European best practice guidelines for cystic fibrosis neonatal screening

被引：169

作者：

Castellani, Carlo ^{[1
]}

Southern, Kevin W. ^{[2
]}

Brownlee, Keith ^{[3
]}

Roelse, Jeannette Dankert ^{[4
]}

Duff, Alistair ^{[3
]}

Farrell, Michael ^{[5
]}

Mehta, Anil ^{[6
,10
]}

Munck, Anne ^{[7
]}

Pollitt, Rodney ^{[8
]}

Sermet-Gaudelus, Isabelle

Wilcken, Bridget ^{[9
]}

Ballmann, Manfred ^{[11
]}

Corbetta, Carlo ^{[12
]}

de Monestrol, Isabelle ^{[13
]}

Farrell, Philip ^{[14
]}

Feilcke, Maria ^{[15
]}

Ferec, Claude ^{[16
]}

Gartner, Silvia ^{[17
]}

Gaskin, Kevin ^{[10
]}

Hammermann, Jutta ^{[18
]}

Kashirskaya, Nataliya ^{[19
]}

Loeber, Gerard ^{[20
]}

Macek, Milan, Jr. ^{[21
]}

Mehta, Gita

Reiman, Andreas

Rizzotti, Paolo ^{[22
]}

Sammon, Alec

Sands, Dorota ^{[23
]}

Smyth, Alan ^{[24
]}

Sommerburg, Olaf ^{[25
]}

Torresani, Toni ^{[26
]}

Travert, Georges ^{[27
]}

Vernooij, Annette

Elborn, Stuart ^{[28
]}

机构：

[1] Verona Cyst Fibrosis Ctr, I-37126 Verona, Italy

[2] Univ Liverpool, Liverpool L69 3BX, Merseyside, England

[3] St James Univ Hosp, Leeds Reg Cyst Fibrosis Unit, Leeds, W Yorkshire, England

[4] Atrium Med Centrum Heerlen, Heerlen, Netherlands

[5] Med Coll Wisconsin, Milwaukee, WI USA

[6] Univ Dundee, Div Maternal & Child Hlth Sci, Dundee DD1 4HN, Scotland

[7] AP HP, Robert Debre Cyst Fibrosis Ctr, Paris, France

[8] Sheffield Childrens Hosp, Sheffield, S Yorkshire, England

[9] Hop Necker Enfants Malad, INSERM, U465, Ctr Ressources & Competence Mucoviscidose, Paris, France

[10] Childrens Hosp Westmead, Sydney, NSW, Australia

[11] Hannover Med Sch, Dept Paediat, Hannover, Germany

[12] Osped Bambini V Buzzi, Milan AO ICP, Milan, Italy

[13] Karolinska Univ, Huddinge Hosp, Stockholm CF Ctr, Stockholm, Sweden

[14] Univ Wisconsin, Madison, WI 53706 USA

[15] Munich Cyst Fibrosis Ctr, Munich, Germany

[16] Univ Bretagne Occidentale, Ctr Hosp Univ Brest, F-29269 Brest, France

[17] Hosp Vall de Hebron, Unidad Fibrosis Quist, Barcelona, Spain

[18] Dresden Cyst Fibrosis Ctr, Dresden, Germany

[19] Moscow Cyst Fibrosis Ctr, Moscow, Russia

[20] Natl Inst Publ Hlth, Int Soc Neonatal Screening, Bilthoven, Netherlands

[21] Charles Univ Prague 2, Sch Med, Dept Biol & Med Genet, Prague, Czech Republic

[22] Verona Hosp, Cent Lab, Verona, Italy

[23] Cyst Fibrosis Ctr, Inst Mother & Child, Warsaw, Poland

[24] Univ Nottingham, Div Child Hlth, Nottingham NG7 2RD, England

[25] Heidelberg Cyst Fibrosis Ctr, Heidelberg, Germany

[26] Univ Childrens Hosp Zurich, Swiss Neonatal Screening Lab, Zurich, Switzerland

[27] Caen Univ Hosp, Neonatal Screening Ctr Normandy, Caen, France

[28] Belfast Cyst Fibrosis Ctr, Belfast, Antrim, North Ireland

来源：

JOURNAL OF CYSTIC FIBROSIS | 2009年 / 8卷 / 03期

关键词：

Cystic fibrosis; Neonatal screening; Diagnosis; Immunoreactive trypsinogen; Sweat test; DRIED-BLOOD SPOT; IMMUNOREACTIVE TRYPSINOGEN LEVELS; AGE-RELATED ALTERATIONS; DIRECT GENE ANALYSIS; DELAYED DIAGNOSIS; YOUNG-CHILDREN; CATIONIC TRYPSINOGEN; PRENATAL-CARE; SWEAT-TEST; NEWBORN;

D O I：

10.1016/j.jcf.2009.01.004

中图分类号：

R56 [呼吸系及胸部疾病];

学科分类号：

摘要：

There is wide agreement on the benefits of NBS for CF in terms of lowered disease severity, decreased burden of care, and reduced costs. Risks are mainly associated with disclosure of carrier status and diagnostic uncertainty. When starting a NBS programme for CF it is important to take precautions in order to minimise avoidable risks and maximise benefits. In Europe more than 25 screening programmes have been developed.. with quite marked variation in protocol design. However, given the wide geographic, ethnic, and economic variations, complete harmonisation of protocols is not appropriate. There is little evidence to Support the use of IRT alone as a second tier, without involving DNA mutation analysis. However, if IRT/DNA testing does not lead to the desired specificity/sensitivity ratio in a population, a screening programme based on IRT/IRT may be used. Sweat chloride concentration remains the gold standard for discriminating between NBS false and true positives, but age-related changes in sweat chloride should be taken into account. CF phenotypes associated with less severe disease often have intermediate or normal sweat chloride concentrations. Programmes should include arrangements for counselling and management of infants where the diagnosis is not clear-cut. All newborns identified by NBS should be managed according to internationally accepted guidelines. CF centre care and the availability of necessary medication are essential prerequisites before the introduction of NBS Programmes. Clear explanation to families of the process of screening and of implications of normal and abnormal results is central to the success of CF NBS programmes. Effective communication is especially important when parents are told that their child is affected or is a carrier. When establishing a NBS programme for CF, attention should be given to ensuring timely and appropriate processing of results, to minimise potential stress for families. (C) 2009 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

引用

页码：153 / 173

页数：21