石家庄市新生儿先天性肾上腺皮质增生症筛查截断值的研究  

Study on screening cutoff value of neonatal congenital adrenal hyperplasia in Shijiazhuang

作　　者：马翠霞 封露露 赵良宇 马倩倩 李扬 封纪珍 Ma Cuixia;Feng Lulu;Zhao Liangyu;Ma Qianqian;Li Yang;Feng Jizhen(Department of Heredity,Shi Jia Zhuang Maternal&Child Healthcare Hospital,Hebei,Shijiazhuang 050000,China;Department of Immunology,Hebei Medical University,Hebei,Shijiazhuang 050000,China;Medical Examination Center,Shijiazhuang Fourth Hospital,Hebei,Shijiazhuang 050000,China;Department of Prenatal Diagnosis,Shi Jia Zhuang Maternal&Child Healthcare Hospital,Hebei,Shijiazhuang 050000,China)

机构地区：[1]石家庄市妇幼保健院遗传科,河北石家庄050000 [2]河北医科大学免疫教研室,河北石家庄050000 [3]石家庄市第四医院体检中心,河北石家庄050000 [4]石家庄市妇幼保健院产前诊断科,河北石家庄050000

出　　处：《发育医学电子杂志》2022年第5期340-345,共6页Journal of Developmental Medicine (Electronic Version)

基　　金：河北省医学科学研究课题计划(20210689)。

摘　　要：目的探讨新生儿先天性肾上腺皮质增生症(congenital adrenal hyperplasia,CAH)筛查中不同胎龄17-羟孕酮(17-hydroxyprogesterone,17-OHP)的截断值。方法回顾性分析石家庄市2018年9月至2020年8月活产新生儿的17-OHP浓度,末梢血干血斑初筛及复查17-OHP浓度均≥30 nmol/L判断为筛查阳性,予以召回采静脉血进行确诊。采用Kruskal-Wallis H检验分析不同胎龄组间、出生体质量组间17-OHP浓度的差异,并使用多元线性回归分析新生儿胎龄、出生体质量对17-OHP浓度的影响。采用P_(99.9)百分位数法分别计算早产儿和足月儿的截断值。结果①217210例活产新生儿17-OHP浓度为8.44(5.97,11.53)nmol/L,初筛及复查阳性患儿151例,召回134例,确诊8例,阳性预测值为5.97%(8/134),CAH发病率为1/27151。②不同胎龄组、出生体质量组的新生儿17-OHP浓度有显著差异,早产儿17-OHP浓度高于足月儿、过期产儿[14.60(10.16,20.30)、8.21(5.84,11.10)与6.78(4.73,9.35)nmol/L,H=12808.675,P<0.001];低出生体质量儿17-OHP浓度高于正常出生体质量儿、巨大儿[14.33(9.64,20.49)、8.32(5.91,11.30)与7.75(5.49,10.43)nmol/L,H=26976.238,P<0.001]。③多元线性回归分析显示,新生儿胎龄、出生体质量均负向影响17-OHP浓度,差异有统计学意义(P<0.001),其中胎龄的影响因素较大(t=-150.200,P<0.001)。④在初筛阳性患儿和召回患儿中,与试剂盒推荐截断值比较,根据P_(99.9)百分位数法确定的截断值筛选出的早产儿构成比明显偏低(P值均<0.05)。如果早产儿采用P_(99.9)百分位数99.57 nmol/L为截断值,则仅需召回2例早产儿,召回患儿中早产儿由80.13%下降至4.65%。结论根据胎龄建立早产儿与足月儿不同的17-OHP截断值更为合理,并且可以有效降低早产儿的假阳性率。Objective To explore the cut-off value of 17-hydroxyprogesterone(17-OHP)at different gestational ages in neonatal congenital adrenal hyperplasia(CAH)screening.Method The concentration of 17-OHP in live births in Shijiazhuang from September 2018 to August 2020 was retrospectively analyzed.Those with the initial screening and reexamination of 17-OHP concentration≥30 nmol/L in neonatal peripheral blood dried blood spots were judged as screening positive and to be recalled to take venous blood for diagnosis.Kruskal Wallis H test was used to analyze the differences of 17-OHP concentration between different gestational age groups and birth weight groups,and multiple linear regression was used to analyze the effects of gestational age and birth weight on 17-OHP concentration.P_(99.9) percentile method was used to calculate the cut-off values of premature infants and term infants respectively.Result①The median 17-OHP of the 217210 live birth neonates was 8.44(5.97,11.53)nmol/L.Among 151 initial and reexamination of positive children,134 were recalled and 8 were confirmed.The positive predictive value was 5.97%(8/134),and the incidence rate of CAH was 1/27151.②There were significant differences in the concentration of 17-OHP among different gestational age groups and birth weight groups.The concentration of 17-OHP in premature infants was higher than that in full-term infants and expired infants[14.60(10.16,20.30),8.21(5.84,11.10),6.78(4.73,9.35)nmol/L,H=12808.675,P<0.001].The concentration of 17-OHP in low birth weight infants was higher than that in normal birth weight infants and macrosomia[14.33(9.64,20.49),8.32(5.91,11.30),7.75(5.49,10.43)nmol/L,H=26976.238,P<0.001].③Multiple linear regression analysis showed that the gestational age and birth weight of newborns negatively affect the concentration of 17-OHP,and there was statistical significance(P<0.001),among which the influencing factors of gestational age were larger(t=-150.200,P<0.001).④In the initial screening positive children and recalled children,co

关 键 词：肾上腺皮质疾病 肾上腺增生 17-羟孕酮 早产 截断值 

分 类 号：R722.1[医药卫生—儿科]