苏州市新生儿重症监护室新生儿29项遗传代谢病筛查的影响因素分析  

Analysis on the influencing factors of screening of 29 kinds of inherited metabolic diseases among neonates in neonatal intensive care unit in Suzhou

作　　者：王棋 陈亚平[1] 马骏[1] 王挺[1] 殷林亮[1] 王本敬[1] WANG Qi;CHEN Ya-ping;MA Jun;WANG Ting;YIN Lin-liang;WANG Ben-jing(The Affiliated Suzhou Hospital of Nanjing Medical University,Suzhou,Jiangsu 215002,China)

机构地区：[1]南京医科大学附属苏州医院,江苏苏州215002

出　　处：《中国妇幼保健》2023年第1期132-136,共5页Maternal and Child Health Care of China

基　　金：江苏省妇幼健康科研项目(F201715,F202044)。

摘　　要：目的分析苏州市新生儿重症监护室(NICU)新生儿促甲状腺激素(TSH)、17α-羟孕酮(17α-OHP)及串联质谱筛查结果,评估NICU新生儿遗传代谢病筛查的影响因素。方法选取2017年1月—2021年12月在南京医科大学附属苏州医院苏州市新生儿疾病筛查中心完成29项遗传代谢病筛查的NICU新生儿为NICU组,相同批次的其他新生儿作为对照组。所有新生儿均进行29项遗传代谢病筛查,检测指标包括TSH、17α-OHP、11种氨基酸、30种酰基肉碱、游离肉碱及琥珀酰丙酮。结果共确诊先天性甲状腺功能减退症(CH)94例,先天性肾上腺皮质增生症(CAH)6例,串联质谱筛查疾病60例。NICU新生儿中CH、CAH及串联质谱筛查疾病的发生率分别为1/144、1/239及1/180,均显著高于对照组(χ^(2)=33.33,P<0.05;χ^(2)=197.43,P<0.05;χ^(2)=32.96,P<0.05)。NICU新生儿TSH、17α-OHP及串联质谱筛查疾病的初筛阳性率分别为3.34%、14.46%及14.74%,均显著高于对照组(1.44%、0.74%及2.76%),差异均有统计学意义(χ^(2)=18.10,P<0.05;χ^(2)=1671.00,P<0.05;χ^(2)=375.40,P<0.05)。NICU组TSH和17α-OHP初筛阳性中真阳性率分别为20.83%和2.88%,均显著高于对照组(χ^(2)=10.81,P<0.05;χ^(2)=7.60,P<0.05)。不同性别新生儿TSH和17α-OHP初筛阳性率比较差异均有统计学意义(均P<0.05)。不同胎龄和出生体质量的新生儿TSH、17α-OHP及串联质谱初筛阳性率比较差异均有统计学意义(均P<0.05)。结论NICU新生儿TSH、17α-OHP及串联质谱筛查疾病的初筛阳性率均显著偏高,性别、胎龄及出生体质量是导致初筛阳性率偏高的独立因素。Objective To analyze the screening results of thyroid stimulating hormone(TSH),17α-hydroxyprogesterone(17α-OHP),and tandem mass spectrometry in neonatal intensive care unit(NICU)neonates in Suzhou,evaluate the influencing factors of screening of inherited metabolic diseases in NICU neonates.Methods From January 2017 to December 2021,the NICU neonates receiving screening of 29 kinds of inherited metabolic diseases in Suzhou Neonatal Disease Screening Center of the Affiliated Suzhou Hospital of Nanjing Medical University were selected as NICU group,the other neonates in the same batches were selected as control group.All the neonates were screened for 29 kinds of inherited metabolic diseases,the detection indicators included TSH,17α-OHP,11 amino acids,30 acylcarnitines,free carnitine,and succinylacetone.Results A total of 94 neonates were diagnosed as congenital hypothyroidism(CH),6 neonates were diagnosed as congenital adrenal hyperplasia(CAH),and 60 neonates were diagnosed as tandem mass spectrometry.Among NICU neonates,the incidence rates of CH,CAH,and tandem mass spectrometry were 1/144,1/239,and 1/180,respectively,which were statistically significantly higher than those in control group(χ^(2)=33.33,P<0.05;χ^(2)=197.43,P<0.05;χ^(2)=32.96,P<0.05).Among NICU neonates,the positive rate of preliminary screening of TSH,17α-OHP,and tandem mass spectrometry were 3.34%,14.46%,and 14.74%,respectively,which were statistically significantly higher than those in control group(1.44%,0.74%,and 2.76%)(χ^(2)=18.10,P<0.05;χ^(2)=1671.00,P<0.05;χ^(2)=375.40,P<0.05).Among the positive NICU neonates of preliminary screening,the true positive rates of TSH and 17α-OHP were 20.83%and 2.88%,respectively,which were statistically significantly higher than those in control group(χ^(2)=10.81,P<0.05;χ^(2)=7.60,P<0.05).There were statistically significant differences in preliminary screening rates of TSH and 17α-OHP between male neonates and female neonates(P<0.05).There were statistically significant differences in preliminary

关 键 词：新生儿重症监护室新生儿 遗传代谢病筛查 影响因素 

分 类 号：R715.5[医药卫生—妇产科学]