Abstract: 【Abstract】 Objective To explore the cut-off value of 17-hydroxyprogesterone (17-OHP) at different gestational ages in neonatal congenital adrenal hyperplasia (CAH) screening. Method The concentrationof 17-OHP in live births in Shijiazhuang from September 2018 to August 2020 was retrospectively analyzed.Those with the initial screening and reexamination of 17-OHP concentration ≥30 nmol/L in neonatalperipheral blood dried blood spots were judged as screening positive and to be recalled to take venous bloodfor diagnosis. Kruskal Wallis H test was used to analyze the differences of 17-OHP concentration betweendifferent gestational age groups and birth weight groups, and multiple linear regression was used to analyzethe effects of gestational age and birth weight on 17-OHP concentration. P99.9 percentile method was used tocalculate the cut-off values of premature infants and term infants respectively. Result ①The median 17-OHP of the 217 210 live birth neonates was 8.44 (5.97, 11.53) nmol/L. Among 151 initial and reexaminationof positive children, 134 were recalled and 8 were confirmed. The positive predictive value was 5.97% (8/134),and the incidence rate of CAH was 1/27 151. ②There were significant differences in the concentration of17-OHP among different gestational age groups and birth weight groups. The concentration of 17-OHP inpremature infants was higher than that in full-term infants and expired infants [14.60 (10.16, 20.30), 8.21(5.84, 11.10), 6.78 (4.73, 9.35) nmol/L, H=12 808.675, P<0.001]. The concentration of 17-OHP in low birthweight infants was higher than that in normal birth weight infants and macrosomia [14.33 (9.64, 20.49), 8.32(5.91, 11.30), 7.75 (5.49, 10.43) nmol/L, H=26 976.238, P<0.001]. ③Multiple linear regression analysisshowed that the gestational age and birth weight of newborns negatively affect the concentration of 17-OHP, and there was statistical significance (P<0.001), among which the influencing factors of gestationalage were larger (t=-150.200, P<0.001). ④In the initial screening positive children and recalled children,compared with the cut-off value recommended by the kit, the constituent ratio of preterm infants screenedout by the cut-off value determined by the P99.9 percentile method was significantly lower (all P<0.05). Ifthe P99.9 percentile of 99.57 nmol/L was used as the cut-off value for preterm infants, only two preterminfants were recalled, and the proportion of recalled children who were premature infants decreasedfrom 80.13% to 4.65%. Conclusion It is more reasonable to establish the cut-off value of 17-OHPaccording to the gestational age of premature infants and term infants, and it can effectively reduce the false positive rate of premature infants.
马翠霞 封露露 赵良宇 马倩倩 李扬 封纪珍. 石家庄市新生儿先天性肾上腺皮质增生症筛查截断值的研究[J]. 发育医学电子杂志, 2022, 10(5): 340-345.
Ma Cuixia, Feng Lulu, Zhao Liangyu, et al. Study on screening cutoff value of neonatal congenital adrenal hyperplasia in Shijiazhuang. Journal of Developmental Medicine(Electronic Version), 2022, 10(5): 340-345.
2022, Vol. 10 
