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Purpose <p>Early identification of classic 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia (21OH-CAH) through newborn screening (NBS) is vital to prevent morbidity from salt-wasting crises. The aim of the study is to assess the efficacy of 21OH-CAH NBS from 2006 to 2019 in the five Regions of Italy where 21OH-CAH NBS is performed.</p> Methods <p>Methods included dried blood spot (DBS) tests for 17OH-progesterone (17OHP) within the first 48–72&#xa0;h, with variable protocols. Dried blood spots have been screened with a time-resolved fluoroimmunoassay for 17OHP determination (DELFIA) as first tier test in all the Italian Regions. Liquid chromatography-tandem mass spectrometry (LC-MS/MS) was implemented in the Veneto region starting October 2017 as second-tier test.</p> Results <p>Among 2,933,074 screened newborns, 161 (86 males, 75 females) had classic 21OH-CAH, with a cumulative incidence of 1 in 17,699. Salt-wasting CAH was the most prevalent form (71.9%). Mean age at blood sampling for true positives was 9 ± 18 days, with 28% suspected before NBS results. In Regions with a second-tier test, the recall rate (RR) was 0.17, and positive predictive value (PPV) was 4.3. No patients had adrenal crisis and 23% of cases were symptomatic before the NBS results were reported.</p> Conclusions <p>The study confirms the efficacy of NBS in early detection of classic 21OH-CAH, emphasizing the need for timely reporting and second-tier testing to improve outcomes.</p>

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Newborn screening for congenital adrenal hyperplasia due to 21 hydroxylase deficiency: the Italian experience 2006–2019

  • 期刊论文

  • 发表日期：

    2025年9月15日

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  • Federico Baronio,
  • Enrica Abrigo,
  • Sara Azzolini,
  • Paolo Cavarzere,
  • Cristina Cereda,
  • Luisa De Sanctis,
  • Silvia Laura Carla Meroni,
  • Jessica Munarin,
  • Francesca Righetti,
  • Gianni Russo,
  • Francesca Teofoli,
  • Antonio Balsamo

摘要

Purpose

Early identification of classic 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia (21OH-CAH) through newborn screening (NBS) is vital to prevent morbidity from salt-wasting crises. The aim of the study is to assess the efficacy of 21OH-CAH NBS from 2006 to 2019 in the five Regions of Italy where 21OH-CAH NBS is performed.

Methods

Methods included dried blood spot (DBS) tests for 17OH-progesterone (17OHP) within the first 48–72 h, with variable protocols. Dried blood spots have been screened with a time-resolved fluoroimmunoassay for 17OHP determination (DELFIA) as first tier test in all the Italian Regions. Liquid chromatography-tandem mass spectrometry (LC-MS/MS) was implemented in the Veneto region starting October 2017 as second-tier test.

Results

Among 2,933,074 screened newborns, 161 (86 males, 75 females) had classic 21OH-CAH, with a cumulative incidence of 1 in 17,699. Salt-wasting CAH was the most prevalent form (71.9%). Mean age at blood sampling for true positives was 9 ± 18 days, with 28% suspected before NBS results. In Regions with a second-tier test, the recall rate (RR) was 0.17, and positive predictive value (PPV) was 4.3. No patients had adrenal crisis and 23% of cases were symptomatic before the NBS results were reported.

Conclusions

The study confirms the efficacy of NBS in early detection of classic 21OH-CAH, emphasizing the need for timely reporting and second-tier testing to improve outcomes.