2010年～2018年江阴地区新生儿疾病筛查情况分析

Analysis on neonatal screening in Jiangyin City from 2010 to 2018

目的研究2010年~2018年度江苏省江阴市新生儿疾病筛查情况。方法采用回顾性研究对2010年~2018年江阴市收集的新生儿足跟血检测先天性甲状腺功能减低症(CH)和苯丙酮尿症(PKU)的情况分析。结果 2010年~2018年共有177 095例新生儿进行疾病筛查,年筛查率均在98%以上,确诊新生儿甲状腺功能减低症(CH)患儿86例,确诊苯丙酮尿症(PKU)患儿20例。结论江阴市新生儿疾病筛查率较高,9年内共确诊新生儿先天性疾病共106例,通过早发现、早治疗以及后期的常规定期复查,可有效避免患儿恶性结果的发生。

Objective:To investigate results of screening for neonatal genetic metabolic diseases from 2010 to 2018 in Jiangyin city. Methods:By retrospective investigation,incidence of neonatal metabolic diseases(congenital hypothyroidism(CH),phenylketonuria(PKU))in collected heel blood of live births born on 2010 to 2018 was statistically analyzed. Results:A total of 177 095 newborns were screened in the year from 2010 to 2018. The number of people screened each year accounts for more than 98% of the live births. 86 and 20 newborns were diagnosed with congenital hypothyroidism and phenylketonuria,respectively. Conclusions:The screening rate of neonatal diseases in Jiangyin City is relatively high. A total of 106 congenital diseases of newborns were diagnosed within 9 years. Therefore,early screening for newborns is of great significance. it should actively carried out neonatal screening and strength education and notification.