荷兰先天性肾上腺皮质增生症新生儿筛查的评估。

Evaluation of the Dutch neonatal screening for congenital adrenal hyperplasia.

机构信息

Department of Paediatric Endocrinology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

Department of Paediatrics, Amphia Hospital, Breda, The Netherlands.

出版信息

Arch Dis Child. 2019 Jul;104(7):653-657. doi: 10.1136/archdischild-2018-315972. Epub 2019 Feb 2.

DOI:10.1136/archdischild-2018-315972

PMID:30712004

Abstract

BACKGROUND

In 2002, a nationwide screening for congenital adrenal hyperplasia (CAH) was introduced in the Netherlands. The aim of our study is to evaluate the validity of the neonatal screening for CAH and to assess how many newborns with salt-wasting (SW) CAH have already been clinically diagnosed before the screening result was known.

METHODS

Retrospective, descriptive study. The following data of patients with positive screening results since implementation of the screening programme were collected (1 January 2002 up until 31 December 2013): gestational age, sex, diagnosis, clinical presentation and contribution of screening to the diagnosis.

RESULTS

In the evaluated period, 2 235 931 newborns were screened. 479 children had an abnormal screening result, 133 children were diagnosed with CAH (114 SW, 14 simple virilizing (SV)), five non-classic CAH. During this period, no patients with SW CAH were missed by neonatal screening (sensitivity was 100%). After exclusion of 17 cases with missing information on diagnosis, specificity was 99.98% and positive predictive value was 24.7%. Most false positives (30%) were attributable to prematurity. Of patients with SW CAH, 68% (71/104) patients were detected by neonatal screening and 33 (33/104) were clinically diagnosed. Of girls with SW CAH, 38% (14/37) were detected by neonatal screening and 62% (23/37) were clinically diagnosed.

CONCLUSION

The Dutch neonatal screening has an excellent sensitivity and high specificity. Both boys and girls can benefit from neonatal screening.

摘要

背景

2002 年，荷兰开展了全国性的先天性肾上腺皮质增生症（CAH）筛查。本研究旨在评估 CAH 新生儿筛查的有效性，并评估在筛查结果知晓之前，有多少患有失盐型（SW）CAH 的新生儿已被临床诊断。

方法

回顾性描述性研究。收集自开展筛查项目以来（2002 年 1 月 1 日至 2013 年 12 月 31 日）筛查结果阳性的患者的以下数据：胎龄、性别、诊断、临床表现以及筛查对诊断的贡献。

结果

在评估期间，对 2235931 名新生儿进行了筛查。479 名儿童筛查结果异常，133 名儿童被诊断为 CAH（114 例 SW，14 例单纯男性化型），5 例非经典 CAH。在此期间，新生儿筛查未遗漏任何一例 SW CAH 患者（敏感性为 100%）。排除 17 例诊断信息缺失的病例后，特异性为 99.98%，阳性预测值为 24.7%。大多数假阳性（30%）归因于早产。在 SW CAH 患者中，68%（71/104）的患者通过新生儿筛查发现，33 例（33/104）患者为临床诊断。在 SW CAH 的女孩中，38%（14/37）通过新生儿筛查发现，62%（23/37）为临床诊断。