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

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45 423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P_99.5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（Q₁，Q₃）、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（Q₁，Q₃）、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。

Abstract

Objective To investigate the cut-off value of 17 α-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 P_99.5. 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（Q₁，Q₃） 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（Q₁，Q₃） 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

Key words

congenital adrenal hyperplasia / gestational age / 17 α-hydroxyprogesterone / cut-off value