长沙地区2016—2018年新生儿疾病筛查结果回顾性分析

Retrospective Analysis of Neonatal Diseases Screening in Changsha From 2016 to 2018

目的通过对长沙地区2016—2018年新生儿先天性甲状腺功能减低症(Congenital hypothyroidism,简称CH)和苯丙酮尿症(phenylketonuria,简称PKU)筛查结果的回顾性分析,了解长沙市新生儿疾病筛查的情况,为进一步提高新生儿疾病的筛查质量及干预措施提供依据。方法选取2016—2018年长沙市203065例接受先天性甲状腺功能减低症(CH)和苯丙酮尿症(PKU)筛查的新生儿,于出生后72 h后采足跟血制成滤纸干血片。促甲状腺激素(thyroidstimulating hormone,简称TSH)检测采用时间分辨免疫荧光法,苯丙氨酸(Phenylalanine,简称Phe)检测采用荧光苯丙氨酸脱氢酶法。TSH检测值≥8 mIU/L或Phe检测值≥2.0 mg/dL的新生儿视为可疑阳性患儿,召回复查并进一步确诊。结果3年来,共计筛查新生儿203065例,筛查率达到97.40%,筛查率逐年递增,其中确诊CH患儿163例,发病率是1/1246,PKU患儿8例,发病率是1/25383。结论新生儿疾病筛查是出生缺陷三级预防的重要环节,通过筛查及时检出患儿并及时治疗,可避免或减轻体格、智力发育落后,提高人口素质,减轻家庭和社会的负担。

Objective To retrospectively analyse the neonatal screening for phenylketonuria(PKU)and congenital hypothyroidism(CH)in Changsha from 2016 to 2018,to understand the situation of neonatal screening,in order to further improve the quality of neonatal screening,and to provide a reference for interventions.Methods 203065 newborns were chosen to receive the detection of PKU and CH.In each infant a heel prick blood sample was collected at 72 hours postnatal onto standard filter paper.TSH was detected by time-resolved immunofluorescence,and Phe was detected by fluorescence phenylalanine dehydrogenase.Newborns with TSH test value≥8 mIU/L or Phe detection value≥2.0 mg/dL were regarded as suspicious positive children,and were recalled for reexamination and further confirmed.Results Over the past three years,203065 newborns had been screened,with a screening rate of 97.40%,and the screening rate had increased year by year.163 newborns were diagnosed with CH,the incidence rate was 1/1246.8 newborns were diagnosed with PKU,and the incidence rate was 1/25383.Conclusion Neonatal disease screening is an important link in three-level prevention of birth defect.By screening and timely treatment,it can avoid or alleviate the physical and mental retardation,improve the quality of the population and reduce the burden of the family and society.