Gameleira Kallianna Paula Duarte, Thomas Juliana de Vasconcellos, de Araújo Vitor Guilherme Brito, Bolognani Cláudia Vicari, Fernandes Sérgio Eduardo Soares, Amorim Fábio Ferreira
Escola Superior de Ciências da Saúde (ESCS), Programa de Pós-Graduação em Ciências da Saúde, Brasília, DF, Brazil; Secretaria de Saúde do Distrito Federal, Serviço de Referência em Triagem Neonatal do Hospital de Apoio de Brasília, Brasília, DF, Brazil; Faculdade de Medicina, Escola Superior de Ciências da Saúde (ESCS), Brasília, DF, Brazil.
Secretaria de Saúde do Distrito Federal, Serviço de Referência em Triagem Neonatal do Hospital de Apoio de Brasília, Brasília, DF, Brazil.
J Pediatr (Rio J). 2025 Jul-Aug;101(4):561-568. doi: 10.1016/j.jped.2025.03.003. Epub 2025 Apr 21.
To evaluate the accuracy of neonatal 17-hydroxyprogesterone (N17OHP) levels adjusted for birth weight (BW) and time of the sample collection (TC) and propose optimized cutoff values to improve the effectiveness of newborn screening tests for congenital adrenal hyperplasia (CAHNBS) programs, utilizing a comprehensive dataset encompassing all newborn screening tests for 21-hydroxylase deficiency (21OHD) conducted over a decade in a Brazilian metropolitan region.
A cross-sectional study analyzed all CAHNBS tests from newborns aged 2 to 7 days in the Federal District, Brazil, from January 2012 to September 2022. The accuracy of cutoff values based on the 99.5th percentile (99.5P) for BW and TC was compared to the CAHNBS program of São Paulo and a threshold of ≥20 mg/dL. New cutoff values were proposed to enhance screening effectiveness.
Among the 340,291 newborns screened, CAH-21OHD was confirmed in 11 cases. The N17OHP cutoff in this sample reduced false positives for neonates ≤ 2500 g but increased them for those > 2500 g The proposed cutoff values based on 99.5P from the sample for neonates ≤ 2500 g, combined with a fixed cutoff ≥ 20 mg/dL for those > 2500 g, showed superior specificity (99.83 %, 95 % CI: 99.81-99.84 %), LR+ (579.16, 95 % CI: 524.23-627.87), PPV (1.84, 95 %CI: 1.70-1.99), and accuracy (99.83 %, 95 %CI: 99.81-99.84 %) than prior criteria.
The proposed 17OHP cutoff strategy effectively reduced false positives, improving specificity, LR+, PPV, and accuracy Thus, it optimized CAHNBS programs while minimizing unnecessary costs and parental distress.
利用巴西一个大都市地区十年来所有21-羟化酶缺乏症（21OHD）新生儿筛查测试的综合数据集，评估根据出生体重（BW）和样本采集时间（TC）调整后的新生儿17-羟孕酮（N17OHP）水平的准确性，并提出优化的临界值，以提高先天性肾上腺皮质增生症新生儿筛查测试（CAHNBS）项目的有效性。
一项横断面研究分析了2012年1月至2022年9月巴西联邦区2至7日龄新生儿的所有CAHNBS测试。将基于BW和TC的第99.5百分位数（99.5P）的临界值的准确性与圣保罗的CAHNBS项目以及≥20mg/dL的阈值进行比较。提出了新的临界值以提高筛查有效性。
在340291名接受筛查的新生儿中，确诊11例CAH-21OHD。该样本中的N17OHP临界值降低了体重≤2500g新生儿的假阳性率，但增加了体重>2500g新生儿的假阳性率。根据样本中体重≤2500g新生儿的99.5P提出的临界值，结合体重>2500g新生儿固定临界值≥20mg/dL，显示出比先前标准更高的特异性（99.83%，95%CI：99.81-99.84%）、阳性似然比（579.16，95%CI：524.23-627.87）、阳性预测值（1.84，95%CI：1.70-1.99）和准确性（99.83%，95%CI：99.81-99.84%）。
所提出的17OHP临界值策略有效降低了假阳性率，提高了特异性、阳性似然比、阳性预测值和准确性。因此，它优化了CAHNBS项目，同时将不必要的成本和家长的痛苦降至最低。
