Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A new designation and management recommendations for infants with an inconclusive diagnosis following newborn screening

Munck, À.; Mayell, Sarah; Winters, V.; Shawcross, Anna; Derichs, Nico; Parad, Richard B.; Barben, Jürg; Southern, Kevin W

doi:10.1016/j.jcf.2015.01.001

Cited by 158 publications

(154 citation statements)

References 12 publications

Supporting

Mentioning

144

Contrasting

Unclassified

Order By: Relevance

“…While use of extended genotyping will improve specificity by picking up some cases with two disease-causing mutations, it will also lead to the diagnosis of more carriers and designation of more children as CFSPID with the inevitable dilemmas over further management 13. The European Cystic Fibrosis Society has published consensus recommendations for CFSPID,3 but, nevertheless, there remain many unanswered questions, not least length of follow-up of an essentially healthy child. There are a variety of screening protocols and algorithms across the world, and a European survey published in 2016 found 16 different approaches in the 16 countries with national programmes 14.…”

Section: Discussionmentioning

confidence: 99%

Cystic fibrosis newborn screening: outcome of infants with normal sweat tests

et al. 2017

View full text Add to dashboard Cite

Newborn babies positively screened for cystic fibrosis (CF) (high serum immunoreactive trypsin (IRT) with DNA analysis) are referred for a diagnostic sweat test, which may be normal (sweat chloride <30 mmol/L). Unless two gene mutations are identified during Newborn screening (NBS), the babies are discharged from follow-up. We wished to check that none had subsequently developed symptoms suggestive of CF. We retrospectively reviewed patient notes and contacted general practitioners of all babies with a negative sweat test, conducted in one of the four paediatric specialist CF centres in London, over the first 6 years of screening in South East England.Of 511 babies referred, 95 (19%) had a normal sweat test. Five (5%) had CF diagnosed genetically, two of them on extended genome sequencing after clinical suspicion. Eleven (12%) were designated as CF screen positive inconclusive diagnosis (CFSPID); one of the five CF children was originally designated as CFSPID. Seventy-nine (83%) were assumed to be false-positive cases and discharged; follow-up data were available for 51/79 (65%); 32/51 (63%) had no health issues, 19/51 (37%) had other significant non-CF pathology.These results are reassuring in that within the limitations of those lost to follow-up, CF symptoms have not emerged in the discharged children. The high non-CF morbidity in these children may relate to known causes of high IRT at birth. Clinicians need to be aware that a child can have CF despite a normal sweat test following NBS, and if symptoms suggest the diagnosis, further testing, including extended genome sequencing, is required.

show abstract

Section: Discussionmentioning

confidence: 99%

Cystic fibrosis newborn screening: outcome of infants with normal sweat tests

et al. 2017

View full text Add to dashboard Cite

show abstract

“…The terms Cystic Fibrosis Transmembrane Conductance Regulator Metabolic Syndrome (CRMS) in the US and CF Screened Positive, Inconclusive Diagnosis (CFSPID) in Europe have been introduced to characterize the symptoms of these individuals (Table 1). 20,21 While the frequency of the diagnosis of CRMS/CFSPID depends on the NBS algorithm employed (Box 2) 22–25 both the CFF and European CF Society recommend that these individuals be followed at specialized CF centers. This population of patients is different than the patients who present clinically with some degree of CFTR dysfunction, such as congenital bilateral absence of the vas deferens (CBAVD), recurrent pancreatitis, or bronchiectasis; these patients are considered to have CFTR-related disorders (CFTR-RD) (Table 1).…”

Section: Incidencementioning

confidence: 99%

Background and Epidemiology

Sanders

Fink

2016

Pediatric Clinics of North America

View full text Add to dashboard Cite

SYNOPSIS Cystic fibrosis (CF) is the most common autosomal recessive disease in Caucasians. Significant advances in therapies and outcomes have occurred for people with CF over the past 30 years. Many of these improvements have come about through the concerted efforts of the US CF Foundation and international CF societies, networks of CF care centers, and the worldwide community of care providers, researchers, and patients and families. Despite these gains, there are still hurdles to overcome to continue to improve the quality of life, reduce CF complications, prolong survival, and ultimately cure CF. This article reviews the epidemiology of CF, including trends in incidence and prevalence, clinical characteristics, common complications, and survival.

show abstract

“…für Neugeborene einsetzbar. Für Kinder mit einer CFSPID wurden in einer Delphi-Konferenz Richtlinien erarbeitet, welche für die weitere klinische Betreuung herangezogen werden sollen [65]. Je nach Veränderung im klinischen Verlauf oder in der Elektrophysiologie kann eine Umgruppierung in eine klassische Mukoviszidose erfolgen, was bei ca.…”

Section: Genetische Diagnostik Des Mukoviszidosescreeningsunclassified

Einführung des deutschlandweiten Neugeborenenscreenings für Mukoviszidose

Heinemann

Hentschel

Becker

et al. 2016

LaboratoriumsMedizin

View full text Add to dashboard Cite

ZusammenfassungDie Mukoviszidose oder Cystische Fibrose (CF) ist eine autosomal rezessiv vererbte Stoffwechselerkrankung und mit einer regional schwankenden Inzidenz von ca. 1:3.300–1:5.800 eine der häufigsten angeborenen Stoffwechselerkrankungen in Deutschland. Durch eine mutationsbedingte verminderte oder fehlende Funktion von Chloridkanälen kommt es hier zu einer Veränderung der Sekretzusammensetzung aller exokrinen Drüsen. Die mittlere Lebenserwartung von Mukoviszidose-Patienten konnte durch verbesserte Behandlungsstrategien auf mittlerweile über 40 Jahre erheblich gesteigert werden. Es hat sich dabei gezeigt, dass eine frühzeitige Diagnosestellung einen positiven Einfluss auf Krankheitsverlauf, Lebensqualität und Lebenserwartung der betroffenen Patienten hat. Diese Erkenntnis führte in den letzten 10 Jahren europaweit zur Aufnahme der Mukoviszidose in regionale und nationale Neugeborenenscreening-Programme. Mit dem Beschluss des Gemeinsamen Bundesausschusses zur Einführung des Mukoviszidosescreenings im August 2015 wurde Mukoviszidose nun auch in Deutschland als weitere Zielkrankheit in die Kinderrichtlinien aufgenommen und ist nach Veröffentlichung im Bundesanzeiger somit bundeseinheitlich als Bestandteil des deutschen Neugeborenenscreening-Programms vorgeschrieben. Das Procedere beinhaltet ein Stufenscreening mit der Kombination von Immunreaktivem Trypsin (IRT) und Pankreatitis-assoziiertem Protein (PAP) mit zusätzlicher Mutationsanalytik. Dank einer deutschlandweit früheren Diagnosestellung wird ein verbessertes Langzeitoutcome von Mukoviszidose-Patienten erwartet.

show abstract

Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A new designation and management recommendations for infants with an inconclusive diagnosis following newborn screening

Abstract: We have generated a new designation and statements to guide the management of infants with CFSPID through a robust international Delphi process. These statements will be a valuable tool for CF teams and will improve the consistency of management of these infants.

Cited by 158 publications

References 12 publications

Cystic fibrosis newborn screening: outcome of infants with normal sweat tests

Cystic fibrosis newborn screening: outcome of infants with normal sweat tests

Background and Epidemiology

Einführung des deutschlandweiten Neugeborenenscreenings für Mukoviszidose

Contact Info

Product

Resources

About