早产和低体重对威海地区17α-OHP水平的影响及其临界值的建立  

Effect of preterm birth and low birth weight on 17α-OHP level and its cut-off value in screening neonatal genetic metabolic diseases in Weihai

作　　者：王一淳 蓝信强 WANG Yichun;LAN Xinqiang(The Second Hospital of Weihai City Affiliated to Qingdao University,Weihai Maternal and Child Health Care Hospital,Weihai 264200,Shandong,China)

机构地区：[1]青岛大学附属威海市立第二医院威海市妇幼保健院,山东威海264200

出　　处：《检验医学》2024年第12期1214-1218,共5页Laboratory Medicine

摘　　要：目的探讨威海地区早产儿和低体重儿17α-羟孕酮(17α-OHP)水平的变化,并初步建立先天性肾上腺皮质增生症(CAH)筛查的临界值。方法收集2019年1月—2023年12月威海市妇幼保健院新生儿遗传代谢病筛查中心进行新生儿遗传代谢病筛查的干血片样本78147例,根据新生儿的出生孕周和出生体重分别分为早产儿组(4596名)、非早产儿组(73551名)和低体重儿组(2775名)、非低体重儿组(75372名)。检测所有样本的17α-OHP水平,比较各组初筛阳性率、筛查阳性率和阳性预测值。采用百分位数法建立17α-OHP筛查CAH的临界值,以第99.5百分位数(P99.5)值作为临界值的上限。结果78147例样本初筛阳性745例(0.953%),筛查阳性229例(0.293%),确诊3例CAH。早产儿组、低体重儿组初筛阳性率和筛查阳性率分别高于非早产儿组、非低体重儿组(P<0.001)。依据P99.5值,早产和/或低体重儿的临界值设为38.0 nmol·L^(-1)、其他新生儿临界值设为10.5 nmol·L^(-1)。与现用临界值比较,召回复查数降低50.20%,阳性预测值提高102.25%;未漏检确诊病例。结论早产和低体重对新生儿17α-OHP水平有显著影响。各地区应自行建立用于新生儿CAH筛查的17α-OHP临界值。Objective To investigate the changes of 17 alpha-hydroxyprogesterone(17α-OHP)levels in preterm birth and low birth weight newborns in Weihai,and to establish a cut-off value for screening congenital adrenal hyperplasia(CAH).Methods Totally,78147 dry blood samples of neonatal genetic metabolic diseases from the Screening Center of Weihai Maternal and Child Health Care Hospital from January 2019 to December 2023 were collected.According to gestational age and birth weight,the newborns were classified into preterm birth group(4596 cases),non-preterm birth group(73551 cases),low birth weight group(2775 cases)and non-low birth weight group(75372 cases),respectively.The level of 17α-OHP was determined,and the positive rate of initial screening,positive rate of screening and positive predictive value of each group were compared.The cutoff value of 17α-OHP screening for CAH was established using the percentile method,with the 99.5th percentile(P99.5)value as the upper limit of the cut-off value.Results Totally,745(0.953%)cases were positive at initial screening,229(0.293%)cases were positive at screening,and 3 cases of CAH were confirmed.The positive rates of initial screening and screening in preterm birth newborns and low birth weight newborns were higher than those in non-preterm birth newborns and non-low birth weight newborns,respectively(P<0.001).Based on the P99.5 value,the cut-off value was set at 38.0 nmol·L^(-1) for preterm birth and/or low birth weight newborns and 10.5 nmol·L^(-1) for other newborns.Compared with the current cut-off value,the number of recall reviews was decreased by 50.20%,and the positive predictive value was increased by 102.25%.No cases had been missed.Conclusions Preterm birth and low birth weight have effects on neonatal 17α-OHP levels.Each region should establish its own 17α-OHP cut-off value for neonatal CAH screening.

关 键 词：17α-羟孕酮 先天性肾上腺皮质增生症 新生儿遗传代谢病筛查 临界值 

分 类 号：R446.1[医药卫生—诊断学]