标题：珠海市2007—2019年新生儿先天性甲状腺功能减低症与苯丙酮尿症筛查结果分析

      作者：汪国庆，赵军，谭功军，周玉球    珠海市妇幼保健院新生儿遗传代谢病筛查中心，广东 珠海 519000

      卷次： 2022年33卷14期

      【摘要】 目的 了解珠海市新生儿先天性甲状腺功能减低症(CH)与苯丙酮尿症(PKU)的发病率，并总结筛查经验。方法 采集珠海市2007—2019年新生儿出生后72 h并充分哺乳的新生儿足跟血，滴于S&S903滤纸上制成血片。CH筛查采用时间分辨荧光免疫分析法检测血片中促甲状腺素(TSH)的水平，PKU筛查采用荧光法检测血片中苯丙氨酸(Phe)的浓度。结果 2007—2019年，珠海市共筛查新生儿367 429名，筛查率由2007年的76.6%提高至2019年的99.0%，可疑CH患儿召回率由2007年的68.3%提高至 2019年的92.0%，可疑PKU患儿召回率由2007年的56.5%提高至2019年的87.2%，共确诊CH 195例，发病率为1∶1 884；PKU 11例，发病率为1∶33 403。结论 珠海市新生儿CH发病率高于全国平均水平；PKU发病率低于全国平均水平。新生儿疾病筛查是降低出生缺陷的有效措施之一，加强新生儿疾病筛查的宣教工作，提高筛查率和召回率，可以有效减少残疾儿的发生。
      【关键词】 珠海市；新生儿筛查；先天性甲状腺功能低下症；苯丙酮尿症
      【中图分类号】 R722.19 【文献标识码】 A 【文章编号】 1003—6350（2022）14—1832—04

Screening analysis of congenital hypothyroidism and phenylketonuria in newborns from 2007 to 2019 in Zhuhai.WANG Guo-qing, ZHAO Jun, TAN Gong-jun, ZHOU Yu-qiu.
Zhuhai Maternity and Child Healthcare Hospital, Zhuhai519000, Guangdong, CHINA
【Abstract】 Objective To retrospectively analyze the screening results of congenital hypothyroidism (CH) andphenylketonuria (PKU) in neonates from 2007 to 2019 in Zhuhai city, to understand the local incidence of CH and PKUin Zhuhai city and to summarize the screening experience. Methods The heel blood of newborns who were fullybreast-fed for 72 h after birth was collected and dripped on S&S903 filter paper to make blood tablets. CH screening wasconducted based on the level of thyrotropin (TSH) in blood tablets detected by time-resolved fluorescence immunoassay,and PKU screening was performed by testing the concentration of phenylalanine (Phe) in blood tablets with fluorescenceassay. Results From January 2007 to December 2019, a total of 367 429 neonates were screened, and the screening rateincreased from 76.6% in 2007 to 99.0% in 2019. The recall rate of children with suspected CH increased from 68.3% in2007 to 92.0% in 2019, and the recall rate of children with suspected PKU increased from 56.5% in 2007 to 87.2% in2019. A total of 195 cases of CH were confirmed, with an incidence of 1∶1 884, and 11 cases of PKU were confirmed,with an incidence of 1∶33 403. Conclusion The incidence of CH in newborns in Zhuhai was higher than the nationalaverage. The incidence of PKU was lower than the national average. Neonatal disease screening is one of the effectivemeasures to reduce birth defects. Strengthening the publicity and education of neonatal disease screening and increasingthe screening rate and recall rate can effectively reduce the occurrence of disabled children.
      【Key words】 Zhuhai; Neonatal disease screening; Congenital hypothyroidism; Phenylketonuria