1.Some Thoughts On "Cybermedicine"From Ethical Perspective
Chinese Medical Ethics 1995;0(04):-
The combination of medical activties have their obvious characteristics respectively. This article puts forward some basic ethical principles Cybermedicine must abide by through analyzing some ethical problems existing in Cybermedicine.
2.Whole exome sequencing analysis of 37 fetuses with cardiac abnormalities
Xiayuan XU ; Fenglei YE ; Jun ZHANG ; Keqin JIN ; Qian SHEN ; Shuangshuang SHEN ; Fan JIN
Chinese Journal of Medical Genetics 2024;41(8):903-908
Objective:To explore the genetic etiology of fetuses with congenital heart disease (CHD) through whole exome sequencing (WES).Methods:Thirty seven fetuses identified with CHD by prenatal ultrasonography but with negative results by chromosomal microarray analysis (CMA) at Jinhua Maternal and Child Health Care Hospital from January 2020 to June 2022 were selected as the study subjects, for whom WES was carried out.Results:WES and Sanger sequencing had detected 6 pathogenic or likely pathogenic variants, and 6 variants with unknown clinical significance. The variants had involved 15 loci within 11 genes, in addition with one copy number variation.Conclusion:WES can increase the detection rate for genetic abnormalities among fetuses with CHD, which can facilitate the prenatal diagnosis, evaluation of prognosis and genetic counseling for the couples.