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中国循证儿科杂志

中国循证儿科杂志 ›› 2016, Vol. 11 ›› Issue (1): 21-25.

• 论著 • 上一篇    下一篇

四分位数法和判别分析法建立的新生儿先天性肾上腺皮质功能增生症筛查界值比较分析

罗超 范歆 李旺 耿国兴 林彩娟 玉晋武 陈少科   

  1. 广西壮族自治区妇幼保健院遗传代谢中心实验室 南宁，530000
  • 收稿日期:2015-10-22 修回日期:2016-02-23 出版日期:2016-02-05 发布日期:2016-02-05
  • 通讯作者: 范歆

Comparison and analysis of two cut-off establishing methods for newborn congenital adrenal hyperplasia screening.

LUO Chao, FAN Xin, LI Wang, GENG Guo-xing, LIN Cai-juan, YU Jin-wu, CHEN Shao-ke   

  1. Guangxi Maternal and Child Health Care Hospital Laboratory of Genetics and Metabolism, Nanning 530000, China
  • Received:2015-10-22 Revised:2016-02-23 Online:2016-02-05 Published:2016-02-05
  • Contact: FAN Xin

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摘要：

目的 分别应用四分位数法和判别分析法建立先天性肾上腺皮质功能增生症(CAH)筛查的界值，以期提高CAH的筛查准确率。方法 对广西壮族自治区新生儿疾病筛查中心2012年6月至2015年6月的新生儿筛查资料行回顾性分析。根据不同孕周（＜28周， ~32周，~36周和≥37周）采用四分位数法分别建立相应的17-羟孕酮（17-OHP）界值（P99）。根据孕周、体重和17-OHP水平，应用非标准化Fisher判别法计算判别值。对17-OHP≥30 nmol·L-1的可疑阳性病例召回后行相关检查，临床高度怀疑CAH病例行基因检测（金标准）。以四分位数法和判别分析法分别与金标准比较，计算2种方法诊断CAH的敏感度和特异度。结果 215 900例新生儿数据进入分析。17-OHP水平≥30 nmol·L-1 1 110例，初筛阳性率0.51%；召回994/1 110例（89.6%）。①孕周<28、~32、~36和≥37周新生儿17-OHP界值分别为236.0、113.7、50.0和29.0 nmol·L-1，呈随胎龄增大而降低的趋势；重新判定初筛阳性结果，阳性497例，阴性613例；另有50例初筛阴性病例判断为阳性。②判别分析法公式为Z= (-0.207·孕周)+ (-0.000242·出生体重)+ 0.54·17-OHP+ 8.25，计算出判别系数为24.24，重新判定初筛阳性结果，阳性439例，阴性671例，无初筛阴性病例判为阳性。③判别分析法和四分位数法联合判定初筛阳性结果，阳性291例，阴性819例，无初筛阴性病例判为阳性。④临床上排除可疑病例965例，29例行CAH基因检测，确诊CAH 12例。四分位数法、判别分析法和两者联合的敏感度均为100%，特异度分别为5.9%、11.8%和17.7%。结论 四分位数法和判别分析法均可提高CAH筛查准确率， 2种方法联合具有更好初筛价值。

Abstract:

Objective Quartile method and discriminant analysis method were used to establish cut-off value of congenital adrenal hyperplasia(CAH) screening, expecting to increase screening accuracy.Methods Newborn CAH screening data were retrospective investigated from Jun. 2012 to Jun. 2015 in Guangxi Province. 17-OHP≥30 nmol·L-1 was considered as suspected positive case. Quartile method was used according to different gestation age(＜28， -32，-36 and ≥37 weeks) to establish 17-OHP cut-off (P99) respectively. Unstandardized Fisher analysis was used to establish cut-off according to gestation age, birth weight and 17-OHP level. Recalling the suspected positive cases, after thorough clinical test, highly suspected case was performed for gene test(gold standard). Two methods were compared with gold standard respectively to calculate sensitivity and specificity of CAH diagnosis.Results In all 215 900 newborns, 1 110 were suspected positive(positive rate 0.51%), 994 were recalled(recall rate 89.6%). ①17-OHP cut-off (P99) of ＜28， -32，-36 and ≥37 weeks was 236.0、113.7、50.0 and 29.0 nmol·L-1 respectively, which was decreased as gestation age growng. These new cut-offs were used to recalculate the screening result, 547 cases were positive (including 50 cases with 17-OHP<30 nmol·L-1), while 613 former positive cases turned to negative(55.2%).②The discriminant equation was Z= (-0.207·gestation age)+ (-0.000242·birth weight)+ 0.54·17-OHP level+ 8.25, cut-off was 24.24. Using this cut-off, 439 were positive, while 671 turned to negative. ③Using these two methods together could figure out 291 positive(0.13%) cases and 819 turned to negative. ④965 recalled positive cases could be excluded by clinical test, the rest 29 cases were performed for gene test, while 12 of them were diagnosed as CAH. Quartile method, discriminant analysis method and combination of the two methods compared with gold standard, sensitivity was 100%, specificity was 5.9%, 11.8% and 17.7% respectively.Conclusion Both quartile method and discriminant analysis method can increase screening accuracy. Using these two methods together is even better in screening.