Chromosomal microarray (CMA) is recommended as a first tier investigation for patients with developmental delay (DD), intellectual disability (ID), autistic spectrum disorder (ASD), and multiple congenital anomalies (MCA). It is widely used in the prenatal and postnatal settings for detection of chromosomal aberrations. This is a retrospective review of all array comparative genomic hybridization (aCGH/ array CGH) findings ascertained in two major prenatal and postnatal genetic diagnostic centers in Hong Kong from June 2012 to December 2017. Medical records were reviewed for cases with pathogenic and variants of uncertain clinical significance (VUS). Classification of copy number variants (CNVs) was based on current knowledge and experience by August 2018. The aims of this review are to study the diagnostic yield of array CGH application in prenatal and postnatal settings in Hong Kong and to describe the spectrum of abnormalities found. Prenatal indications included abnormal ultrasound findings, positive Down syndrome screening, abnormal noninvasive prenatal test results, advanced maternal age and family history of chromosomal or genetic abnormalities. Postnatal indications included unexplained DD, ID, ASD, and MCA. A total of 1,261 prenatal subjects and 3,096 postnatal patients were reviewed. The prenatal diagnostic yield of pathogenic CNV and VUS (excluding those detectable by karyotype) was 3.5%. The postnatal diagnostic yield of pathogenic CNV was 15.2%. The detection rates for well-defined microdeletion and microduplication syndromes were 4.6% in prenatal and 6.1% (1 in 16 index patients) in postnatal cases, respectively. Chromosomes 15, 16, and 22 accounted for over 21 and 25% of pathogenic CNVs detected in prenatal and postnatal cohorts, respectively. This review provides the first large scale overview of genomic imbalance of mostly Chinese patients in prenatal and postnatal settings.
Consumer safety has become an increasingly salient issue for China's rising middle class and regulatory state. This article elucidates the challenges of regulatory development in China through a study of food safety regulation, paying special attention to a scandal involving the sale of fake and substandard milk powder. It highlights some of the deficiencies of the regulatory regime and addresses some salient issues concerning regulatory state building, including the regulatory chasm between urban and rural areas, the appropriate role of the state in socioeconomic regulation, the uncertainties created by government reforms, and the conflict between food safety and employment.
The Chinese health care system has experienced profound changes in recent decades, including the retrenchment of government financial support. These changes and their subsequent adverse impacts have prompted the Chinese media and some academics to suggest that patients have a relatively low level of trust in physicians in China today. As the first step in exploring the state of patient trust in physicians in public hospitals in urban China, and its determinants, we conducted a survey of 434 patients from 26 public hospitals in urban Beijing between December 2009 and January 2010. Conducted by the Horizon Research Group, our survey asked the patient respondents how they viewed the physicians they were currently seeing, focusing on the following dimensions of trust: physician agency, technical competence, interpersonal competence, and information provided by physicians. Our survey results show a relatively high level of patients' trust in their physicians. Moreover, our in-patient respondents reported a higher level of trust than out-patient respondents with regard to physician agency, interpersonal competence and information provision. Regression analyses also find that patients' self-reported health status, the level of public hospitals from which they received treatment, the duration of their illness, and the frequency of exposure to negative media reports of physicians and hospitals are important determinants of patients' trust in physicians.
Our main finding is that the development of e-health in the region is less advanced than might be expected. Our explanation focuses on institutional, cultural and financial factors.
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