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Parents’ experience with positive newborn screening results for cystic fibrosis

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Abstract

In Germany, screening for cystic fibrosis (CF) is part of the newborn screening since September 2016. The risk of psychological harm due to false-positive screening results is a longstanding concern. We investigated the parents’ perception of the CF screening process in Bavaria and the communication after positive screening results with a questionnaire. Until August 2018, 192 children went through a final diagnostic testing after a positive CF screening result, and 105 (54.7%) families completed the questionnaire. Of these, only 30 parents obtained information about the newborn screening by a physician, despite this being mandatory in Germany. Parents being informed by a CF specialist (28.6%) about the positive screening result were more satisfied with the given information (80.0 versus 50% informed by the maternity ward), and the delay until the final diagnostic testing was shorter. More than 3 days between the information about the screening result and the diagnostic testing was too long for 77.7% of the families.

Conclusion: Performing final diagnostic testing with only short delays and receiving satisfactory information is important. Therefore, parents should be informed directly by a CF center about positive screening results and only when sweat testing is possible within the next days.

What is Known:

• The risk of psychological harm due to false-positive screening results is a longstanding concern.

• Satisfactory information about the positive CF screening result seem to reduce the parental stress.

What is New:

• Parents being informed directly by a CF specialist were more satisfied with the given information and the delay until the final diagnostic testing was shorter.

• Our data support the concept that parents should better be informed directly by a CF specialist about positive screening results and only when sweat testing is possible within the next days to reduce parental stress.

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Abbreviations

CF:

Cystic fibrosis

CFSPID:

CF screening positive, inconclusive diagnosis

CFTR:

Cystic fibrosis transmembrane conductance regulator gene

IRT:

Immunoreactive trypsinogen

LGL:

Bavarian Health and Food safety authority

NBS:

Newborn screening

PAP:

Pancreatitis-associated protein

PPV:

Positive predictive value

References

  1. Beucher J, Leray E, Deneuville E, Roblin M, Pin I, Bremont F, Turck D, Giniès JL, Foucaud P, Rault G, Derelle J, David V, Journel H, Marchand S, Veillard D, Roussey M (2010) Psychological effects of false-positive results in cystic fibrosis newborn screening: a two-year follow-up. J Pediatr 156(5):771–776. https://doi.org/10.1016/j.jpeds.2009.12.003

    Article  PubMed  Google Scholar 

  2. Castellani C, Southern KW, Brownlee K, Dankert Roelse J, Duff A, Farrell M, Mehta A, Munck A, Pollitt R, Sermet-Gaudelus I, Wilcken B, Ballmann M, Corbetta C, de Monestrol I, Farrell P, Feilcke M, Férec C, Gartner S, Gaskin K, Hammermann J, Kashirskaya N, Loeber G, Macek M Jr, Mehta G, Reiman A, Rizzotti P, Sammon A, Sands D, Smyth A, Sommerburg O, Torresani T, Travert G, Vernooij A, Elborn S (2009) European best practice guidelines for cystic fibrosis neonatal screening. J Cyst Fibros 8(3):153–173. https://doi.org/10.1016/j.jcf.2009.01.004

    Article  PubMed  Google Scholar 

  3. Chudleigh J, Buckingham S, Dignan J, O'Driscoll S, Johnson K, Rees D, Wyatt H, Metcalfe A (2016) Parents’ experiences of receiving the initial positive newborn screening (NBS) result for cystic fibrosis and sickle cell disease. J Genet Couns 25(6):1215–1226. https://doi.org/10.1007/s10897-016-9959-4

    Article  PubMed  PubMed Central  Google Scholar 

  4. Clinical and Laboratory Standards Institute (CLSI) (2009) Sweat testing: sample collection and quantitative chloride analysis; Approved guideline-3rd edn. CLSI document C34-A3. Clinical and Laboratory Standards Institute, Wayne

  5. Comeau AM, Accurso FJ, White TB, Campbell PW 3rd, Hoffman G, Parad RB, Wilfond BS, Rosenfeld M, Sontag MK, Massie J, Farrell PM, O'Sullivan BP, Cystic Fibrosis Foundation (2007) Guidelines for implementation of cystic fibrosis newborn screening programs: cystic fibrosis foundation workshop report. Pediatrics 119(2):e495–e518. https://doi.org/10.1542/peds.2006-1993

    Article  PubMed  Google Scholar 

  6. Farrell PM (2008) The prevalence of cystic fibrosis in the European Union. J Cyst Fibros 7(5):450–453. https://doi.org/10.1016/j.jcf.2008.03.007

