四川片区GSP分析仪新生儿CAH筛查的17α-羟孕酮切值初步探讨  

Preliminary exploration of 17α-hydroxyprogesterone cut-off value for neonatal congenital adrenal hyperplasia screening using a genetic screening processor in Sichuan region of China

作　　者：杨丽涓 周婧瑶 欧明才 罗泽民 张钰 胡琦 陈雪莲 杨云霞 Yang Lijuan;Zhou Jingyao;Ou Mingcai;Luo Zeming;Zhang Yu;Hu Qi;Chen Xuelian;Yang Yunxia(Department of Pediatric Medicine and Neonatal Disease Screening,Sichuan Provincial Women’s and Children’s Hospital/The Affiliated Women's and Children's Hospital of Chengdu Medical College)

机构地区：[1]四川省妇女儿童医院/成都医学院附属妇女儿童医院新生儿疾病筛查科,成都610045

出　　处：《重庆医科大学学报》2024年第9期1201-1204,共4页Journal of Chongqing Medical University

摘　　要：目的:初步探讨四川省新筛中心全自动荧光免疫分析仪(genetic screening processor,GSP)进行先天性肾上腺皮质增生症(ngenital adrenalhyperplasia,CAH)筛查的新生儿干血斑17α-羟孕酮(17α-hydroxyprogesterone,17α-OHP)水平的切值。方法:采用时间分辨荧光法检测45423例新生儿足跟滤纸干血斑17α-OHP浓度,回顾性分析新生儿孕周、出生体重与17α-OHP水平的相关性。筛查结果用百分位数法进行分析,以P99.5确定切值。结果:孕周与17α-OHP值的r系数为-0.30,呈负相关;出生体重与17α-OHP值的r系数为-0.17,其绝对值小于0.3,可认为无相关性。早产儿17α-OHP水平M(Q_(1),Q_(3))、第99.5百分位数均高于足月儿,差异有统计学意义(Z=-52.52,P=0.000);低体重儿17α-OHP水平M(Q_(1),Q_(3))、第99.5百分位数均高于正常体重儿,差异有统计学意义(Z=-36.45,P=0.000)。结论:建议四川片区新生儿17α-OHP的切值根据孕周进行调整,将新生儿17α-OHP筛查切值修改为早产儿28.5 nmol/L、足月儿13.0 nmol/L。Objective:To investigate the cut-off value of 17α-hydroxyprogesterone(17α-OHP)level in neonatal dried blood spots for congenital adrenal hyperplasia(CAH)screening by using a genetic screening processor(GSP)at Sichuan Neonatal Disease Screening Center.Methods:The time-resolved fluorescence method was used to measure the concentration of 17α-OHP in the dried blood spots on neonatal heel blood filter paper of 45423 neonates,and a retrospective analysis was performed for the correlation of gestational age and birth weight with 17α-OHP level in neonates.The percentile method was used to analyze the screening results,and the cut-off value was determined at P99.5.Results:The r coefficient between gestational age and 17α-OHP value is-0.30,showing a negative correlation.The r coefficient between birth weight and 17α-OHP value is-0.17,and its absolute value is less than 0.3,indicating no correlation.The M(Q_(1),Q_(3))and 99.5th percentile of 17α-OHP level in preterm infants were significantly higher than those in full-term infants(Z=-52.52,P=0.000),and the M(Q_(1),Q_(3))and 99.5th percentile of 17α-OHP level in low-weight infants were significantly higher than those in infants with normal weight(Z=-36.45,P=0.000).Conclusion:It is recommended to adjust the cut-off value of 17α-OHP based on gestational age for neonates in Sichuan region and modify the cut-off value of 17α-OHP screening as 28.5 nmol/L for preterm infants and 13.0 nmol/L for full-term infants.

关 键 词：先天性肾上腺皮质增生症 孕周 17-羟孕酮 切值 

分 类 号：R174[医药卫生—妇幼卫生保健] R722[医药卫生—公共卫生与预防医学] R446