Journal of Korean medical science
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J. Korean Med. Sci. · Jun 2019
Clinical Validation of Non-Invasive Prenatal Testing for Fetal Common Aneuploidies in 1,055 Korean Pregnant Women: a Single Center Experience.
Non-invasive prenatal testing (NIPT) using cell-free fetal DNA from maternal plasma for fetal aneuploidy identification is expanding worldwide. The objective of this study was to evaluate the clinical utility of NIPT for the detection of trisomies 21, 18, and 13 of high-risk fetus in a large Korean population. ⋯ This study demonstrates that our NIPT technology is reliable and accurate when applied to maternal DNA samples collected from pregnant women. Further large prospective studies are needed to adequately assess the performance of NIPT.
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J. Korean Med. Sci. · Jun 2019
Clinical Factors Associated with Obstructive Coronary Artery Disease in Patients with Out-of-Hospital Cardiac Arrest: Data from the Korean Cardiac Arrest Research Consortium (KoCARC) Registry.
Although coronary artery disease (CAD) is a major cause of out-of-hospital cardiac arrest (OHCA), there has been no convinced data on the necessity of routine invasive coronary angiography (ICA) in OHCA. We investigated clinical factors associated with obstructive CAD in OHCA. ⋯ In patients with OHCA, those with old age, hypertension, positive cardiac enzyme and initial shockable rhythm were associated with obstructive CAD. Early ICA should be considered in these patients.
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J. Korean Med. Sci. · Jun 2019
Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases.
Because of genetically and phenotypically heterogenous features, identification of causative genes for inherited retinal diseases (IRD) is essential for diagnosis and treatment in coming gene therapy era. To date, there are no large-scale data of the genes responsible for IRD in Korea. The aim of this study was to identify the distribution of genetic defects in IRD patients in Korea. ⋯ This study provided the distribution of genetic mutations responsible for causing IRD in the Korean patients. This data will serve as a reference for future genetic screening and treatment for Korean IRD patients.