    Article  Google Scholar 

  7. Farrell PM, White TB, Howenstine MS, Munck A, Parad RB, Rosenfeld M, Sommerburg O, Accurso FJ, Davies JC, Rock MJ, Sanders DB, Wilschanski MBBS, Sermet-Gaudelus I, Blau H, Gartner S, McColley SA (2017) Diagnosis of cystic fibrosis in screened populations. J Pediatr 181S:S33–S44.e2. https://doi.org/10.1016/j.jpeds.2016.09.065

    Article  PubMed  Google Scholar 

  8. Grosse SD, Boyle CA, Botkin JR, Comeau AM, Kharrazi M, Rosenfeld M, Wilfond BS (2004) CDC. Newborn screening for cystic fibrosis: evaluation of benefits and risks and recommendations for state newborn screening programs. MMWR Recomm Rep 53(RR-13):1–36

    PubMed  Google Scholar 

  9. Gurian EA, Kinnamon DD, Henry JJ, Waisbren SE (2006) Expanded newborn screening for biochemical disorders: the effect of a false-positive result. Pediatrics 117(6):1915–1921. https://doi.org/10.1542/peds.2005-2294

    Article  PubMed  Google Scholar 

  10. Hayeems RZ, Miller FA, CJ2 B, Bombard Y, Kerr E, Tam K, Carroll JC, Potter BK, Chakraborty P, Davies C, Milburn J, Patton S, Bytautas JP, Taylor L, Price A, Gonska T, Keenan K, Ratjen F, Guttmann A (2016) Parent experience with false-positive newborn Screening results for cystic fibrosis. Pediatrics 138(3). https://doi.org/10.1542/peds.2016-1052

  11. Hayeems RZ, Miller FA, Vermeulen M, Potter BK, Chakraborty P, Davies C, Carroll JC, Ratjen F, Guttmann A (2017) False-positive newborn screening for cystic fibrosis and health care use. Pediatrics 140(5). https://doi.org/10.1542/peds.2017-0604

  12. Hayeems RZ, Miller FA, Barg CJ, Bombard Y, Carroll JC, Tam K, Kerr E, Chakraborty P, Potter BK, Patton S, Bytautas JP, Taylor L, Davies C, Milburn J, Price A, Gonska T, Keenan K, Ratjen F, Guttmann A (2017) Psychosocial response to uncertain newborn screening results for cystic fibrosis. J Pediatr 184:165–171.e1. https://doi.org/10.1016/j.jpeds.2017.01.049

    Article  PubMed  Google Scholar 

  13. Hewlett J, Waisbren SE (2006) A review of the psychosocial effects of false-positive results on parents and current communication practices in newborn screening. J Inherit Metab Dis 29(5):677–682. https://doi.org/10.1007/s10545-006-0381-1

    Article  CAS  PubMed  Google Scholar 

  14. Lundman E, Gaup HJ, Bakkeheim E, Olafsdottir EJ, Rootwelt T, Storrøsten OT, Pettersen RD (2016) Implementation of newborn screening for cystic fibrosis in Norway. Results from the first three years. J Cyst Fibros 15(3):318–324. https://doi.org/10.1016/j.jcf.2015.12.017

    Article  PubMed  Google Scholar 

  15. Munck A, Mayell SJ, Winters V, Shawcross A, Derichs N, Parad R, Barben J, Southern KW (2015) ECFS Neonatal Screening Working Group. Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A new designation and management recommendations for infants with an inconclusive diagnosis following newborn screening. J Cyst Fibros 14(6):706–713. https://doi.org/10.1016/j.jcf.2015.01.001.

    Article  CAS  PubMed  Google Scholar 

  16. Nicholls SG, Wilson BJ, Etchegary H, Brehaut JC, Potter BK, Hayeems R, Chakraborty P, Milburn J, Pullman D, Turner L, Carroll JC (2014) Benefits and burdens of newborn screening: public understanding and decision-making. Perinat Med 11(6):593–607. https://doi.org/10.2217/pme.14.46

    Article  CAS  Google Scholar 

  17. Richtlinie des Gemeinsamen Bundesausschusses über die Früherkennung von Krankheiten bei Kindern bis zur Vollendung des 6. Lebensjahres (Kinder-Richtlinie), Fassung von 18 Juni 2015, in Kraft getreten am 1. September 2016. Bundesanzeiger; AT, Berlin, 18.08.2016 B1

  18. Rueegg CS, Kuehni CE, Gallati S, Baumgartner M, Torresani T, Barben J (2013) Swiss CF screening task force. One-year evaluation of a neonatal screening program for cystic fibrosis in Switzerland. Dtsch Arztebl Int 110(20):356–363. https://doi.org/10.3238/arztebl.2013.0356.

