European survey of newborn bloodspot screening for CF: opportunity to address challenges and improve performance

被引：21

作者：

Munck, Anne ^{[1
,2
]}

Berger, Daria ^{[3
,4
]}

Southern, Kevin W. ^{[5
]}

Carducci, Carla ^{[6
]}

Groot, Karin M. de Winter-de ^{[7
]}

Gartner, Silvia ^{[8
]}

Kashirskaya, Nataliya ^{[9
]}

Linnane, Barry ^{[10
,11
]}

Proesmans, Marijke ^{[12
]}

Sands, Dorota ^{[13
]}

Sommerburg, Olaf ^{[14
,15
,16
]}

Castellani, Carlo ^{[17
]}

Barben, Juerg ^{[18
,19
]}

机构：

[1] Univ Paris 05, Hosp Necker Enfants Malad, AP HP, CF Ctr, Paris, France

[2] French Soc Newborn Screenings, Paris, France

[3] Univ Bern, Inst Social & Prevent Med, Bern, Switzerland

[4] Univ Bern, Grad Sch Hlth Sci, Bern, Switzerland

[5] Univ Liverpool, Dept Womens & Childrens Hlth, Liverpool, England

[6] Sapienza Univ, Dept Expt Med, Rome, Italy

[7] Univ Utrecht, Univ Med Ctr Utrecht, Wilhelmina Childrens Hosp, Dept Paediat Pulmonol & Allergol, Utrecht, Netherlands

[8] Hosp Univ Vall dHebron, Pediat Pulmonol & Cyst Fibrosis Unit, Barcelona, Spain

[9] Moscow Reg Res & Clin Inst, Res Ctr Med Genet, Lab Genet Epidemiol, Moscow, Russia

[10] Univ Limerick, Grad Entry Med Sch, Limerick, Ireland

[11] Univ Limerick, Ctr Intervent Infect Inflammat & Immun 4i, Limerick, Ireland

[12] Univ Hosp Leuven, Dept Pediat, Div Woman & Child, Leuven, Belgium

[13] Inst Mother & Child Hlth, Cyst Fibrosis Dept, Warsaw, Poland

[14] Univ Hosp Heidelberg, Paediat Pulmonol Allergol, Heidelberg, Germany

[15] Univ Hosp Heidelberg, CF Ctr, Dept Paediat 3, Heidelberg, Germany

[16] Univ Hosp Heidelberg, Translat Lung Res Ctr, German Lung Res Ctr, Heidelberg, Germany

[17] IRCCS Ist Giannina Gaslini, Cyst Fibrosis Ctr, Genoa, Italy

[18] Childrens Hosp Eastern Switzerland, Paediat Pulmonol, St Gallen, Switzerland

[19] Childrens Hosp Eastern Switzerland, CF Ctr, St Gallen, Switzerland

来源：

JOURNAL OF CYSTIC FIBROSIS | 2023年 / 22卷 / 03期

关键词：

Cystic fibrosis; Newborn bloodspot screening; IRT; PAP; CFTR gene analysis; CFSPID carriers; CYSTIC-FIBROSIS;

D O I：

10.1016/j.jcf.2022.09.012

中图分类号：

R56 [呼吸系及胸部疾病];

学科分类号：

摘要：

Background: The aim of this study was to record the current status of newborn bloodspot screening (NBS) for CF across Europe and assess performance.Methods: Survey of representatives of NBS for CF programmes across Europe. Performance was assessed through a framework developed in a previous exercise.Results: In 2022, we identified 22 national and 34 regional programmes in Europe. Barriers to estab-lishing NBS included cost and political inertia. Performance was assessed from 2019 data reported by 21 national and 21 regional programmes. All programmes employed different protocols, with IRT-DNA the most common strategy. Six national and 11 regional programmes did not use DNA analysis.Conclusions: Integrating DNA analysis into the NBS protocol improves PPV, but at the expense of in-creased carrier and CFSPID recognition. Some programmes employ strategies to mitigate these outcomes. Programmes should constantly strive to improve performance but large datasets are needed to assess outcomes reliably.& COPY; 2022 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

引用

页码：484 / 495

页数：12

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