Objective To summarizethe status of screening of developmental dysplasia of the hip ( DDH ) in infants and young children 0 - 36 months of age and to generate a standardized process for DDH screening in infants and young children.Methods Preliminary DDH screening was carried out by obstetricians for newborns, and by pediatricians for infants and young children 0 - 36 months inpatients in ward, and by pediatric surgeon for infants and young children 0 - 36 months of age outpatient. Secondary screening was performed by pediatric orthopedic surgeons. In addition, ultrasound or radiograph examination of bilateral hip joints was performed. Suspected cases were followed up regularly until patients were diagnosed with DDH or excluded.Results From January 2012 to December 2014, 22 396 infants and young children were screened at the First Afifliated Hospital of Zhengzhou University, Zhengzhou, China. Ultrasound examination was performed for 2669 patients, 591 of whom ( 775 hips ) with suspected and abnormal ifndings were transferred to the Department of Pediatric Orthopedics. Among the referrals, a positive Ortolani or Barlow test was observed in 61 patients ( 89 hips ). Anteroposterior hip radiography showed acetabular dysplasia in 94 cases ( 131 hips ). Finally, 76 patients ( 121 hips ) were diagnosed with DDH. Among them, 21 ( 29 hips ) were males and 55 ( 92 hips ) were females. The left side was involved in 91 hips, and the right side was involved in 30 hips. Thirteen cases ( including 3 newborns ) were 1 - 6 months old ( 1.95‰, 13 / 6676 ), 49 cases were 7 - 18 months old ( 7.09‰, 49 / 6909 ), and 14 cases were 19 - 36 months old ( 1.59‰, 14 / 8811 ). Among the 76 cases of DDH, 49 ( 64.47% ) were 7 - 18 months old. The incidence of hip dysplasia was 3.39‰ ( 76 / 22 396 ).Conclusions During the present study, we screened infants and young children 0 - 36 months old for early detection and diagnosis of DDH and generated a standardized screening process based on the actual status of patients in our district.

第五届亚太地区新生儿疾病筛查国际学术研讨会概述

第五届亚太地区新生儿疾病筛查国际学术研讨会(The 5th Asia Pacific Regional Meeting of the International Society for Neonatal Screening),于2004年9月14～17日在上海召开.本届研讨会的主题是"新生儿疾病筛查-从实验室到社会".从新生儿疾病筛查的法规、管理、筛查、诊断、治疗、新技术、质量控制等多方面进行了深入的交流,内容丰富,涵盖了新生儿疾病筛查各个领域.

上海地区遗传代谢病的新生儿筛查

Objectives Inborn errors of metabolism (IEM) has a diverse spectrum and different incidence in different countries, the early diagnosis at presymptomatic stage is imperative to benefic patient from sequelae. Phenylke-tonuria (PKU) / hyperphenylalaninemia (HPA) is the most common metabolism disorder in Shanghai as well as in other regions. The study is to further clarify the incidence of inborn errors of metabolism among newborn in Shanghai. Methods The dried blood spot specimens were collected from near 90 local maternity and children's hospitals or general hospitals in Shanghai. PKU/HPA screening was carried out by fluorometric method. Neonatal screening using tandem mass spectrometry was performed in one of the study centers, Xinhua neonatal screening center. Results A total of 815 160 cases were screened from 2001 - 2007 in Shanghai, the incidence of PKU/HPA was 1 : 12 351. The tetrahydrobiopterin deficiency was 12.9% among hyperphenylalaninemia patients. According to the 116 000 neonatal samples data detected by tandem mass spectrometry, 20 cases were confirmed diagnosis, including 6 kinds diseases, it was PKU/HPA, maple syrup urine disease, methylmalonicacidemia, propionic acidemia, 3-methylcrotonyl-CoA carboxylase defection, and short chain aeyl-CoA dehydrogenase deficiency. Conclusions The pilot study shown that inborn errors of metabolism neonatal screen-ing using tandem mass was 1 : 5 800 in Shanghai, PKU/HPA was the most common disease. It is expected that the expansion of newborn screening using tandem mass spectrometry could be further considered and further improving inborn errors of metabolism preventive services in Shanghai.