阜阳市99835例新生儿遗传代谢病筛查结果回顾性分析

Retrospective analysis of genetic metabolic disease screening results of 99835 newborns in Fuyang city

目的:分析阜阳市新生儿遗传代谢病(IMD)筛查结果。方法:回顾性收集2018年参与新生儿苯丙酮尿症(PKU)、先天性甲状腺功能减低症(CH)、先天性肾上腺皮质增生症(CAH)疾病筛查的99835例调查资料,均于出生后72h、充分哺乳后采集新生儿足底血,检测促甲状腺激素(TSH)、17α-羟孕酮(17α-OHP)、苯丙氨酸(Phe)浓度,对可疑病例复查,高度可疑采用气相色谱或基因检测确诊。结果:共筛查TSH 99835例(100.00%),17-α-OHP 81791例(81.93%),PHE 99805例(99.97%)。初检阳性率TSH 1.68%,17-α-OHP 0.33%,PHE 0.54%;初筛阳性率TSH 0.50%,17-α-OHP 0.17%,PHE 0.13%;复查阳性率TSH 0.38%,17-α-OHP 0.16%,PHE 0.10%;确诊率TSH 1:1664,17-α-OHP 1:24959,PHE 1:8317。该年不同月份TSH、17-α-OHP、PHE初筛结果有一定不同,17-α-OHP阳性率在母亲生产孕周<37周、体重<2500g、采血日龄≥8d中较高。结论:本次调查阜阳市新生儿PKU、CH检出率略高,CAH检出率较低,PKU、CH、CAH在一定程度上可能受检测时间的影响。提示临床筛查应注意控制时间差异,保证正确采血以提高初筛效率。

Objective:The analyze the screening results of 99835 newborns with genetic metabolic disease(GMD)from Fuyang city in 2018.Methods:The data of 99,835 newborns involved in screening for phenylketonuria(PKU),congenital hypothyroidism(CH)and congenital adrenal hyperplasia(CAH)in 2008 were collected retrospectively.The foot blood of these newborns was collected 72 hours after birth and full lactation.The concentrations of thyroid stimulating hormone(TSH),17α-hydroxyprogesterone(17α-OHP),and phenylalanine(Phe)were measured.The suspicious cases were reexamined and gas phase color Spectrum or gene test was used in highly suspicious cases for definite diagnosis.Results:The positive rate of initial examination of TSH was 1.68%,that of 17-α-OHP was 0.33%,and that of Phe was 0.54%.The positive rate of primary screening of TSH was 0.50%,that of 17-α-OHP was 0.17%,and that of Phe was 0.13%.The positive rate of reexamination of TSH was 0.38%,that of 17-α-OHP was 0.16%,and that of Phe was 0.10%.The definite diagnosis rate of TSH was 1:1664,that of 17-α-OHP was 1:24959,and that of Phe was 1:8317.The results of primary screening of TSH,17-α-OHP and Phe had difference among different months in 2018.The positive rate of 17-α-OHP of the newborns were higher when their mother with delivery gestational weeks<37 weeks,their birth weight<2500g,or their age≥8d when blood collection.Conclusion:In Fuyang city,the detection rate of PKU and CH of newborns is slightly higher,but the detection rate of CAH is lower.To some extent,the detection rate of PKU,CH and CAH are affected by the detection time,which suggested that clinical screening should be paid attention to in the control of time differences to ensure the blood collection correctly for improving the efficiency of the initial screening.