Yoon Young Ahn, Woo Suhyeon, Kim Min-Sun, Kim Bohyun, Choi Young-Jin
Department of Laboratory Medicine, Soonchunhyang University Cheonan Hospital, Soonchunhyang University College of Medicine, Cheonan, Korea.
Exp Clin Endocrinol Diabetes. 2023 Apr;131(4):216-221. doi: 10.1055/a-2022-8399. Epub 2023 Feb 28.
Newborn screening for congenital adrenal hyperplasia (CAH) has benefits with a high adoption rate worldwide. It also has problems of high false positives, which can cause stress to the patient's family with economic losses and unnecessary visits of newborns to hospitals. Therefore, we investigated the influence of birth weight (BW), gestational age (GA), and GA with sampling time on 17-hydroxyprogesterone (17-OHP) concentration and attempted to establish the 17-OHP cutoff values in preterm, low birth weight (LBW), and sick newborns.
Newborns (n=1,071) born between October 2020 and January 2022 were screened for CAH. Samples from neonates were collected on filter paper with the heel prick method. 17-OHP concentration was measured by time-resolved immunofluorescence with an AutoDELFIA Neonatal 17-hydroxyprogesteron kit and grouped in relation to BW, GA, and GA with sampling time.
The median age of newborns at neonatal sample collection was 6 days. 17-OHP concentration showed a statistically significant negative correlation with BW (=-0.488, <0.001) and GA (=-0.560, <0.001). Full-term and preterm subgroups had a similar decreasing tendency of 17-OHP concentration with increasing sampling time. Application of newly establishing cutoff criteria significantly reduced recall rates to 1.16%, 0.9%, and 1.75% according to each criterion of BW, GA, and GA with sampling time, respectively.
This study presents new 17-OHP cutoff values for preterm, LBW, and sick newborns. These data in our laboratory can be used as a reference by other laboratories for establishing new cutoff criteria to help lower the high recall rate and reduce unnecessary follow-up tests.
先天性肾上腺皮质增生症（CAH）的新生儿筛查在全球范围内具有较高的接受率，带来了诸多益处。但它也存在假阳性率高的问题，这可能给患者家庭带来压力，造成经济损失，还会导致新生儿不必要的就医。因此，我们研究了出生体重（BW）、胎龄（GA）以及胎龄与采样时间对17-羟孕酮（17-OHP）浓度的影响，并试图确定早产、低出生体重（LBW）和患病新生儿的17-OHP临界值。
对2020年10月至2022年1月期间出生的1071例新生儿进行CAH筛查。采用足跟采血法在滤纸上采集新生儿样本。使用AutoDELFIA新生儿17-羟孕酮试剂盒通过时间分辨免疫荧光法测定17-OHP浓度，并根据BW、GA以及胎龄与采样时间进行分组。
新生儿样本采集时的中位年龄为6天。17-OHP浓度与BW（=-0.488，<0.001）和GA（=-0.560，<0.001）呈统计学显著负相关。足月儿和早产儿亚组中，随着采样时间增加，17-OHP浓度均有类似的下降趋势。根据BW、GA以及胎龄与采样时间的各自标准应用新建立的临界值标准后，召回率分别显著降低至1.16%、0.9%和1.75%。
本研究提出了早产、低出生体重和患病新生儿的新17-OHP临界值。我们实验室的这些数据可供其他实验室参考，以建立新的临界值标准，帮助降低高召回率并减少不必要的后续检测。
