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At 17+4 week, non-invasive prenatal testing (NIPT) results of a 24-years-old mother showed high risk of monosomy X (45, X). Abnormally shaped head and cardiac defects were observed in prenatal ultrasound scan at 19+3 week. Amniocentesis conducted at 19+3 week identified karyotype 47, XX, +18, which suggested that the NIPT failed to detect trisomy 18 (T18)(More)
BACKGROUND Neonatal mortality reduction in China over past two decades was reported from nationwide sampling surveys, however, how high risk pregnancy affected neonatal outcome is unknown. The objective of this study was to explore relations of pregnancy complications and neonatal outcomes from a regional birth population. METHODS In a prospective,(More)
OBJECTIVE To describe the status of serum 25-hydoxyvitamin D [25(OH)D] concentrations and identify the relationship between 25(OH)D and bone mineral density (BMD). In an effort to explore the appropriate definition of vitamin D (VD) deficiency in 0-7 year old children. RESULTS The median serum 25(OH)D concentrations was 62.9 nmol/L and 28.9% of the(More)
With an annual birth rate of 12‰, or 16 millions, of all population (1.34 billions), and an implementation of universal healthcare policy for all rural residents in recent years, China is undergoing a dramatic and profound transition in perinatal and neonatal healthcare as a part of the global campaign for reduction in mortality of children under 5 years(More)
OBJECTIVE To introduce the Ages and Stages Questionnaires, Third Edition (ASQ-3), to China, created ASQ-Chinese (ASQ-C) and carried out studies of its national norm and the psychometrical properties in the children aged 1-66 months in the mainland of China in collaboration with the author of the ASQ System and under the authorizations from its publisher on(More)
AIM This Chinese study assessed partial pressure of exhaled nitric oxide (PeNO) in healthy Tibetan and non-Tibetan newborn infants born at a very high altitude. METHODS Full-term Tibetan and non-Tibetan neonates born in Lhasa, 3658 metres above sea level, were compared to non-Tibetan neonates born in Kunming (1891 m) and Huai'an (16 m). The(More)
OBJECTIVE To determine the prevalence, treatment, and outcomes of sepsis at regional hospitals in Huai'an, Jiangsu, China. DESIGN Prospective data registry using a descriptive clinical epidemiologic approach through a collaborative network. SETTING Pediatric departments in 11 regional city and county referral hospitals serving 843,000 children(More)
Complex chromosome rearrangements (CCRs), which are rather rare in the whole population, may be associated with aberrant phenotypes. Next-generation sequencing (NGS) and conventional techniques, could be used to reveal specific CCRs for better genetic counseling. We report the CCRs of a girl and her mother, which were identified using a combination of NGS(More)
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