Department of Pediatrics, Hans Christian Andersen Children's Hospital, Odense University Hospital, University of Southern Denmark, Odense, Denmark.
Department for Congenital Disorders, Danish Center for Neonatal Screening, Statens Serum Institut, Copenhagen, Denmark.
Horm Res Paediatr. 2022;95(1):35-42. doi: 10.1159/000522230. Epub 2022 Feb 3.
Early detection of salt-wasting congenital adrenal hyperplasia (SW-CAH) is important to reduce CAH-related morbidity. However, neonatal screening has shown to have a low positive predictive value (PPV), especially among preterm newborns. Here, the Danish CAH screening is evaluated by comparing incidence and morbidity of SW-CAH 10 years before and after introduction of screening. Furthermore, sensitivity, specificity, and PPV are determined.
All newborns in Denmark born during 1999-2018 and diagnosed with SW-CAH were identified in the Danish National Patient Registry and/or at the Department of Clinical Genetics, Rigshospitalet. Newborns with a positive neonatal CAH screening were identified at Statens Serum Institut. Correct diagnosis was evaluated by medical record review.
A total of 65 newborns with SW-CAH were identified. The incidence of SW-CAH was 5:100,000 both before and after introduction of screening. Performance of sensitivity and specificity of the screening were 97% and 100%, respectively, and the PPV was 55% for the given period. Stratified according to gestational age, the PPV was 33% and 61% for pre -and fullterm newborns, respectively. Though not significant, the proportion of newborns presenting with SW-crisis decreased after introduction of screening from 29% versus 10% (p = 0.07).
Neonatal screening for SW-CAH has not led to an increase in the incidence of newborns diagnosed with SW-CAH. The screening algorithm has effectively identified newborns with SW-CAH. After 2009, there was a tendency toward a lower proportion of newborns with SW-crisis at diagnosis. Finally, the study emphasizes the benefits of using second-tier screening as well as repeated screening of premature newborns.
早期发现盐耗竭型先天性肾上腺皮质增生症（SW-CAH）对于降低 CAH 相关发病率很重要。然而，新生儿筛查的阳性预测值（PPV）较低，尤其是在早产儿中。在此，通过比较引入筛查前后 10 年 SW-CAH 的发病率和发病率，对丹麦 CAH 筛查进行了评估。此外，还确定了敏感性、特异性和 PPV。
在丹麦出生于 1999-2018 年并被诊断为 SW-CAH 的所有新生儿均在丹麦国家患者登记处和/或里格医院临床遗传学系中确定。在 Statens Serum Institut 确定新生儿筛查呈阳性的新生儿。通过病历回顾评估正确诊断。
共发现 65 例 SW-CAH 新生儿。引入筛查前后，SW-CAH 的发病率均为 5:100,000。该筛查的敏感性和特异性分别为 97%和 100%，在此期间的 PPV 为 55%。根据胎龄分层，早产儿和足月儿的 PPV 分别为 33%和 61%。尽管无统计学意义，但引入筛查后 SW 危象的新生儿比例从 29%降至 10%（p = 0.07）。
新生儿 SW-CAH 筛查并未导致诊断为 SW-CAH 的新生儿发病率增加。筛查算法有效识别了 SW-CAH 新生儿。2009 年后，诊断时 SW 危象新生儿的比例呈下降趋势。最后，该研究强调了使用二线筛查以及对早产儿进行重复筛查的益处。
