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
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摘要
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) cutoff 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. Percentiles 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 of 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.
Objective To investigate and establish appropriate 17-hydroxyprogesterone(17-OHP) cutoff 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. Percentiles 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 of 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.
引文
[1]顾学范.新生儿疾病筛查.上海:上海科学技术文献出版社,2003:185-186.
[2]毛玉维,郭辉,闵娟,等.早产新生儿体重对CAH筛查中17-羟孕酮结果的影响分析.国际医药卫生导报,2008,14(7):11-14.
[3]谢莉,郑敏,蔡稔,等.柳州地区早产儿先天性肾上腺皮质增生症筛查实验cut-off值初探.检验医学与临床,2012,9(16):1969-1970.
[4]陈宇宏,王三南,王旭莉,等.不同胎龄新生儿17-羟孕酮的结果分析.吉林医学,2012,33(34):7472-7473.
[5]Hayashi G,Faure C,Brondi MF,et al.Weight-adjusted neonatal17OH-progesterone cutoff levels improve the efficiency of newborn screening for congenital adrenal hyperplasia.Arq Bras Endocrinol Metabol,2011,55(8):632-637.
[6]Vander Kamp HJ,Oudshoorn CG,Elvers BH,et al.Cutoff levels of17-alpha-hydroxyprogesterone in neonatal screening for congenital adrenal hyperplasia should be based on gestational age rather than on birth weight.J Clin Endocrinol Metab,2005,90(7):3904-3907.
[7]Olgemller B,Roscher AA,Liebl B,et al.Screening for congenital adrenal hyperplasia:adjustment of 17-hydroxyprogesterone cut-off values to both age and birth weight markedly improves the predictive value.J Clin Endocfinol Metab,2003,88(12):5790-5794.
[8]万志丹,黄湘,张翠梅,等.新生儿先天性肾上腺皮质增生症筛查中17羟孕酮cut-off的建立.国际医药卫生导报,2012,18(4):448-452.
[2]毛玉维,郭辉,闵娟,等.早产新生儿体重对CAH筛查中17-羟孕酮结果的影响分析.国际医药卫生导报,2008,14(7):11-14.
[3]谢莉,郑敏,蔡稔,等.柳州地区早产儿先天性肾上腺皮质增生症筛查实验cut-off值初探.检验医学与临床,2012,9(16):1969-1970.
[4]陈宇宏,王三南,王旭莉,等.不同胎龄新生儿17-羟孕酮的结果分析.吉林医学,2012,33(34):7472-7473.
[5]Hayashi G,Faure C,Brondi MF,et al.Weight-adjusted neonatal17OH-progesterone cutoff levels improve the efficiency of newborn screening for congenital adrenal hyperplasia.Arq Bras Endocrinol Metabol,2011,55(8):632-637.
[6]Vander Kamp HJ,Oudshoorn CG,Elvers BH,et al.Cutoff levels of17-alpha-hydroxyprogesterone in neonatal screening for congenital adrenal hyperplasia should be based on gestational age rather than on birth weight.J Clin Endocrinol Metab,2005,90(7):3904-3907.
[7]Olgemller B,Roscher AA,Liebl B,et al.Screening for congenital adrenal hyperplasia:adjustment of 17-hydroxyprogesterone cut-off values to both age and birth weight markedly improves the predictive value.J Clin Endocfinol Metab,2003,88(12):5790-5794.
[8]万志丹,黄湘,张翠梅,等.新生儿先天性肾上腺皮质增生症筛查中17羟孕酮cut-off的建立.国际医药卫生导报,2012,18(4):448-452.