    Article  PubMed  PubMed Central  Google Scholar 

  19. Rueegg CS, Barben J, Hafen GM, Moeller A, Jurca M, Fingerhut R, Kuehni CE (2016) Swiss cystic fibrosis screening group. Newborn screening for cystic fibrosis—the parent perspective. J Cyst Fibros 15(4):443–451

    Article  PubMed  Google Scholar 

  20. Salm N, Yetter E, Tluczek A (2012) Informing parents about positive newborn screen results: parents’ recommendations. J Child Health Care 16(4):367–381. https://doi.org/10.1177/1367493512443906

    Article  PubMed  PubMed Central  Google Scholar 

  21. Sommerburg O, Hammermann J, Lindner M, Stahl M, Muckenthaler M, Kohlmueller D, Happich M, Kulozik AE, Stopsack M, Gahr M, Hoffmann GF, Mall MA (2015) Five years of experience with biochemical cystic fibrosis newborn screening based on IRT/PAP in Germany. Pediatr Pulmonol 50:655–664. https://doi.org/10.1002/ppul.23190

    Article  PubMed  Google Scholar 

  22. Sommerburg O, Stahl M, Hammermann J, Okun JG, Kulozik A, Hoffmann G, Mall M (2017) Neugeborenenscreening auf Mukoviszidose in Deutschland: Vergleich des neuen Screening-Protokolls mit einem Alternativprotokoll. Klin Padiatr 229(2):59–66. https://doi.org/10.1055/s-0042-124187

    Article  PubMed  Google Scholar 

  23. Sontag MK, Lee R, Wright D, Freedenberg D, Sagel SD (2016) Improving the sensitivity and positive predictive value in a cystic fibrosis newborn screening program using a repeat immunoreactive trypsinogen and genetic analysis. J Pediatr 175:150–158.e1. https://doi.org/10.1016/j.jpeds.2016.03.046

    Article  CAS  PubMed  Google Scholar 

  24. Southern KW, Munck A, Pollitt R, Travert G, Zanolla L, Dankert-Roelse J, Castellani C, ECFS CF Neonatal Screening Working Group (2007) A survey of newborn screening for cystic fibrosis in Europe. J Cyst Fibros 6(1):57–65. https://doi.org/10.1016/j.jcf.2006.05.008.

    Article  CAS  PubMed  Google Scholar 

  25. Tluczek A, Orland KM, Cavanagh L (2011) Psychosocial consequences of false-positive newborn screens for cystic fibrosis. Qual Health Res 21(2):174–186. https://doi.org/10.1177/1049732310382919

    Article  PubMed  Google Scholar 

  26. Tragende Gründe zum Beschluss des Gemeinsamen Bundesausschusses über eine Änderung des Beschlusses zur Neufassung der Richtlinie über die Früherkennung von Krankheiten bei Kindern bis zur Vollendung des 6. Lebensjahres (Kinder-Richtlinie): Screening auf Mukoviszidose (Zystische Fibrose) Vom 20. August 2015. https://www.g-ba.de/informationen/beschluesse/2287. 20.01.2019

  27. Vernooij-van Langen AM, van der Pal SM, Reijntjens AJ, Loeber JG, Dompeling E, Dankert-Roelse JE (2014) Parental knowledge reduces long term anxiety induced by false-positive test results after newborn screening for cystic fibrosis. Mol Genet Metab Rep 1:334–344. https://doi.org/10.1016/j.ymgmr.2014.07.006.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

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Acknowledgements

The authors would like to thank the Swiss cystic fibrosis screening group for providing the questionnaire, the Bavarian screening team and the CF centers for their support, and the families for their participation.

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Authors and Affiliations

  1. Screening Center, Bavarian Health and Food Safety Authority (LGL), Veterinaerstrasse 2, 85764, Oberschleissheim, Germany

    Inken Brockow & Uta Nennstiel

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  1. Inken Brockow
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  2. Uta Nennstiel
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Both authors made substantial contributions to conception and design, acquisition, analysis and interpretation of data, drafted the article, and reviewed it critically for important intellectual content and have given final approval of the version.

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Correspondence to Inken Brockow.

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Communicated by Mario Bianchetti

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Brockow, I., Nennstiel, U. Parents’ experience with positive newborn screening results for cystic fibrosis. Eur J Pediatr 178, 803–809 (2019). https://doi.org/10.1007/s00431-019-03343-6

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  • DOI: https://doi.org/10.1007/s00431-019-03343-6

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