward precision and systematic high-quality development.