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DOI: 10.1055/a-1700-5105
The First 4 Years – Outcome of Children Identified by Newborn Screening for CF in Germany
Klinische Verläufe von Kindern mit Mukoviszidose nach Diagnosestellung im Neugeborenenscreening – die ersten vier Jahre in Deutschland![](https://www.thieme-connect.de/media/klinpaed/202205/lookinside/thumbnails/17005105_10-1055-a-1700-5105-1.jpg)
Abstract
Background Newborn screening (NBS) has been shown to improve cystic fibrosis (CF) disease course and has been widely implemented worldwide. This monocentric study compared children diagnosed by NBS vs. a cohort preceding the implementation of NBS in Germany in 2016 to evaluate ascribed benefits of NBS.
Methods We compared all children with confirmed CF diagnosis (n=19, “NBS group”) out of all children presenting with positive NBS at our center after implementation of NBS (n=100) to children diagnosed with CF at our center within 4 years before NBS implementation (n=29, “pre-NBS group”) for outcomes of anthropometry, gastrointestinal and pulmonary disease manifestations and respiratory microbiology.
Results Children diagnosed by NBS had a lower incidence of initial difficulty to thrive (15 vs. 41%) and showed higher mean z-scores for Body-Mass-Index (BMI), weight and length at diagnosis and during study period. Children in the pre-NBS group displayed higher proportions of oxygen-dependent pulmonary exacerbations (10 vs. 0%). They show a significantly lower amount of normal bacterial flora (p=0.005) along with a significantly higher number of throat swab cultures positive for Pseudomonas aeruginosa (p=0.0154) in the first year of life. Yet, pulmonary imaging did not reveal less pulmonary morbidity in the NBS group.
Conclusions Our results confirm that NBS for CF leads to earlier diagnosis and improves nutritional outcomes in early childhood. Although trajectories of structural lung damage at early age were unaffected by NBS, NBS positive CF patients at preschool age displayed less pulmonary exacerbations and pathological bacteria in throat swabs.
Zusammenfassung
Hintergrund Das Neugeborenen-Screening (NBS) verbessert nachweislich den Krankheitsverlauf der Mukoviszidose (CF). Diese monozentrische Studie vergleicht Kinder, die durch NBS diagnostiziert wurden, mit einer altersentsprechenden Kohorte vor Einführung des NBS in Deutschland im Jahr 2016, um die Vorteile des NBS zu evaluieren.
Methoden Kinder, die mit positivem NBS (n=100) in unserem Zentrum vorstellig wurden, und bei denen sich die Diagnose Mukoviszidose bestätigte (n=19, "NBS-Gruppe") werden mit Kindern vergleichen, bei denen innerhalb von 4 Jahren vor Einführung des NBS in unserem Zentrum Mukoviszidose diagnostiziert wurde.
Ergebnisse Mittels NBS diagnostizierte Kinder, hatten eine geringere Inzidenz von anfänglichen Ernährungsproblemen (15% gegenüber 41%), einen höheren mittleren z-Score für Body-Mass-Index (BMI), Gewicht und Länge bei Diagnosestellung und während des Studienzeitraums. Kinder in der Prä-NBS-Gruppe wiesen einen höheren Anteil an pulmonalen Exazerbationen (10% gegenüber 0%) auf. Sie wiesen signifikant weniger normale Bakterienflora (p=0,005) sowie eine höhere Rate an Pseudomonas aeruginosa (p=0,0154) im Rachenabstrich auf. Die pulmonale Bildgebung ergab jedoch keine geringere pulmonale Morbidität in der NBS-Gruppe.
Schlussfolgerungen Unsere Ergebnisse bestätigen, dass NBS bei Mukoviszidose zu einer früheren Diagnose führt und die Ernährungssituation im frühen Kindesalter verbessert. Obwohl der Verlauf der strukturellen Lungenschäden im frühen Alter durch NBS nicht beeinflusst wurde, wiesen NBS-positive Mukoviszidose-Patienten im Vorschulalter weniger pulmonale Exazerbationen und pathologische Bakterienbesiedlungen im Rachenabstrichen auf.
Publication History
Article published online:
28 January 2022
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