56425例新生儿疾病筛查四项结果分析  

Result analysis of four items for newborn disease screening in 56425 cases of newborns

作　　者：沃静芝 董艺 李桦 吴雯雯 杨文斐 Wo Jingzhi;Dong Yi;Li Hua;Wu Wenwen;Yang Wenfei(Newborn Disease Screening Laboratory,Ningde Maternal and Child Health Hospital,Ningde 352100,Fujian,China)

机构地区：[1]宁德市妇幼保健院新生儿疾病筛查实验室,福建宁德352100

出　　处：《实用检验医师杂志》2024年第3期257-260,共4页Chinese Journal of Clinical Pathologist

摘　　要：目的分析福建省宁德市56425例新生儿疾病筛查四项结果。方法收集2020—2021年在福建省宁德市分娩的新生儿的临床资料,所有新生儿于出生72 h后采集足跟血滴于特殊滤纸上,采用荧光分析法检测促甲状腺激素(TSH)、苯丙氨酸(PHe)、葡萄糖-6-磷酸脱氢酶(G6PD)、17-羟孕酮(17-OHP);对先天性甲状腺功能减低症(CH)、苯丙酮尿症(PKU)、G6PD缺乏症、先天性肾上腺皮质增生症(CAH)进行筛查,对阳性可疑病例进行诊断;比较宁德市新生儿疾病筛查四项结果。结果2020—2021年总活产数56771例,共筛查新生儿56425例。2020年的城市和农村总筛查率显著低于2021年,差异有统计学意义〔99.26%(30381/30606)比99.54%(26044/26165),P<0.05〕,且2020年和2021年的农村筛查率均显著高于城市,差异均有统计学意义。56425例新生儿中TSH弱阳性4046例,弱阳性率为7.171%,阳性114例,阳性率为0.202%,确诊89例,发病率为0.158%;PHe弱阳性44例,弱阳性率为0.078%,阳性2例,阳性率为0.004%,确诊15例,发病率为0.027%;G6PD缺乏症弱阳性946例,弱阳性率为1.677%,阳性902例,阳性率为1.599%,确诊898例,发病率为1.591%;17-OHP弱阳性374例,弱阳性率为0.663%,阳性4例,阳性率为0.007%,确诊1例,发病率为0.002%。新生儿疾病筛查四项结果显示,确诊疾病的总人数为1003例,其中确诊为CH 89例,PKU 15例,G6PD缺乏症898例,CAH 1例。结论新生儿疾病筛查是早期诊断CH、PKU、G6PD缺乏症、CAH的有效措施,对降低出生人口缺陷,提高出生人口质量具有重要意义。Objective To analyze the results of four items for newborn disease screening in 56425 cases of newborns in Ningde City,Fujian Province.Methods The clinical data of newborns delivered in Ningde City,Fujian Province from 2020 to 2021 were collected.After 72 hours of birth,heel blood samples from all newborns were collected on special filter paper and the levels of thyroid stimulating hormone(TSH),phenylalanine(PHe),glucose-6-phosphate dehydrogenase(G6PD)and 17-α-hydroxy progesterone(17-OHP)were detected using fluorescence analysis.Congenital hypothyroidism(CH),phenylketonuria(PKU),G6PD deficiency and congenital adrenal hyperplasia(CAH)were screened,and suspected positive cases were diagnosed.The results of four items for newborn disease screening in Ningde City were compared.Results The total number of live births from 2020 to 2021 was 56771,with a total of 56425 newborns screened.The overall screening rate in urban and rural areas in 2020 was lower than that in 2021,with a statistically significant difference[99.26%(30381/30606)vs.99.54%(26044/26165),P<0.05],and the screening rates in rural areas were higher than those in urban areas in both 2020 and 2021,with statistically significant differences.Among 56425 cases of newborns,4046 cases were weakly positive for TSH,the weakly positive rate was 7.171%;114 cases were positive,the positive rate was 0.202%;and 89 cases were diagnosed,the incidence rate was 0.158%.The 44 cases were weakly positive for PHe,the weakly positive rate was 0.078%;2 cases were positive,the positive rate was 0.004%;and 15 cases were diagnosed,the incidence rate was 0.027%.The 946 cases of G6PD deficiency were weakly positive,the weakly positive rate was 1.677%;902 cases were positive,the positive rate was 1.599%;and 898 cases were diagnosed,the incidence rate was 1.591%.The 374 cases were weakly positive for 17-OHP,the weakly positive rate was 0.663%;4 cases were positive,the positive rate was 0.007%;1 case was diagnosed,and the incidence rate was 0.002%.The results of four items for newborn

关 键 词：新生儿筛查四项 促甲状腺激素 苯丙氨酸 葡萄糖-6-磷酸脱氢酶 17-羟孕酮 

分 类 号：R722.1[医药卫生—儿科]