不同出生孕周新生儿先天性肾上腺皮质增生症筛查中17-羟孕酮切值初探

Brief investigation of 17-hydroxyprogesterone cut-off values in congenital adrenal hyperplasia screening for newborn with different birth gestational weeks

目的探讨建立适合本中心的关于足月儿(孕周≥37周)及早产儿(孕周<37周)先天性肾上腺皮质增生症(CAH)筛查中17-羟孕酮(17-OHP)的切值。方法采用荧光酶免疫分析方法检测新生儿滤纸干血斑中17-OHP的浓度,去除确诊病例的17-OHP浓度数据,采用百分位数法确定切值。结果 4700例早产儿中,17-OHP浓度分布水平为(15.96±10.34)ng/ml;65496例足月儿中,17-OHP浓度分布水平为(10.21±4.96)ng/ml。早产儿17-OHP浓度的95%百分位数和99%百分位数分别为35.65、51.92 ng/ml,足月儿17-OHP浓度的95%百分位数和99%百分位数分别为19.23、26.87 ng/ml,两组新生儿17-OHP浓度差异有统计学意义(P<0.01)。结论结合本中心的实际情况,采用统一17-OHP切值进行新生儿CAH筛查不合理,建议早产儿17-OHP切值采用50.0 ng/ml,足月儿17-OHP切值采用25.0 ng/ml,以减少假阳性率和需召回率。

Objective To investigate and establish appropriate 17-hydroxyprogesterone （17-OHP） cut- off value in congenital adrenal hyperplasia （CAH） screening for term infant （gestational weeks≥ 37 weeks） and premature infant （gestational weeks〈37 weeks）. Methods Fluorescence enzyme immunoassay was applied to detect 17-OHP concentration in newborn dried blood spots on filter paper. 17-OHP concentrations in diagnosed cases were eliminated for cut-off value determination by percentile method. Results 17-OHP concentration distribution level was （15.96 ±10.34） ng/ml in 4700 premature infants, and （10.21 ±4.96） ng/ml in 65496 term infants. Percens of 95% and 99% 17-OHP concentration in premature infants were 35.65 and 51.92 ng/ml, and those in term infants were 19.23 and 26.87 ng/ml. The difference oftile 17-OHP concentration between the two groups had statistical significance （P〈0.01）. Conclusion Implement of unified 17-OHP concentration cut-off value for newborn CAH screening is irrational. Suggestions are made for implement of 50.0 ng/ml as 17-OHP concentration cut-off value in premature infant, and 25.0 ng/ml in term infant, in order to reduce false positive rate and needed recall rate.